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Encyclopedia of Molecular Mechanisms of Disease

FLORIAN LANG (Ed.)

Encyclopedia of MolecularMechanisms of Disease

With 646 Figures* and 213 Tables

*For color figures please see our Electronic Reference on www.springerlink.com

Editor:Prof. Dr. med. Florian LangInstitute of PhysiologyUniversity of TuebingenTuebingen, Germanyflorian.lang@uni-tuebingen.de

A C.I.P. Catalog record for this book is available from the Library of Congress

ISBN: 978-3-540-67136-7This publication is available also as:Electronic publication under ISBN 978-3-540-29676-8 andPrint and electronic bundle under ISBN 978-3-540-33445-3Library of Congress Control Number 2008930847

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Preface

Pathophysiology describes mechanisms of disease and is thus at the interface between basic research and clinicalmedicine. The aim of this comprehensive encyclopedia is to supply the reader with concise information onmolecular pathophysiology, a research area of breathtaking gain of knowledge. We trust that the book shall be avaluable companion for both basic scientists exploring the clinical hallmarks of the diseases they are interested in,and clinicians searching for insight into the molecular pathophysiology of their patients. The entries are structuredto allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by keyreferences.

The editor is indebted to the section editors for their superb support in selecting the appropriate entries and choosingthe leading experts in the respective areas of research. The editor further wishes to express his appreciation to themany brilliant authors who delivered outstanding state-of-the-art descriptions of pathophysiological mechanisms.

In addition, the book would not have come to reality without the dedicated, professional and creative support ofmy secretaries Tanya Loch and Jasmin Bühringer and by several staff members of the Springer Publishinghouse including Dr. Michaela Bilic, Jana Simniok, Hiltrud Wilbertz, Dr. Rolf Lange, and Dr. Thomas Mager.

FLORIAN LANG, March 2008

Editor-in-Chief

Prof. Dr. med. Florian LangInstitute of PhysiologyUniversity of TuebingenTuebingen, Germanyflorian.lang@uni-tuebingen.de

Field Editors

CHRISTIAN BAUER

Université Claude Bernard,Lyon, Francechristian.bauer@chu-lyon.fr(Section: Blood Disorders)

ALESSANDRA BAUMER

Institute of Medical Genetics,University of Zurich,Zurich, Switzerlandbaumer@medgen.unizh.ch(Section: Chromosomal Disorder)

MICHAEL BECKER

The University of Chicago,Chicago, IL, USAmbecker@medicine.bsd.uchicago.edu(Section: Purine Metabolism)

HANS-KONRAD BIESALSKI

Department of Biological Chemistry and Nutrition,University Hohenheim,Stuttgart, Germanybiesal@uni-hohenheim.de(Section: Vitamins & Trace Elements)

STEFAN BORNSTEIN

Medical Clinic III,University Hospital Dresden,Dresden, GermanyStefan.Bornstein@Uniklinikum-Dresden.de(Section: Endocrinology)

KENNETH L. BRIGHAM

Department of MedicineEmory University School of Medicine,Atlanta, GA, USAkbrigha@emory.edu(Section: Respiratory Disease)

WOLFGANG DIETMAIER

Institute of Pathology,University of Regensburg,Regensburg, Germanywolfgang.dietmaier@klinik.uni-regensburg.de(Section: Tumor Biology)

TILMAN B. DRÜKE

Hopital Necker,Paris, Francedrueke@necker.fr(Section: Bone and Mineral Disease)

GERD HASENFUßDepartment of Cardiology andPneumology,University of Goettingen,Goettingen, Germanyhasenfus@med.uni-goettingen.de(Section: Cardiovascular System)

DIETER HÄUSSINGER

Clinic for Gastroenterology, Hepatologyand Infectiology,Heinrich-Heine-University,Duesseldorf, Germanyhaeussin@uni-duesseldorf.de(Sections: Gastroenterology, Hepatology)

FRIEDHELM HILDEBRANDT

University of Michigan Health System,Ann Arbor, MI, USAfhilde@umich.edu(Section: Renal and Combined Disease)

KEITH A. HRUSKA

Barnes-Jewish Hospital,Washington University School ofMedicine,St. Louis, MO, USAkhruska@imgate.wustl.edu(Section: Bone and Mineral Disease)

GARY HUNNINGHAKE

School of Medicine,University of Iowa,Iowa City, IA, USAgary-hunninghake@uiowa.edu(Section: Respiratory Disease)

MARTIN KONRAD

Department of Pediatrics,University of Muenster,Muenster, Germanykonradma@uni-muenster.de(Section: Bone and Mineral Disease)

KARL KUNZELMANN

Department of Physiology,University of Regensburg,Regensburg, Germanyuqkkunze@mailbox.uq.edu.au(Section: Respiratory Disease)

FLORIAN LANG

Institute of Physiology,University of Tuebingen,Tuebingen, Germanyflorian.lang@uni-tuebingen.de(Conceptual Editor for Several Sections)

KARL S. LANG

Ontario Cancer Institute,University Toronto,Toronto, ON, CanadaKarl.lang@usz.ch(Section: Immunology)

UNDINE E. LANG

Department of Psychiatry and Psychotherapy,Charité University Medicine Berlin,Berlin, Germanyundine.lang@charite.de(Section: Psychiatry)

FRANK LEHMANN-HORN

Applied Physiology,Ulm University,Ulm, Germanyfrank.lehmann-horn@uni-ulm.de(Section: Neurology)

HOLGER LERCHE

Applied Physiology,Ulm University,Ulm, Germanyholger.lerche@uni-ulm.de(Section: Neurology)

DEREK LEROITH

Division of Endocrinology, Diabetes and Bone Disease,Mount Sinai School of Medicine,New York, NY, USAderek.leroith@mssm.edu(Section: Endocrinology)

THOMAS LUGER

Department of Dermatology,University Hospital of Muenster,Muenster, Germanyderma@uni-muenster.de(Section: Skin)

REUBEN MATALON

Department of Pediatrics,University of Texas Medical Branch (UTMB),Galveston, TX, USArmatalon@utmb.edu(Section: Amino Acid Metabolism)

DIETER METZE

Department of Dermatology,University Hospital of Muenster,Muenster, GermanyDieter.Metze@ukmuenster.de(Section: Skin)

LESTER PACKER

Department of Molecular Pharmacology andToxicology,School of Pharmacy,University of Southern California,Los Angeles, CA, USApackerresearch@aol.com(Section: Vitamins & Trace Elements)

MARKUS PFISTER

Department of Otolaryngology and Head andNeck Surgery,University of Tuebingen,Tuebingen, Germanympfister@onlinehome.de(Section: ENT)

MIKE RECHER

Clinic for Immunology, Department of InternalMedicine,University Hospital Zurich,Zurich, Switzerlandrechermike@bluewin.ch(Section: Immunology)

KONRAD SANDHOFF

LIMES Institute Program Unit,Membrane Biology and LipidBiochemistry Unit,University of Bonn,Bonn, Germanysandhoff@uni-bonn.de(Section: Lipid Storage Diseases)

ALBERT SCHINZEL

Institute of Medical Genetics,University of Zurich,Zurich, Switzerlandschinzel@medgen.unizh.ch(Section: Chromosomal Disorder)

H. ANNE SIMMONDS

Purine Research Unit,Guy's Hospital,London, UKanne.simmonds@kcl.ac.uk(Section: Purine Metabolism)

x Field Editors

OLAF STRAUßExperimental Ophthalmology,Department of Ophthalmology,University Regensburg,Regensburg, Germanystrauss@eye-regensburg.de(Section: Ophthalmology)

HUGO TEN CATE

Department of Internal Medicine and of Biochemistry,Maastricht University,Maastricht, The Netherlandsh.tencate@BIOCH.Unimaas.nl(Section: Blood Disorders)

KURT ULLRICH

Children's Hospital,University Clinics Eppendorf,Hamburg, Germanyullrich@uke.uni-hamburg.de(Section: Amino Acid Metabolism)

HANS-PETER ZENNER

Department of Otolaryngology and Head andNeck Surgery,University of Tuebingen,Tuebingen, Germanyhans-peter.zenner@med.uni-tuebingen.de(Section: ENT)

EBERHARDT ZRENNER

University Eye Hospital,Tuebingen, Germanyezrenner@uni-tuebingen.de(Section: Ophthalmology)

Field Editors xi

List of Contributors

DIETRICH ABECK

Department of Dermatology and AllergologyTechnische Universitaet MunichMunichGermanyDietrich.Abeck@lrz.tu-muenchen.de

OLADAPO ADEWUYA

Department of PathologyUniversity of Texas Medical BranchHouston, TXUSA

GUIDO ADLER

Department of Internal Medicine IUlm UniversityUlmGermanyguido.adler@uniklinik-ulm.de

ALI R. AFZAL

Department of Cardiological SciencesSt. George’s Hospital Medical SchoolLondonUKarafzal@sghms.ac.uk

VIMLA S. AGGARWAL

Department of Molecular GeneticsAlbert Einstein College of MedicineNew York, NYUSA

PUSHPA AGRAWAL

Institute of Microbial TechnologyChandigarhIndiapushpa@imtech.res.in

WALID AHMAR

MonashHeartSouthern Health and Department of MedicineMonash UniversityMelbourne, VICAustraliaw_ahmar@yahoo.com

MINRONG AI

Department of Genetics and Center for Human GeneticsCase School of MedicineCleveland, OHUSAminrong.ai@case.edu

NAIDU K. AKHILENDER

Department of Biochemistry and NutritionCentral Food Technological Research InstituteMysoreIndiakanaidu@mailcity.com

SUHAIL ALAM

Department of Environmental and Biomolecular SystemsOGI School of Science and EngineeringOregon Health and Science UniversityBeaverton, ORUSA

JESSY J. ALEXANDER

Section of NephrologyUniversity of ChicagoChicago, ILUSAjalexand@medicine.bsd.uchikago.edu

GIDON ALMOGY

Department of SurgeryHadassah University HospitalJerusalemIsrael

NURSEL ALPAN

Department of Cardiology, Ministry of HealthAnkara Diskapi Children’s Diseases Training and ResearchHospitalAnkaraTurkey

CRISTINA AMAT DI SAN FILIPPO

Medical Genetics/PediatricsUniversity of UtahSalt Lake City, UTUSAcristina.Filippo@hsc.utah.edu

RICHARD F. AMBINDER

Viral Oncology Program, Sidney Kimmel Cancer CenterJohns Hopkins UniversityBaltimore, MDUSAAmbinri@jhmi.edu

CHRISTINA M. AMBROS-RUDOLPH

Department of DermatologyMedical University of GrazGrazAustriachristina.ambros-rudolph@meduni-graz.at

DETLEV AMEIS

Department of Internal Medicine IIEvangelic Hospital LutherhausEssenGermanydetlev.ameis@lutherhaus.de

KATHERINE K. ANAGNOSTOPOULOU

First Cardiology DepartmentOnassis Cardiac Surgery CenterAthensGreece

YUMIKO ANDO

Department of Diagnostic and Interventional RadiologyOita University Faculty of MedicineOitaJapan

VICENTE ANDRÉS

Vascular Biology UnitInstituto de Biomedicina de Valencia (IBV-CSIC)Spanish Council for Scientific ResearchValenciaSpainvandres@ibv.csic.es

BRAGE STORSTEIN ANDRESEN

Institute of Human Genetics and Research Unit for MolecularMedicineAarhus UniversityAarhusDenmarkbrage@ki.au.dk

CORRADO ANGELINI

Department of NeurosciencesUniversity of PadovaPadovaItalycorrado.angelini@unipd.it

CHARLES ANTZELEVITCH

Experimental CardiologyMasonic Medical Research LaboratoryUtica, NYUSAca@mmrl.edu

AMELIA ARÁNEGA

Department of Experimental BiologyUniversity of JaenJaenSpainaaranega@ujaen.es

SAMUEL J. ARBES

Laboratory of Respiratory Biology, NIH/NIEHSResearch Triangle Park, NCUSA

MONICA ARENAS

Purine Research LaboratoryGuy’s HospitalLondonUKMonica.arenas_hernandez@kcl.ac.uk

ANDRES AREND

Department of AnatomyUniversity of TartuTartuEstoniaAndres.Arend@ut.ee

JOSEP M. ARGILÉS

Departament de Bioquímica i BiologiaMolecular Universitat de BarcelonaBarcelonaSpainjargiles@ub.edu

GEMA ARICETA

Division of Pediatric Kidney DiseasesHospital de CrucesVizcayaSpain

JELENA S. ARNOLD

FRIEDRICH ASMUS

Department of Neurodegnerative DiseasesHertie-Institute for Clinical Brain ResearchCenter of NeurologyTuebingenGermanyfriedrich.asmus@uni-tuebingen.de

JOHN R. ASPLIN

Department of Medicine, Section NephrologyUniversity of ChicagoChicago, ILUSAjasplin@litholink.com

MOHAMED G. ATTA

Department of NephrologyJohns Hopkins University School of MedicineBaltimore, MDUSAmatta1@jhmi.edu

MASSIMO ATTANASIO

Department of PediatricsUniversity of MichiganAnn Arbor, MIUSAmassimoa@med.umich.edu

MARINA AUNAPUU

Department of AnatomyUniversity of TartuTartuEstoniaMarina.Aunapuu@ut.ee

INGO B. AUTENRIETH

Institute for Medical Microbiology and HygieneUniversity of TuebingenTuebingenGermanyingo.autenrieth@med.uni-tuebingen.de

xiv List of Contributors

MAURIZIO AVERNA

Department of Clinical Medicine and Emerging DiseasesUniversity of PalermoPalermoItaly

MA. ROSA AVILA

Comprehensive Epilepsy Program, Epilepsy Genetics/Genomics Laboratories and Epilepsy Center of ExcellenceUCLA School of Medicine and VA GLAHSLos Angeles, CAUSA

JUAN CARLOS AYUS

Renal Consultants of HoustonHouston, TXUSA

GOHAR AZHAR

University of Arkansas for Medical SciencesGRECC and CAVHSLittle Rock, ARUSAazhargohar@uams.edu

SHAH AZMOON

Division of CardiologyVeterans Affairs Greater Los Angeles Healthcare System andThe David Geffen School of Medicine at UCLALos Angeles, CAUSA

FERNANDO AZPIROZ

Digestive System Research UnitHospital General Vall d’HebronBarcelonaSpainfernando.azpiroz@telefonica.net

ANGELO AZZI

Vascular Biology Laboratory JM USDA – HNRCATufts University BostonBoston, MSUSAangelo.azzi@tufts.edu

ULRIKE BACHER

Department of Stem Cell TransplantationUniversity of HamburgHamburgGermanyu.bacher@uke.de

RAFFAELE BADOLATO

Clinica PediatricaUniversita’ di BresciaBresciaItalybadolato@med.unibs.it

JONATHAN BAETS

Neurogenetics GroupVIB Department of Molecular GeneticsUniversity of AntwerpAntwerpBelgiumJonathan.Baets@ua.ac.be

MATHIAS BÄHR

Department of NeurologyNational Reference Center for TSE SurveillanceGeorg-August UniversityGoettingenGermanymbaehr@gwdg.de

MEI BAI

Division of Endocrinology, Diabetes and HypertensionBrigham and Women’s HospitalBoston, MAUSAmbai@rics.bwh.harvard.edu

DAMIAN MILES BAILEY

Neurovascular Research LaboratoryFaculty of Health, Science and SportUniversity of GlamorganPontypriddUKdbailey1@glam.ac.uk

ALFONSO BALDI

Department of Biochemistry, Section of PathologySecond University of NaplesNaplesItalyalfonsobaldi@tiscali.it

NICOLA BALDINI

Laboratorio di Fisiopatologia degli Impianti OrtopediciIstituto Ortopedico RizzoliBolognaItaly

WENDY BALEMANS

Department of Medical GeneticsUniversity and University Hospital of AntwerpAntwerpBelgiumwendy.balemans@ua.ac.be

MANFRED BALLMANN

Department of Pediatric Pneumology and NeonatologyMedical School HannoverHannoverGermanyBallmann.Manfred@MH-Hannover.de

MANISHA BALWANI

Department of Genetics and Genomic SciencesMount Sinai School of Medicine of New York UniversityNew York, NYUSA

List of Contributors xv

ANNEMIEKE M. BAMS-MENGERINK

Department of PediatricsEmma Children’s HospitalAcademic Medical CenterAmsterdamThe Netherlandsa.m.mengerink@amc.uva.nl

IRIS BARTELS

Institute of Human GeneticsUniversity GoettingenGoettingenGermanyibartel@gwdg.de

ANDREAS BARTHEL

Endokrinologikum RuhrBochumGermany

DEBORAH BARTHOLDI

Institute of Medical GeneticsUniversity of ZurichZurichSwitzerlanddebobarth@yahoo.com

OLIVER BARTSCH

Institute of Clinical GeneticsDresden University of TechnologyDresdenGermanyobartsch@rcs.urz.tu-dresden.de

PETER BÄRTSCH

Department of Internal Medicine VIIDivision of Sports MedicineMedical University ClinicHeidelbergGermanypeter.bartsch@med.uni-heidelberg.de

MURAT BAS

HNOTechnische UniversitaetMunichGermany

DANIEL BATLLE

Division of Nephrology and HypertensionFeinberg School of MedicineNorthwestern UniversityChicago, ILUSAd-batlle@northwestern.edu

AGATINO BATTAGLIA

The Stella Maris ClinicalResearch Institute for Child and Adolescent Neurologyand PsychiatryCalambroneItalyagatino.battaglia@inpe.unipi.it

ALESSANDRA BAUMER

Institute of Medical GeneticsUniversity of ZurichScherzenbachSwitzerlandbaumer@medgen.uzh.ch

JEROEN J. BAX

Department of CardiologyLeiden University Medical CenterLeidenThe Netherlandsjbax@knoware.nl

JOHANNES BAYER

Department of DermatologyUniversity of MuensterMuensterGermany

NIKOLAOS E. BECHRAKIS

Department of OphthalmologyMedical University of InnsbruckInnsbruckAustrianikolaos.bechrakis@i-med.ac.at

MICHAEL BECK

Children’s HospitalUniversity of MainzMainzGermanybeck@kinder.klinik.uni-mainz.de

HEINZ BECK

Laboratory of Experimental Epileptologyand Cognition ResearchDepartment of EpileptologyLife and Brain CenterBonnGermanyHeinz.Beck@ukb.uni-bonn.de

MICHAEL A. BECKER

Department of MedicineUniversity of ChicagoPritzker School of MedicineChicago, ILUSAmbecker@medicine.bsd.uchicago.edu

ALAN H. BEGGS

Genetics Division and Program in GenomicsChildren’s HospitalHarvard Medical SchoolBoston, MAUSAbeggs@enders.tch.harvard.edu

xvi List of Contributors

FRANK BEIER

CIHR Group in Skeletal Development and RemodelingDepartment of Physiology and PharmacologyUniversity of Western OntarioLondon, ONCanadafbeier@uwo.ca

STEFAN BEISSERT

Department of DermatologyUniversity of MuensterMuensterGermanybeisser@uni-muenster.de

RAFFI BEKEREDJIAN

Department of CardiologyUniversity of HeidelbergHeidelbergGermanyraffi.bekeredjian@med.uni-heidelberg.de

HENDRICA BELGE

Division of NephrologyUCL Medical SchoolBrusselsBelgium

JOHN W. BELMONT

Department of Molecular and Human GeneticsBaylor College of MedicineHouston, TXUSAjbelmont@bcm.tmc.edu

JOHN A. BELPERIO

Department of Internal MedicineThe David Geffen School of Medicine at UCLALos Angeles, CAUSA

MICHAEL BENATAR

Department of NeurologyEmory University School of MedicineAtlanta, GAUSAmbenata@emory.edu

HERZL BEN-HUR

Laboratory of Experimental MedicineRehovotIsraelherzlb@clalit.org.il

ANGELA BENTIVEGNA

Division of Medical GeneticsSan Paolo School of MedicineUniversity of MilanMilanItaly

ROSSANA BERARDI

Clinica di Oncologia MedicaUniversità Politecnica delle MarcheOspedali Riuniti Umberto I – GM Lancisi – G Salesi diAnconaAnconaItaly

JO H. M. BERDEN

Nephrology Research LaboratoryNijmegen Centre for Molecular Life SciencesDivision of NephrologyRadboud University Nijmegen Medical CentreNijmegenThe NetherlandsJ.Berden@nier.umcn.nl

WOLFGANG BERGER

Division of Medical Molecular Genetics and GeneDiagnosticsInstitute of Medical GeneticsUniversity of ZurichSchwerzenbachSwitzerlandberger@medgen.uzh.ch

MARGHERITA BERGOMI

Department of Public Health SciencesUniversity of Modena and Reggio EmiliaModenaItalybergomi@unimore.it

SAMUEL F. BERKOVIC

Epilepsy Research CentreDepartment of MedicineUniversity of MelbourneWest Heidelberg, VICAustralia

MAURO BERNARDI

Dipartimento di Medicina Interna, Cardioangiologia,EpatologiaAlma Mater Studiorum Università di BolognaBolognaItalymauro.bernardi@unibo.it

MARK BERNEBURG

Department of DermatologyEberhard Karls UniversityTuebingenGermanymark.berneburg@med.uni-tuebingen.de

FELIX BEUSCHLEIN

Medical ClinicLudwig-Maximilians-UniversityMunichGermanyfelix.beuschlein@med.uni-muenchen.de

List of Contributors xvii

RUDI BEYAERT

Department of Molecular BiologyGhent University, ZwijnaardeGhentBelgiumRudi.Beyaert@dmbr.ugent.be

KATRIN BEYER

Department of PathologyHospital Universitari Germans Trias i PujolBarcelonaSpainkatrinbeyer@hotmail.com

FRIEDHELM BEYERSDORF

Department of Cardiovascular SurgeryUniversity Medical Center FreiburgFreiburgGermany

ROBERT J. BEYNON

Department of Veterinary Preclinical SciencesUniversity of LiverpoolLiverpoolUKr.beynon@liv.ac.uk

KONRAD BEYREUTHER

ZMBHUniversity of HeidelbergHeidelbergGermanybeyreuther@zmbh.uni-heidelberg.de

MICHALA BEZDEKOVA

Department of Pathology andLaboratory of Molecular PathologyPalacky UniversityOlomoucCzech Republic

RAVI BHARGAVA

Department of RadiologyStollery Children’s HospitalUniversity of AlbertaEdmonton, ABCanadarbhargav@cha.ab.ca

JAVEED I. BHAT

Department of PediatricsShere-Kashmir Institute of Medical Sciences (SKIMS)Srinagar, KashmirIndia

MUSHTAQ A. BHAT

Department of PediatricsShere-Kashmir Institute of Medical Sciences (SKIMS)Srinagar, KashmirIndiambhat47@rediffmail.com

KAILASH P. BHATIA

Sobell Department of Motor Neuroscienceand Movement DisordersInstitute of NeurologyLondonUKkbhatia@ion.ucl.ac.uk

CHRISTIAN G. BIEN

Department of EpileptologyUniversity of BonnBonnGermanyChristian.Bien@ukb.uni-bonn.de

MARTINA BIENOVA

Department of DermatovenerologyPalacky University and University HospitalOlomoucCzech Republicmartina.bienova@fnol.cz

HANS K. BIESALSKI

Department of Biological Chemistry and NutritionUniversity HohenheimStuttgartGermanybiesal@uni-hohenheim.de

BEVERLY M. K. BILLER

Neuroendocrine UnitMassachusetts General HospitalBoston, MAUSAbbiller@partners.org

MARCELO GUSTAVO BINKER

CBRHC InstituteBuenos AiresArgentina

RIFAT BIRCAN

Department of Medical BiologyMarmara University Medical SchoolIstanbulTurkey

MICHELE BISCEGLIA

Department of PathologyIRCCS “Casa Sollievo della Sofferenza” HospitalSan Giovanni RotondoItalym.bisceglia@operapadrepio.it

STEPHAN C. BISCHOFF

Nutritional Medicine and PreventionUniversity of HohenheimStuttgartGermanybischoff.stephan@uni-hohenheim.de

xviii List of Contributors

ROLAND BITSCH

Institute for NutritionFriedrich-Schiller-University JenaJenaGermanyRoland.Bitsch@uni-jena.de

JERRY G. BLAIVAS

Department of UrologySuny Downstate Medical SchoolNew York, NYUSAurojock@a.l.com

NENAD BLAU

Division of Clinical Chemistry and BiochemistryUniversity Children’s HospitalZurichSwitzerlandNenad.Blau@kispi.uzh.ch

ANTHONY J. BLEYER

Section of NephrologyWake Forest University School of MedicineWinston-Salem, NCUSAableyer@wfubmc.edu

NIKOLAUS BLIN

Department of Molecular PathologyUniversity Hospital of TuebingenTuebingenGermany

GERARD C. BLOBE

Medicine, Pharmacology and Cancer BiologyDuke UniversityDurham, NCUSAblobe001@mc.duke.edu

ANNA BLONSKA

HUBERT E. BLUM

Department of Medicine IIUniversity HospitalFreiburgGermanyhubert.blum@uniklinik-freiburg.de

OLAF A. BODAMER

Biochemical Genetics and National Neonatal ScreeningLaboratories Department of General PediatricsUniversity Children’s Hospital ViennaViennaAustriaolaf.bodamer@univie.ac.at

JOHANNES G. BODE

Department of Gastroenterology, Hepatology andInfectiologyUniversity-HospitalHeinrich-Heine University DuesseldorfDuesseldorfGermanyJohannes.Bode@med.uni-duesseldorf.de

CORNELIUS F. BOERKOEL

Centre for Molecular Medicine and Therapeutics, Child andFamily Research InstituteDepartment of Medical GeneticsUniversity of British ColumbiaVancouver, BCCanadanboerkoel@cmmt.ubc.ca

MARKUS BÖHM

Department of DermatologyUniversity Hospital of MuensterMuensterGermanybohmm@uni-muenster.de

REGINA BÖKENKAMP

Department of Anatomy and EmbryologyLeiden University Medical CenterLeidenThe NetherlandsR.Bokenkamp@lumc.nl

JACKY BONAVENTURE

Institut CurieCentre Universitaire Paris SudOrsayFrancejacky.bonaventure@curie.u-psud.fr

BRIGITTA BONDY

Section Psychiatric Genetics and NeurochemistryPsychiatric Hospital of Munich UniversityMunichGermanybrigitta.bondy@med.uni-muenchen.de

HERBERT L. BONKOVSKY

Research Cannon Research CenterCarolinas Medical CenterCharlotte, NCUSABonkovsky@uchc.edu

GISÈLE BONNE

Institut de Myologie UPMCGroupe Hospitalier Pitié-SalpêtrièreParisFranceg.bonne@institut-myologie.org

List of Contributors xix

KEVIN M. BONNEY

Departments of Pathology and Microbiology-ImmunologyNorthwestern University Feinberg School of MedicineChicago, ILUSAk-bonney@northwestern.edu

CHRISTOPHER J. BOOS

Hemostasis, Thrombosis and Vascular Biology UnitUniversity Department of MedicineCity HospitalBirminghamUK

FRANCESCO BORGIA

Institute of DermatologyPoliclinico UniversitarioMessinaItaly

JULIAN ILCHEFF BORISSOFF

Laboratory for Clinical Thrombosis and HemostasisDepartment of Internal MedicineUniversity of MaastrichtMaastrichtThe Netherlands

STEFAN R. BORNSTEIN

Medical Clinic IIIUniversity Hospital DresdenDresdenGermanyStefan.Bornstein@uniklinikum-dresden.de

CARL BORREBAECK

Department of ImmunotechnologyLund UniversityLundSwedencarl.borrebaeck@immun.lth.se

NIELS BORREGAARD

Department of HematologyRigshospitalet University of CopenhagenCopenhagenDenmarkniels.borregaard@rh.regionh.dk

DORIN-BOGDAN BORZA

Division of NephrologyVanderbilt University School of MedicineNashville, TNUSABogdan.Borza@vanderbilt.edu

MARK BOTHWELL

Department of Physiology and BiophysicsUniversity of WashingtonSeattle, WAUSAmab@u.washington.edu

HENRI BOUNAMEAUX

Angiology and HemostasisUniversity Hospitals of GenevaGenevaSwitzerlandhenri.bounameaux@medecine.unige.ch

THOMAS BOURGERON

Pasteur InstituteUniversity Denis DiderotParisFrancethomasb@pasteur.fr

PATRICIA T. BOZZA

Immunopharmacology LaboratoryInstituto Oswaldo CruzFundação Oswaldo CruzRio de JaneiroBrazilpbozza@ioc.fiocruz.br

MARIA LUISA BRANDI

Regional Center for Hereditary Endocrine TumoursDepartment of Internal MedicineUniversity of FlorenceFlorenceItalym.brandi@dfc.unifi.it

THOMAS BRANDT

Department of NeurologyLudwig-Maximilians-UniversityKlinikum GroßhadernMunichGermanythomas.brandt@med.uni-muenchen.de

MARKUS BRAUN-FALCO

Department of DermatologyUniversity of FreiburgFreiburgGermanymarkus.braun-falco@uniklinik-freiburg.de

ALANNA F. BREE

Texas Children’s HospitalHouston, TXUSAafbree@TexasChildrensHospital.org

RANDOLF BREHLER

Department of DermatologyUniversity Hospital of MuensterMuensterGermanyAllergologie@mednet.uni-muenster.de

MICHAEL BRIGGS

Wellcome Trust Centre for Cell Matrix ResearchUniversity of ManchesterManchesterUKmike.briggs@manchester.ac.uk

xx List of Contributors

PEDRO BRITES

Laboratory of Genetic Metabolic DisordersAcademic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlandsp.m.brites@amc.uva.nl

KNUT BROCKMANN

Department of Pediatrics and Pediatric NeurologyUniversity of GoettingenGoettingenGermanykbrock@med.uni-goettingen.de

STEFAN BRÖER

School of Biochemistry and Molecular BiologyAustralian National UniversityCanberra, ACTAustraliaStefan.broeer@anu.edu.au

EIRINI I. BROKALAKI

Department of Dermatology, Allergology and VenerologyUniversity of Duisburg-EssenEssenGermanyEirini.Brokalaki@uk-essen.de

DAVID W. BROWN

Department of CardiologyChildren’s HospitalBoston, MAUSAdavid.brown@cardio.chboston.org

EDWARD M. BROWN

Division of Endocrinology, Diabetes and HypertensionBrigham and Women’s HospitalBoston, MAUSAembrown@rics.bwh.harvard.edu

LEENA BRUCKNER-TUDERMAN

Department of DermatologyUniversity Medical CenterFreiburgGermanytuderma@uni-muenster.de

ANNA BRUNN

Department of NeuropathologyUniversity of CologneCologneGermany

MARTINA BRUNNER

Department of Dermatology, Venerology, Allergology andImmunologyDessau Medical CenterDessauGermanymartina.brunner@klinikum-dessau.de

TOMAS BRYCHTA

SPEA Olomouc, s.r.o.OlomoucCzech Republictomas.brychta@volny.cz

SVETLANA BRYCHTOVA

Department of Pathology and Laboratory of MolecularPathologyPalacky UniversityOlomoucCzech Republicsvetlana.brychtova@seznam.cz

JAN BUBENÍK

Department of Tumour ImmunologyInstitute of Molecular GeneticsAcademy of Sciences of the Czech RepublicPragueCzech Republicbubenik@img.cas.cz

THORSTEN BUCH

University Clinic ZurichZurichSwitzerlandthorsten.buch@neuroimm.uzh.ch

KAREN BUCKINGHAM

Department of Obstetrics and GynaecologyUniversity of AucklandAuckland, AUKNew Zealandkaren@onlinecom.co.nz

MARK G. BUCKLEY

Infection, Inflammation and RepairUniversity of SouthamptonSchool of MedicineSouthamptonUK

DENNIS E. BULMAN

Ottawa Health Research InstituteOttawa, ONCanadadbulman@ohri.ca

CARSTEN BÜNING

Department of Gastroenterology,Hepatology and EndocrinologyCharité University HospitalBerlinGermanycarsten.buening@charite.de

GÜNTER BURG

Department of DermatologyUniversity Hospital ZurichZurichSwitzerlandburg@derm.unizh.ch

List of Contributors xxi

ANNIKA BUROW

Swiss Cardiovascular Center BernUniversity HospitalBernSwitzerland

HARAN BURRI

Cardiovascular DepartmentHôpital de La TourMeyrinSwitzerland

ANDREW K. BURROUGHS

Department of Liver Transplantationand Hepatobiliary SurgeryRoyal Free HospitalHampstead, LondonUKAndrew.Burroughs@royalfree.nhs.uk

BARBARA BUSERT

Institute of Human GeneticsBonnGermany

LUCA BUSETTO

Department of Medical and Surgical SciencesUniversity of PadovaPadovaItalyluca.busetto@unipd.it

KATE BUSHBY

Institute of Human GeneticsNewcastle UniversityInternational Centre for LifeNewcastle upon TyneUKkate.bushby@ncl.ac.uk

SÍLVIA BUSQUETS

Departament de Bioquímica i Biologia MolecularUniversitat de BarcelonaBarcelonaSpainsilviabusquets@ub.edu

JANINE BÜTTNER

Department of Gastroenterology, Hepatology andEndocrinologyCharité University HospitalBerlinGermanyjanine.buettner@charite.de

KENNETH CALAMIA

Department of RheumatologyMayo ClinicJacksonville, FLUSAcalamia.kenneth@mayo.edu

CECILIA CAMACHO-HÜBNER

Pediatric Endocrinology SectionDepartment of EndocrinologySt. Bartholomew’s HospitalLondonUKc.camcho-hubner@mds.qmw.ac.uk

MARYANN CAMERON

Center for Mineral Metabolism and Clinical ResearchUniversity of Texas Southwestern Medical CenterDallas, TXUSAMaryAnn.Cameron@utsouthwestern.edu

MICHAEL CANTZ

Institute of PathologyUniversity of HeidelbergHeidelbergGermanyMichael.Cantz@med.uni-heidelberg.de

GIOVAMBATTISTA CAPASSO

Department of MedicineSecond University of NaplesNaplesItalygb.capasso@unina2.it

JONATHAN R. CARAPETIS

Menzies School of Health ResearchCharles Darwin UniversityDarwin, NTAustraliajonathan.carapetis@rch.org.au

MARTIN C. CAREY

Gastroenterology Division, Harvard Medical SchoolBrigham and Women’s HospitalBoston, MAUSAmccarey@rics.bwh.harvard.edu

MICHELLE A. CAREY

Laboratory of Respiratory BiologyNIH/NIEHSResearch Triangle Park, NCUSA

NATALIA CASAMITJANA

Servei d’ImmunologiaHospital de Sant PauBarcelonaSpain

MARCIA SPINELLI CASANOVA

Department of Oral DiagnosisUNICAMP, Piracicaba Dental SchoolSão PauloBrazilmscasanova@uol.com.br

xxii List of Contributors

STEFANO CASCINU

Clinica di Oncologia MedicaUniversità Politecnica delle MarcheOspedali Riuniti Umberto I – GM Lancisi – G Salesi diAnconaAnconaItalycascinu@yahoo.com

MARCO CASTORI

Medical Genetics, Experimental Medicine DepartmentUniversity La SapienzaS. Camillo-Forlanini HospitalRomeItalym.castori@idi.it

PATRIZIO CATUREGLI

Department for Pathology and ImmunologyJohns Hopkins UniversityBaltimore, MDUSA

ANDREA CAVANI

Laboratory of Immunology and AllergologyIstituto Dermopatico dell’ImmacolataIDI-IRCCSRomeItalyvcavani@idi.it

FERNANDO CENDES

Department of NeurologyUniversity of Campinas – UNICAMPCampinas, SPBrazilfcendes@gmail.com

LORENZO CERRONI

Department of DermatologyMedical University of GrazGrazAustrialorenzo.cerroni@meduni-graz.at

ELIZA F. CHAKRAVARTY

Division of Immunology and RheumatologyStanford University School of MedicinePalo Alto, CAUSAelizac@stanford.edu

STEPHEN CHALLACOMBE

Department of Oral MedicineKings College London Dental InstituteLondonUK

LARRY CHAMLEY

Fertility PlusGreenlane Clinical CentreAuckland, AUKNew Zealandl.chamley@auckland.ac.nz

ANTHONY CHANG

Section of NephrologyUniversity of ChicagoChicago, ILUSA

PETER CHARBEL ISSADepartment of OphthalmologyUniversity of BonnBonnGermany

SAURABH CHATTERJEE

Immunology and Hyperthermia SectionRadiation Biology and Health Sciences DivisionBhabha Atomic Research CentreMumbaiIndia

KAZUAKI CHAYAMA

Department of Medicine and Molecular ScienceGraduate School of Biomedical SciencesHiroshima UniversityHiroshimaJapanchayama@mba.ocn.ne.jp

ROY F. CHEMALY

Department of Infectious Diseases, Infection Control andEmployee HealthThe University of Texas M. D. Anderson Cancer CenterHouston, TXUSArfchemaly@mdanderson.org

ZHUANG CHEN

Department of Pediatrics,Biochemistry and Molecular BiologyIndiana University School of MedicineHerman B Wells Center for Pediatric ResearchIndianapolis, INUSA

S. R. WAYNE CHEN

Libin Cardiovascular Institute of AlbertaUniversity of CalgaryCalgary, ABCanadaSwchen@uealgary.ca

ALFREDO CHETTA

Department of Clinical Sciences, Respiratory Disease SectionUniversity of ParmaParmaItalychetta@unipr.it

KAVITHA M. CHINNAIYAN

Division of Cardiology, Department of Internal MedicineWilliam Beaumont HospitalRoyal Oak, MIUSAkchinnaiyan@beaumont.edu

List of Contributors xxiii

PERCY CHIU

Department of Obstetrics and GynecologyCollege of MedicinePennsylvania State UniversityHershey, PAUSA

PAUL CHEUNG-LUNG CHOI

Department of Anatomical and Cellular PathologyPrince of Wales HospitalChinese University of Hong KongHong Kong Special Administrative RegionPeople’s Republic of China

EVANGELOS CHOLONGITAS

Department of Liver Transplantation and HepatobiliarySurgeryRoyal Free HospitalHampstead, LondonUK

JANICE Y. CHOU

Section on Cellular Differentiation, HeritableDisorders BranchNational Institute of Child Health and Human DevelopmentNational Institutes of HealthBethesda, MDUSAChouja@mail.nih.gov

CHIU-WING WINNIE CHU

Department of Diagnostic Radiology and Organ ImagingPrince of Wales HospitalHong Kong Special Administrative RegionPeople’s Republic of China

KIRPAL S. CHUGH

Department of NephrologyPostgraduate Institute of Medical Education and ResearchChandigarhIndiachughks_chd@dataone.in

ROBERTO CICCONE

Genetica MedicaUniversità di PaviaPaviaItaly

ANDREA CIGNARELLA

Department of Pharmacological SciencesUniversity of MilanMilanItalyandrea.cignarella@unimi.it

DANIELA CILLONI

Department of Clinical and Biological SciencesUniversity of Turin, S.Luigi HospitalTurinItalydaniela.cilloni@unito.it

ADRIAN J. L. CLARK

Pediatric Endocrinology SectionDepartment of EndocrinologySt. Bartholomew’s HospitalLondonUK

ANTHONY J. CLEARE

Institute of PsychiatryKings College LondonLondonUKa.cleare@iop.kcl.ac.uk

ANGEL COGOLLUDO

Department of PharmacologySchool of MedicineUniversity Complutense of MadridMadridSpainacogolludo@ift.csic.es

DENNIS V. COKKINOS

First Cardiology DepartmentOnassis Cardiac Surgery CenterAthensGreececokkino1@otenet.gr

NANANDA F. COL

Center for Outcomes Research and EvaluationMaine Medical CenterPortland, MEUSANCol@lifespan.org

DAVID E. C. COLE

Departments of Laboratory Medicine and Pathobiology,Medicine and Pediatrics (Genetics)University of TorontoToronto, ONCanada

GIUSEPPINA COPPOLA

Unit of Rheumatology, Department of Clinical Medicine andImmunological SciencesUniversity of SienaSienaItalycoppola@unisi.org

VALÉRIE CORMIER-DAIRE

Département de Génétique and INSERMUniversité Paris VHôpital Necker Enfants MaladesParisFrance

CATHERINE E. CORREIA

Division of Pediatric EndocrinologyUniversity of Florida College of MedicineGainsville, FLUSA

xxiv List of Contributors

JONATHAN CORREN

Allergy Research FoundationLos Angeles, CAUSAjcorren@ucla.edu

LAURA IRIS COSEN-BINKER

Cátedra de Gastroenterología y Enzimología Clínica –Departamento de Bioquímica Clínica, Facultad de Farmacia yBioquímicaUniversidad de Buenos AiresBuenos AiresArgentinalaura.cosen.binker@utoronto.ca

CORNELIUS COURTS

PATRICK COUTURE

Institute on Nutraceuticals and Functional FoodsLaval UniversityQuébec, QCCanada

JACK B. COWLAND

Department of HematologyRigshospitalet University of CopenhagenCopenhagenDenmarkjack.cowland@rh.regionh.dk

JAMES E. CROWE JR.Program in Vaccine SciencesVanderbilt UniversityNashville, TNUSAjames.crowe@vanderbilt.edu

ANNETTE CRYER

Department of OtorhinolaryngologyKlinikum Karlsruhe gGmbHKarlsruheGermany

ANTONIO L. CUESTA-MUÑOZ

Centre for the Study of Monogenic Diseases of PancreaticBeta-cellFundación IMABIS, Carlos Haya HospitalMálagaSpainantoniol.cuesta.exts@juntadeandalucia.es

VANESSA F. CURY

Departments of Pharmacology and Oral PathologyUniversidade Federal de Minas GeraisBelo HorizonteBrazil

PEDRO R. CUTILLAS

Luwig Institute for Cancer ResearchLondonUKpedro@ludwig.ucl.ac.uk

BRUNO DALLAPICCOLA

Department of Experimental MedicineUniversity La Sapienza and CSS-Mendel InstituteRomeItalydallapiccola@css-mendel.it

ROBERT DALLA POZZA

Department of Pediatric CardiologyLudwig-Maximilians-UniversityMunichGermanyRobert.DallaPozza@med.uni-muenchen.de

HENRYK DANCYGIER

Department of Internal Medicine IIKlinikum Offenbach GmbHOffenbachGermanyhenryk.dancygier@klinikum-offenbach.de

ADRIAN DANEK

Department of NeurologyLudwig-Maximilians-University MunichMunichGermanydanek@lmu.de

RUTH DANZEISEN

Department of NeurologyUniversity of UlmUlmGermanyruth.danzeisen@medizin.uni-ulm.de

SUKRAN DARCAN

Department of Pediatric Endocrinology and MetabolismFaculty of MedicineEge UniversityBornova İzmirTurkeysukran.darcan@ege.edu.tr

NIKLAS DARIN

Department of PediatricsSahlgrenska University HospitalGöteborgSwedenniklas.darin@vgregion.se

WALTER DÄUBENER

Institute of Medical Microbiology and Hospital HygieneUniversity ClinicHeinrich-Heine-UniversityDuesseldorfGermanyWalter.Daeubener@uni-duesseldorf.de

List of Contributors xxv

SANDEEP S. DAVE

Department of Medicine, Oncology DivisionInstitute for Genome Sciences and PolicyDuke UniversityDurham, NCUSAdaves@mail.nih.gov

GLORIA L. DAVID

BATYA B. DAVIDOVICI

The Dermatology UnitKaplan Medical CenterRechovotIsrael

H. DELE DAVIES

Department of PediatricsAlberta Children’s HospitalUniversity of CalgaryCalgary, ABCanada

TERRY F. DAVIES

Division of EndocrinologyMount Sinai School of MedicineNew York, NYUSAterry.davies@mountsinai.org

MANNING R. DAVIS

Department of Physiology and BiophysicsUniversity of Mississippi Medical CenterJackson, MSUSAdmanning@physiology.umsmed.edu

PETER DE JONGHE

Neurogenetics GroupVIB Department of Molecular GeneticsUniversity of AntwerpAntwerpBelgiumpeter.dejonghe@ua.ac.be

OSCAR DE LA CALLE-MARTIN

Servei d’ImmunologiaHospital de Sant PauBarcelonaSpainodlcalle@santpau.es

KLAUS-MICHAEL DEBATIN

Division of Pediatric Endocrinology and DiabetesUniversity of UlmUlmGermany

HANNA DEBIEC

University Pierre et Marie CurieParisFrancehanna.debiec@chusa.jussieu.fr

MARTINA DECKERT

Department of NeuropathologyUniversity of CologneCologneGermanymartina.deckert@uni-koeln.de

CHARUNGTHAI DEJTHEVAPORN

Centre for Neuromuscular Disease and Department ofMolecular NeuroscienceInstitute of NeurologyUniversity College LondonLondonUK

ETIENNE DELACRÉTAZ

Swiss Cardiovascular Center BernUniversity HospitalBernSwitzerlandetienne.delacretaz@insel.ch

ANTONIO V. DELGADO-ESCUETA

Comprehensive Epilepsy Program, Epilepsy Genetics/Genomics Laboratories and Epilepsy Center of ExcellenceUCLA School of Medicine and VA GLAHSLos Angeles, CAUSAescueta@ucla.edu

LUIZ DE MARCO

Departments of Pharmacology and Oral PathologyUniversidade Federal de Minas GeraisBelo HorizonteBrazilldemarco@ufmg.br

S. DE MARIE

Department of Medical Microbiology and Infectious DiseasesErasmus University Medical CentreRotterdamThe Netherlands

JONAS DENECKE

Department of PediatricsUniversity of RostockRostockGermanydeneckj@uni-muenster.de

LEE A. DENSON

Division of Gastroenterology, Hepatology, and NutritionCincinnati Children’s Hospital Medical CenterCincinnati, OHUSAlee.denson@yale.edu

xxvi List of Contributors

GORDON DENT

Institute of Science and Technology in MedicineKeele UniversityKeele, StaffordshireUKg.dent@hfac.keele.ac.uk

FLAVIA DE PAULA

Human Genome Research CenterDepartment of Genetics and Evolutionary BiologyInstitute of BiosciencesUniversity of São PauloSão PauloBrazil

CHRISTOPHE DEPRE

Cardiovascular Research InstituteDepartment of Cell Biology and Molecular MedicineUMDNJNewark, NJUSAdeprech@umdnj.edu

MARCO C. DERUITER

Department of Anatomy and EmbryologyLeiden University Medical CenterLeidenThe NetherlandsM.C.de_Ruiter@lumc.nl

ELOISA DE SÁ MOREIRA

Human Genome Research CenterDepartment of Genetics and Evolutionary BiologyInstitute of BiosciencesUniversity of São PauloSão PauloBrazileloisamoreira@bol.com.br

MARCUS DESCHAUER

Department of NeurologyUniversity of Halle-WittenbergHalle/SaaleGermanymarcus.deschauer@medizin.uni-halle.de

ROBERT J. DESNICK

Department of Genetics and Genomic SciencesMount Sinai School of Medicine of New York UniversityNew York, NYUSArobert.desnick@mssm.edu

DARRYL C. DE VIVO

Colleen Giblin Laboratories for Pediatric Neurology ResearchDepartment of NeurologyColumbia UniversityNew York, NYUSAdcd1@columbia.edu

OLIVIER DEVUYST

Division of NephrologyUCL Medical SchoolBrusselsBelgiumolivier.devuyst@uclouvain.be

JEAN-CHARLES DEYBACH

Centre Français des PorphyriesINSERMHôpital Louis MourierColombesFrancejean-charles.deybach@nck.aphp.fr

ROEL DE WEGER

Department PathologyMolecular and Immuno-PathologyUniversity Medical Center UtrechtUtrechtThe Netherlandsr.deweger@umcutrecht.nl

NARANJAN S. DHALLA

St. Boniface General Hospital Research CentreUniversity of ManitobaWinnipeg, MBCanadansdhalla@sbrc.ca

ALESSIA DIANA

Dipartimento Clinico VeterinarioUniversità degli Studi di BolognaBolognaItalyadiana@vet.unibo.it

MARTIN DICHGANS

Department of NeurologyLudwig-Maximilians-University MunichMunichGermanymdichgan@brain.nefo.med.uni-muenchen.de

ARNE W. J. H. DIELIS

Laboratory for Clinical Thrombosis and HemostasisDepartments of Internal Medicine and BiochemistryMaastricht UniversityMaastrichtThe Netherlands

THOMAS DIERKS

Department of BiochemistryUniversity of BielefeldBielefeldGermanythomas.dierks@uni-bielefeld.de

WOLFGANG DIETMAIER

Institute of PathologyUniversity of RegensburgRegensburgGermanywolfgang.dietmaier@klinik.uni-regensburg.de

List of Contributors xxvii

M.CRISTINA DIGILIO

Medical GeneticsBambino Gesù HospitalRomeItalydigilio@opbg.net

GERHARD-PAUL DILLER

Adult Congenital Heart Centre and Centre for PulmonaryHypertension, Royal Brompton Hospital and the NationalHeart and Lung InstituteImperial CollegeLondonUKg.diller@imperial.ac.uk

HANER DIRESKENELI

Marmara University Medical SchoolIstanbulTurkeydireskeneli@superonline.com

ANGELA DISPENZIERI

Division of Hematology and Internal MedicineMayo Clinic and Mayo FoundationRochester, MNUSAdispenzieri.angela@mayo.edu

KLAUS DITTMANN

Division of Radiobiology & Molecular EnvironmentalResearchDepartment of Radiation OncologyEberhard-Karls UniversityTuebingenGermany

MARIA TERESA DIVIZIA

Laboratory of Molecular GeneticsG. Gaslini InstituteDepartment of PediatricsUniversity of GenovaGenovaItaly

MATTHEW B. DOBBS

Department of Orthopedic SurgeryWashington University School of MedicineSaint Louis, MOUSAmattdobbs@earthlink.net

MARKUS G. DONNER

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-UniversityDuesseldorfGermanyMarkus_Donner@yahoo.de

DAN DONOGHUE

Department of Chemistry and BiochemistryUniversity of CaliforniaSan Diego, CAUSAdjd@chem.ucsd.edu

OLIVIER DORSEUIL

Département de Génétique et DéveloppementInstitut CochinINSERM Université Paris DescartesParisFrancedorseuil@cochin.inserm.fr

ADEL DRISS

Winship Cancer InstituteEmory UniversityAtlanta, GAUSAdriss@ncnp.go.jp

MAARTEN R. DROST

Department of Movement SciencesMaastricht UniversityMaastrichtThe Netherlandsmaarten.drost@bw.unimaas.nl

OLIVIER DULAC

Department of Pediatric NeurologyHôpital Necker Enfants MaladesParisFranceolivier.dulac@nck.aphp.fr

REINHARD DUMMER

Department of DermatologyUniversity Hospital ZurichZurichSwitzerlanddummer@unizh.ch

MARIE-ESTELLE DUPONT

Département de Psychiatrie de l’Adolescentet du Jeune AdulteInstitut Mutualiste MonsourisParisFrancemarieestelledupont@gmail.com

MARINUS DURAN

Department of Clinical ChemistryUniversity of AmsterdamAmsterdamThe Netherlands

REYNA M. DURON

PIROOZ EGHTESADY

Division of Cardiothoracic SurgeryCincinnati Children’s Hospital Medical CenterCincinnati, OHUSApirooz.eghtesady@cchmc.org

xxviii List of Contributors

JAN EHRCHEN

GEORGE E. EHRLICH

University of Pennsylvania School of MedicinePhiladelphia, PAUSAg2e@mindspring.com

HENK EIJER

Orthopedic DepartmentSonnenhof ClinicBernSwitzerlandhenkeijer@sonnenhof.ch

CLAUS FERDINAND EISENBERGER

Department of General, Visceral and Pediatric SurgeryUniversity Hospital DuesseldorfHeinrich Heine UniversityDuesseldorfGermanyeisenberger@uni-duesseldorf.de

GRAEME EISENHOFER

Clinical Neurocardiology SectionNINDS, National Institutes of HealthBethesda, MDUSAgraeme.eisenhofer@uniklinikum-dresden.de

CHRISTIAN ELGER

Department of EpileptologyUniversity of BonnBonnGermanychristian.elger@ukb.uni-bonn.de

LEAH I. ELIZONDO

Interdepartmental Program in Cell and Molecular BiologyBaylor College of MedicineHouston, TXUSAleahe@bcm.edu

KAM-LUN ELLIS HON

Department of Pediatrics, Prince of Wales HospitalThe Chinese University of Hong KongHong Kong Special Administrative RegionPeople’s Republic of China

SARAH H. ELSEA

Departments of Pediatrics and Human GeneticsMedical College of Virginia CampusVirginia Commonwealth UniversityRichmond, VAUSAselsea@vcu.edu

HOLGER K. ELTZSCHIG

Mucosal Inflammation ProgramDepartment of Anesthesiology and Perioperative MedicineUniversity of Colorado Health Sciences CenterDenver, COUSAholger.eltzschig@uchsc.edu

MICHAEL EMBERGER

Department of DermatologyParacelsus Private Medical UniversitySalzburgAustria

FUMIO ENDO

Department of PediatricsKumamoto University Graduate School of Medical ScienceKumamotoJapan

MAYUMI ENDO

Department of MedicineTeine Keijinkai HospitalTeine, SapporoJapannephrogirl@gmail.com

ANDREW G. ENGEL

Department of NeurologyUCLA School of MedicineReed Neurologic Research CenterMayo ClinicRochester, MNUSAage@mayo.edu

JUTTA ENGEL

Institute of Physiology Department II and Tuebingen HearingResearch CenterTuebingenGermanyjutta.engel@uni-tuebingen.de

DAVID M. ENGMAN

Departments of Pathology and Microbiology-ImmunologyNorthwestern University Feinberg School of MedicineChicago, ILUSAd-engman@northwestern.edu

REGINA ENSENAUER

Dr. von Haunersches KinderspitalLudwig-Maximilians-UniversityMunichGermanyregina.ensenauer@med.uni-muenchen.de

GIULIANO ENZI

Department of Medical and Surgical SciencesUniversity of PadovaPadovaItaly

List of Contributors xxix

CHARLES J. EPSTEIN

Department of Neurology and Neurological SciencesStanford UniversityPalo Alto, CAUSACharles.epstin@ucsf.edu

ELARDUS ERASMUS

School of BiochemistryNorth-West UniversityPotchefstroomSouth Africabchee@puk.ac.za

ANDREAS ERHARDT

Department of Gastroenterology, Hepatology and InfectiousDiseasesHeinrich-Heine University of DuesseldorfDuesseldorfGermanyerhardt@uni-duesseldorf.de

SEHSUVAR ERTÜRK

Department of NephrologyAnkara University School of MedicineAnkaraTurkeyerturk@medicine.ankara.edu.tr

JOAQUIN ESCRIBANO

Pediatric Nephrology UnitHospital Universitari Sant JoanReusSpainjescribano@grupsagessa.com

MICHAEL ESCUDIER

Department of Oral MedicineKings College London Dental InstituteLondonUK

DANIELA ESER

Department of PsychiatryLudwig-Maximilian-University MunichMunichGermanyDaniela.Eser@med.uni-muenchen.de

MICHELLE M. ESTRELLA

Department of NephrologyJohns Hopkins University School of MedicineBaltimore, MDUSAmestrel1@jhmi.edu

MARKUS ESZLINGER

III. Medical DepartmentUniversity of LeipzigLeipzigGermanyMarkus.Eszlinger@medizin.uni-leipzig.de

ANALEE J. ETHEREDGE

Institute of Biosciences and TechnologyTexas A&M University System Health Science CenterHouston, TXUSA

AMOS ETZIONI

Department of ImmunologyMeyer Children’s HospitalHaifaIsraeletzioni@rambam.health.gov.il

CEM EVEREKLIOGLU

Department of OphthalmologyErciyes University Medical FacultyKayseriTurkeyevereklioglu@hotmail.com

DAVID B. EVERMAN

Greenwood Genetic CenterGreenwood, SCUSAdeverman@ggc.org

VINCENT EVERTS

Department. of Oral Cell BiologyAcademic Centre for DentistryUniversity of Amsterdam and VU University AmsterdamAmsterdamThe Netherlands

JUSTIN A. EZEKOWITZ

Division of CardiologyWalter Mackenzie CenterUniversity of AlbertaEdmonton, ABCanadaJustin.Ezekowitz@capitalhealth.ca

LYNETTE D. FAIRBANKS

Purine Research LaboratoryGuy’s HospitalLondonUKlynette.fairbanks@kcl.ac,uk

MUHAMMAD FAIYAZ-UL-HAQUE

Department of GeneticsThe Hospital for Sick ChildrenToronto, ONCanadamuhammad@genet.sickkids.on.ca

ALBERTO FALCHETTI

Regional Center for Hereditary Endocrine TumoursDepartment of Internal MedicineUniversity of FlorenceFlorenceItaly

xxx List of Contributors

RONNIE FASS

Southern Arizona VAHealth Care System and Arizona HealthSciences CenterUniversity of ArizonaTucson, AZUSARonnie.Fass@med.va.gov

PAVEL FENCL

Department of Nuclear MedicinePET CentreNa Homolce HospitalPragueCzech Republicfencl42@seznam.cz

PETER FERENCI

Department of Internal Medicine III, Gastroenterology andHepatologyVienna Medical UniversityViennaAustriapeter.ferenci@meduniwien.ac.at

ALBERTO FERLIN

Department of Histology, Microbiology and MedicalBiotechnologiesSection of Clinical Pathology and Centre for Male GameteCryopreservationUniversity of PadovaPadovaItalyalberto.felrin@unipd.it

ATTEYET-ALLA FETOUH YASSIN

Institute of Medical Microbiology, Immunology andParasitologyFriedrich-Wilhelms-UniversityBonnGermanyyassin@mibi03.meb.uni-bonn.de

GIORA Z. FEUERSTEIN

Wyeth ResearchDiscovery Translational MedicineCollegeville, PAUSAFEUERSG@wyeth.com

BÄRBEL FIEDLER

University of MuensterChildren’s HospitalMuensterGermany

JOSHUA FIERER

Division of Infectious Diseases, Department of MedicineUniversity of California at San DiegoSan Diego, CAUSAjfierer@ucsd.edu

DOMINIQUE FIGARELLA-BRANGER

Laboratoire de Biopathologie Nerveuse et MusculaireFaculté de Médecine de MarseilleMarseilleFranceDominique.Figarella-Branger@medecine.univ-mrs.fr

VOLKER FINGERLE

Bavarian Health and Food Safety AuthorityMunichGermanyFingerle@m3401.mpk.med.uni-muenchen.de

JOHN W. FINLEY

USDA ARSGrand Forks Human Nutrition Research CenterGrand Forks, NDUSAfinleyjz@amtodd.com

RICHARD H. FINNELL

Institute of Biosciences and TechnologyTexas A&M University System Health Science CenterHouston, TXUSA

JOSEF FINSTERER

KA RudolfstiftungViennaAustriafipaps@yahoo.de

ANTONELLA FIORAVANTI

Unit of RheumatologyDepartment of Clinical Medicine and ImmunologicalSciencesUniversity of SienaSienaItalyfioravanti7@virgilio.it

TOBIAS W. FISCHER

Department of Dermatology, Venerology and AllergyUniversity Hospital Schleswig-HolsteinUniversity of LuebeckLuebeckGermanyTobias.Fischer@uk-sh.de

AVI FISCHER

Division of Cardiac Electrophysiology and ArrhythmiaServiceMount Sinai Hospital and School of MedicineNew York, NYUSA

M. DOMINIK FISCHER

Centre for OphthalmologyInstitute for Ophthalmic ResearchUniversity TuebingenTuebingenGermany

List of Contributors xxxi

PAMELA FISCHER POSOVZSKY

Division of Pediatric Endocrinology and DiabetesUniversity of UlmUlmGermany

MONIKA FLECKENSTEIN

Department of OphthalmologyUniversity of BonnBonnGermany

THOMAS A. FLEISHER

Department of Laboratory MedicineClinical CenterNational Institute of Health, DHHSBethesda, MDUSATFleishe@cc.nih.gov

JUSTINE H. S. FONG

Asian Medical CentreUniversity of Calgary Medical ClinicCalgary, ABCanada

BERTRAND FONTAINE

INSERMUniversité Pierre et Marie Curie, UMRParisFrance

CARLO FORESTA

Department of Histology, Microbiology and MedicalBiotechnologiesSection of Clinical Pathology and Centre for Male GameteCryopreservationUniversity of PadovaPadovaItaly

DOUGLAS FORREST

NIDDK, National Institutes of HealthBethesda, MDUSAforrestd@niddk.nih.gov

IRMGARD FÖRSTER

Institut für Umweltmedizinische Forschung gGmbHUniversity of DuesseldorfDuesseldorfGermanyirmgard.foerster@uni-duesseldorf.de

FEDERICO FRACASSI

Dipartimento Clinico VeterinarioUniversità degli Studi di BolognaBolognaItalyffracassi@vet.unibo.it

JEAN FRANCIS

Department of Internal MedicineHospital of St. RaphaelNew Haven, CTUSA

DIEGO FRANCO

Department of Experimental BiologyUniversity of JaenJaenSpaindfranco@ujaen.es

JORGE FRANK

MUCMDUniversity Medical Center MaastrichtMaastrichtThe Netherlandsjorgefrank@yahoo.com

KAREL FRASCH

Department of Psychiatry IIUniversity of UlmGuenzburgGermanyKarel.Frasch@bkh-guenzburg.de

KENDALL S. FRAZIER

Safety AssessmentGlaxoSmithKlineKing of Prussia, PAUSAkendall.s.frazier@gsk.com

ROGER A. FREEDMAN

Division of CardiologyUniversity of UtahSalt Lake City, UTUSAroger.freedman@hsc.utah.edu

BARRY I. FREEDMAN

Internal Medicine, Section on NephrologyWake Forest University School of MedicineWinston-Salem, NCUSAbfreedma@wfubmc.edu

NORBERT FREY

Department of CardiologyUniversity of HeidelbergHeidelbergGermanynorbert.frey@med.uni-heidelberg.de

GÉRARD FRIEDLANDER

INSERMUniversity of ParisParisFranceGérard.Friedlander@bichat.inserm.fr

xxxii List of Contributors

THOMAS FRIELING

Medical Clinic IIHelios Klinikum KrefeldKrefeldGermanyto frieling@Klinikum-Krefeld.de

ANDREAS FRITSCHE

Department of Internal MedicineDivision of Endocrinology, Angiology, Nephrology andClinical ChemistryUniversity Hospital TuebingenTuebingenGermany

STEPHAN J. FROEHLICH

Eye ClinicLudwig-Maximilians-University MunichMunichGermanyStephan.Froehlich@med.uni-muenchen.de

EDWARD D. FROHLICH

Ochsner Clinic FoundationNew Orleans, LAUSA

MICHAEL FROMM

Clinical PhysiologyCampus Benjamin FranklinCharitéBerlinGermanymichael.fromm@charite.de

PATRICK FROSK

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, MBCanadapfrosk@gmail.com

DIETMAR FUCHS

Department of Biological ChemistryBiocenterMedical-University of InnsbruckInnsbruckAustriaDietmar.Fuchs@i-med.ac.at

ARNO FUCHSHUBER

University Children’s HospitalFreiburgGermanyarno.fuchshuber@t-online.de

TOSHIRO FUJITA

Department of Nephrology and EndocrinologyUniversity of Tokyo Graduate School of MedicineTokyoJapanfujita-dis@h.u-tokyo.ac.jp

MASAFUMI FUKAGAWA

Division of Nephrology & Kidney CenterKobe University School of MedicineKobeJapanfukagawa@med.kobe-u.ac.jp

KEIICHI FUKUDA

Department of Regenerative Medicine and Advanced CardiacTherapeuticsKeio University School of MedicineTokyoJapankfukuda@sc.itc.keio.ac.jp

GÉRARD GACON

Département de Génétique et DéveloppementInstitut CochinINSERMUniversité Paris DescartesParisFrancegacon@cochin.inserm.fr

WILLIAM A. GAHL

Section of Human Biochemical Genetics, Heritable DisordersBranchNational Human Genome Research InstituteBethesda, MDUSAbgahl@helix.nih.gov

MARCIAL FRANCIS GALERA

Faculdade de MedicinaUniversidade de CuiabáCuiabáBrazil

NATALIE GALL

Department of Dermatology and AllergologyUniversity of UlmUlmGermany

CARLOS GALLIANI

Department of PathologyCook Children’s HospitalFort Worth, TXUSAcgalliani@cookchildrens.org

JÜRGEN GALLINAT

Department of Psychiatry and PsychotherapyCharité BerlinBerlinGermanyjuergen.gallinat@charite.de

VICTOR M. GARCA NIETO

Pediatric Nephrology Unit, Hospital Ntra.Sra. de CandelariaSanta Cruz de TenerifeSpain

List of Contributors xxxiii

ANGELS GARCÍA-CAZORLA

Neurology DepartmentHospital Sant Joan de DéuBarcelonaSpainagarcia@hsjdbcn.org

HELENA M. GARDINER

Institute of Reproductive and Developmental BiologyFaculty of MedicineImperial CollegeQueen Charlotte’s and Chelsea HospitalLondonUKhelena.gardiner@imperial.ac.uk

SAURABH K. GARG

Department of Environmental and Biomolecular SystemsOGI School of Science and EngineeringOregon Health and Science UniversityBeaverton, ORUSA

GAETANO GARGIULO

Pediatric Cardiac Surgery UnitS. Orsola-Malpighi HospitalBolognaItaly

STANLEY M. GARTLER

Department of MedicineDivision of Medical GeneticsUniversity of WashingtonSeattle, WAUSA

THOMAS GASSER

Department of Neurodegnerative DiseasesHertie-Institute for Clinical Brain ResearchCenter of NeurologyTuebingenGermanythomas.gasser@med.uni-tuebingen.de

ZORAN GATALICA

Department of PathologyCreighton University School of MedicineOmaha, NEUSAzgatalica@pathology.creighton.edu

NORBERT GATTERMANN

Department of Hematology, Oncology and ClinicalImmunologyHeinrich-Heine-UniversityDuesseldorfGermanygattermann@med.uni-duesseldorf.de

MICHAEL A. GATZOULIS

Adult Congenital Heart Disease UnitRoyal Brompton and Harefield NHS TrustLondonUKm.gatzoulis@rbh.nthames.nhs.uk

MICHEL GAUTIER

Laboratoire de MicrobiologieUMR STLO, INRARennesFrancemichel.gautier@agrocampus-rennes.fr

HANS-JÜRGEN GDYNIA

Department of NeurologyUniversity of UlmUlmGermanyhans-juergen.gdynia@uni-ulm.de

KAREL GEBOES

Department of PathologyUniversity Hospital LeuvenLeuvenBelgiumkarel.geboes@uz.kuleuven.ac.be

URBAN W. GEISTHOFF

Department of OtorhinolaryngologyHospitals of the City of CologneHNO HolweideCologneGermanygeisthoffu@kliniken-koeln.de

DAVID S. GELLER

Section of NephrologyYale University School of MedicineNew Haven, CTUSAdavid.geller@yale.edu

DAVID GENEVIEVE

Département de GénétiqueINSERMHôpital Necker Enfants-MaladesParisFrance

MICHAEL T. GERAGHTY

Children’s Hospital of Eastern OntarioOttawa, ONCanadamgeraghty@cheo.on.ca

IVOR L. GERBER

Department of CardiologyGreen Lane Cardiovascular ServiceAuckland City HospitalAuckland, AUKNew ZealandIvorG@adhb.govt.nz

VICTOR E. A. GERDES

Department of Vascular MedicineAmsterdam Vascular Medicine GroupAcademic Medical CenterAmsterdamThe NetherlandsV.E.Gerdes@amc.uva.nl

xxxiv List of Contributors

M. ERIC GERSHWIN

Division of Internal MedicineDepartment of Clinical Sciences ‘Luigi Sacco’University of MilanMilanItalymegershwin@ucdavis.edu

CRISTINA GERVASINI

Division of Medical GeneticsSan Paolo School of MedicineUniversity of MilanMilanItaly

TAL GEVA

Department of CardiologyChildren’s HospitalBoston, MAUSAtal.geva@cardio.chboston.org

ISMAT GHANEM

Department of Orthopedic SurgeryHotel-Dieu de France HospitalSaint Joseph UniversityBeirutLebanonghanem.i@dm.net.lb

PHILIP F. GIAMPIETRO

Department of Medical Genetic ServicesMarshfield ClinicMarshfield, WIUSAgiampietro.philip@marshfieldclinic.org

VOLKMAR GIESELMANN

Institute for Physiological ChemistryUniversity BonnBonnGermanygieselmann@institute.physiochem.uni-bonn.de

RICHARD E. GILBERT

Keenan Research CentreLi Ka Shing Knowledge InstituteSt. Michael’s Hospital and University of TorontoToronto, ONCanadarichard.gilbert@utoronto.ca

JAMES M. GILCHRIST

Department of Clinical NeurosciencesBrown Medical SchoolProvidence, RIUSAjames_gilchrist@brown.edu

PERE GINÈS

University of BarcelonaIDIBAPSBarcelonaSpaingines@ub.edu

ROBERTO GIORDA

Molecular Biology LaboratoryE. Medea Scientific InstituteBosisio Parini, LeccoItaly

SANTHOSH GIRIRAJAN

Departments of Pediatrics and Human GeneticsMedical College of Virginia CampusVirginia Commonwealth UniversityRichmond, VAUSA

GIAMPIERO GIROLOMONI

Department of Biomedical and Surgical SciencesSection of DermatologyUniversity of VeronaVeronaItalygiampiero.girolomoni@univr.it

ADRIANA C. GITTENBERGER-DE GROOT

Department of Anatomy and EmbryologyLeiden University Medical CenterLeidenThe NetherlandsA.C.Gittenberger-de_Groot@lumc.nl

BENJAMIN GLASER

Endocrinology and Metabolism ServiceInternal Medicine DivisionHebrew University-Hadassah Medical SchoolJerusalemIsraelIsraelbeng@cc.huji.ac.il

PETER J. GOADSBY

Headache GroupDepartment of NeurologyUniversity of CaliforniaSan Francisco, CAUSApeterg@ion.ucl.ac.uk

HANS H. GOEBEL

Department of NeuropathologyJohannes-Gutenberg University Medical CenterMainzGermanygoebel@neuropatho.klinik.uni-mainz.de

SERGIJ GOERDT

Department of Dermatalogy, Venereology and AllergologyUniversity Medical Centre MannheimRuprechts-Karls-University of HeidelbergMannheimGermanysergij.goerdt@haut.ma.uni-heidelberg.de

ERIC GOFFIN

Departments of Nephrology and RadiologyCliniques Universitaires Saint-LucBrusselsBelgiumGoffin@mint.ucl.ac.be

List of Contributors xxxv

LEV G. GOLDFARB

Department of Health and Human ServicesNational Institutes of HealthBethesda, MDUSAGoldfarbL@ninds.nih.gov

ELIZABETH GOLDMUNTZ

Division of CardiologyChildren’s Hospital of PhiladelphiaPhiladelphia, PAUSAgoldmuntz@email.chop.edu

NETA GOLDSCHMIDT

Hematology DepartmentHadassah – Hebrew University Medical CentreJerusalemIsraelnetagold@yahoo.com

DANIEL R. GOLDSTEIN

Department of Internal MedicineSection of Cardiovascular MedicineYale University School of MedicineNew Haven, CTUSAdaniel.goldstein@yale.edu

RICARDO S. GOMEZ

Departments of Pharmacology and Oral PathologyUniversidade Federal de Minas GeraisBelo HorizonteBrazil

PHILLIP GORDEN

National Institute of Diabetes and Digestive and KidneyDiseasesNational Institutes of HealthBethesda, MDUSAPhillipG@intra.niddk.nih.gov

GEORG GOSZTONYI

Institute of NeuropathologyCharité – University Medicine BerlinBerlinGermanygegos@zedat.fu-berlin.de

YU-ICHI GOTO

Department of Mental Retardation and Birth Defect ResearchNational Center of Neurology and PsychiatryKodaira, TokyoJapangoto@ncnp.go.jp

ROBERT W. GOTSHALL

Health and Exercise ScienceColorado State UniversityFort Collins, COUSAgotshall@cahs.colostate.edu

HULYA ILIKSU GOZU

Section of Endocrinology and MetabolismDr. Lutfi Kirdar Kartal Education and Research HospitalIstanbulTurkeyhulyagozu@yahoo.com

JÜRGEN GRABBE

Department of DermatologyMedical University of LuebeckLuebeckGermanygrabbe@medinf.mu-luebeck.de

STEPHAN GRABBE

Department of DermatologyJohannes-Gutenberg-University HospitalMainzGermanystephan.grabbe@medizin.uni-essen.de

DONATELLA GRANCHI

Laboratorio di Fisiopatologia degli Impianti OrtopediciIstituto Ortopedico RizzoliBolognaItalydonatella.granchi@ior.it

BERNARD GRANDCHAMP

Service de Biochimie BHôpital BichatParisFrancebernard.grandchamp@bch.ap-hop-paris.fr

ALEXEI GRATCHEV

Department of Dermatalogy, Venereology and AllergologyUniversity Medical Centre MannheimRuprechts-Karls-University of HeidelbergMannheimGermany

TRACEY D. GRAVES

Centre for Neuromuscular DiseaseNational Hospital for Neurology and NeurosurgeryDepartment of Molecular NeuroscienceInstitute of NeurologyLondonUK

CHERYL R. GREENBERG

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, MBCanadacgreenberg@exchange.hsc.mb.ca

ALMUT GRENZ

Mucosal Inflammation ProgramDepartment of Anesthesiology and Perioperative MedicineUniversity of Colorado Health Sciences CenterDenver, COUSA

xxxvi List of Contributors

OLAV A. GRESSNER

Institute of Clinical Chemistry and PathobiochemistryBWTH University HospitalAachenGermanygressner@rwth-aachen.de

BODO GRIMBACHER

Department of Immunology and Molecular PathologyRoyal Free Hospital and University College Medical SchoolLondonUKbgrimbac@medsch.ucl.ac.uk

HERMANN-JOSEF GRÖNE

Department of Cellular and Molecular PathologyGerman Cancer Research CenterUniversity of HeidelbergHeidelbergGermanyh.-j.groene@dkfz-heidelberg.de

ROBERT F. GROFF IVDepartment of NeurosurgeryUniversity of PennsylvaniaPhiladelphia, PAUSA

TILMAN GRUNE

Institute of Biological Chemistry and NutritionBiofunctionality and Safety of FoodUniversity HohenheimStuttgartGermanyTilman.Grune@uni-hohenheim.de

FABRIZIO GUARNERI

Institute of DermatologyPoliclinico UniversitarioMessinaItaly

IRENE GUERRINI

Molecular Psychiatry LaboratoryWindeyer Institute of Medical SciencesDepartment of Psychiatry and Behavioural SciencesRoyal Free and University College LondonLondon Medical SchoolLondonUKi.guerrini@ucl.ac.uk

RENZO GUERRINI

Pediatric Neurology and Neurogenetics Unit and LaboratoriesChildren’s Hospital A.MeyerUniversity of FlorenceFlorenceItalyrenzo.guerrini@inpe.unipi.it

JEAN-MARC GUETTIER

National Institute of Diabetes and Digestive and KidneyDiseasesNational Institutes of HealthBethesda, MDUSAguettierj@mail.nih.gov

MÓNICA GUEVARA

University of BarcelonaIDIBAPSBarcelonaSpain

OLIVIER GUILBAUD

Université René DescartesParisFrance

PER GULDBERG

Danish Center for Human Genome ResearchJohn F. Kennedy InstituteGlostrupDenmark

ORLANDO GUNTINAS-LICHIUS

Department of OtorhinolaryngologyFriedrich-Schiller-UniversityJenaGermanyorlando.guntinas@med.uni-jena.de

SEFIK GURAN

Department of Medical BiologyGulhane Medical AcademyAnkaraTurkeysefguran@yahoo.com

PAVEL GUREVICH

Laboratory of Experimental MedicineRehovotIsrael

HUGH M. GURLING

Molecular Psychiatry LaboratoryWindeyer Institute of Medical SciencesDepartment of Psychiatry and Behavioural SciencesRoyal Free and University College LondonLondon Medical SchoolLondonUKh.gurling@ucl.ac.uk

ANGELIKA GUTENBERG

Department for NeurosurgeryGeorg-August-UniversityGoettingenGermanyagutenb1@jhmi.edu

List of Contributors xxxvii

FLEMMING GÜTTLER

Danish Center for Human Genome ResearchJohn F. Kennedy InstituteGlostrupDenmarkflg@dadlnet.dk

YENER GÜZELCAN

Reinier van Arkel Group/Jeroen Bosch HospitalDepartment of Psychiatry‘s-HertogenboschThe Netherlandsy.guzelcan@RvAgroep.nl

BIRGIT HAACK

Department of Molecular PathologyUniversity Hospital of TuebingenTuebingenGermanybirgit.haack@med.uni-tuebingen.de

JOOST HAAN

Department of NeurologyRijnland Hospital/Leiden University Medical CentreLeidenThe NetherlandsJ.Haan@rijnland.nl

STEPHAN L. HAAS

Department of Medicine II (Gastroenterology, Hepatologyand Infectious Diseases)University Hospital of Heidelberg at MannheimMannheimGermanystephan.haas@med.ma.uni-heidelberg.de

PIRMIN HABERMEHL

Pediatric University HospitalJohannes-Gutenberg UniversityMainzGermanyPirmin.Habermehl@uni-mainz.de

JOHANNES HÄBERLE

University Hospital of MuensterMuensterGermanyhaeberle.johannes@ukmuenster.de

PETER HACKMAN

Department of Medical GeneticsVaasa Central HospitalUniversity of HelsinkiHelsinkiFinland

GEORGIOS M. HADJIGEORGIOU

Department of Neurology, School of MedicineUniversity of ThessalyLarissaGreecegmhadji@med.uth.gr

CLAUDIA HAFERLACH

Munich Leukemia Laboratory (MLL)MunichGermany

TORSTEN HAFERLACH

SAMER EL HAGE

Department of Orthopedic SurgeryHotel-Dieu de France HospitalSaint Joseph UniversityBeirutLebanon

ANDREAS HAHN

Department of Pediatric NeurologyChildren’s Medical CenterUniversity of Giessen and MarburgGiessenGermanyAndreas.Hahn@paediat.med.uni-giessen.de

ANGELIKA F. HAHN

Department of NeurologyUniversity of Western OntarioLondon Health Science CentreLondon, ONCanadaAngelika.Hahn@lhsc.on.ca

AHMET MESRUR HALEFOĞLU

Department of RadiologyŞişli Etfal Training and Research HospitalŞişli, İstanbulTurkeyhalefoglu@hotmail.com

TAKAHIRO HAMADA

Department of DermatologyKurume University School of MedicineKurume, FukuokaJapanhamataka@med.kurume-u.ac.jp

RIIKKA H. HÄMÄLÄINEN

Folkhälsan Institute of Genetics and Neuroscience CenterUniversity of HelsinkiHelsinkiFinlandriikka.h.hamalainen@helsinki.fi

CHRISTIAN HAMEL

CHU MontpellierCentre of Reference for Genetic Sensory DiseasesMontpellierFrancehamel@montp.inserm.fr

xxxviii List of Contributors

LENNART HAMMARSTÖM

Karolinska InstituteDepartment of Laboratory MedicineKarolinska University Hospital HuddingeStockholmSwedenlennart.hammarstrom@ki.se

C. OLIVER HANEMANN

Clinical NeurobiologyInstitute of Biomedical and Clinical SciencePeninsula Medical SchoolTamar Science Park, PlymouthUKoliver.hanemann@pms.ac.uk

MICHAEL G. HANNA

Centre for Neuromuscular DiseaseNational Hospital for Neurology and NeurosurgeryDepartment of Molecular NeuroscienceInstitute of NeurologyLondonUKm.hanna@ion.ucl.ac.uk

R. SCOTT HANSEN

Department of Genome SciencesUniversity of WashingtonSeattle, WAUSA

ANN-SOFIE HANSSON

Department of Clinical ImmunologySahlgrenska University HospitalGothenburgSwedenann-sofie.hansson@vregion.se

NAOKI HARADA

Kyusyu Medical Science Nagasaki LaboratoryNagasakiJapan

RICHARD W. HARPER

MonashHeartMonash Medical CentreMelbourne, VICAustraliarichard.harper@med.monash.edu.au

MATTHEW HARRIES

Dermatology CentreUniversity of ManchesterHope HospitalManchesterUK

JEFFREY P. HARRIS

Department of Otolaryngology/Head and Neck SurgeryUniversity of CaliforniaSan Diego School of MedicineLa Jolla, CAUSA

JAMES C. HARRIS

Johns Hopkins University Medical SchoolBaltimore, MDUSA

THOMAS C. HART

National Institute of Dental and Cranio-Facial ResearchNational Institutes of HealthBethesda, MDUSA

INGA HARTING

Department of NeuroradiologyUniversity of Heidelberg Medical CentreHeidelbergGermanyInga.Harting@med.uni-heidelberg.de

ARNDT HARTMANN

Department of PathologyUniversity ErlangenErlangenGermanyarndt.hartmann@uk-erlangen.de

BRANDY J. HARVEY

Department of Cell Biology and BiochemistryTexas Tech University Health Sciences CenterLubbock, TXUSABrandy Harvey@ttuhsc.edu

GERD HASENFUSS

HerzzentrumGeorg-August-University GoettingenGoettingenGermanyrfaber@med.uni-goettingen.de

AKMAL HASSAN

Clinic of DermatologyHeinrich-Heine-UniversityDuesseldorfGermany

SYED HASSAN

Elipsis BiotherapeuticsToronto, ONCanadahzaidi@ellipsisbiotherapeutics.com

NAN HATCH

Department of OrthodonticsUniversity of MichiganAnn Arbor, MIUSAnhatch@umich.edu

DIETER HÄUSSINGER

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-UniversityDuesseldorfGermanyhaeussin@uni-duesseldorf.de

List of Contributors xxxix

THOMAS HAWRANEK

Department of DermatologyParacelsus Private Medical UniversitySalzburgAustria

RITVA HÄYRINEN-IMMONEN

Vantaa Dental ClinicHelsinkiFinlandritva.hayrinen-immonen@vantaa.fi

S. DIANE HAYWARD

Viral Oncology ProgramSidney Kimmel Cancer CenterJohns Hopkins UniversityBaltimore, MDUSAdhayward@jhmi.edu

DENIS J. HEADON

University of ManchesterManchesterUKdenis.headon@manchester.ac.uk

HARDALLY R. HEGDE

Department of PediatricsAlberta Children’s HospitalThe University of CalgaryCalgary, ABCanada

RICHARD G. HEGELE

Department of Pathology and Laboratory MedicineUniversity of British ColumbiaVancouver, BCCanadarhegele@mrl.ubc.ca

ULRICH HEININGER

University Children’s HospitalUKBBBaselSwitzerlandUlrich.Heininger@unibas.ch

TOBIAS HEINTGES

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-University DuesseldorfDuesseldorfGermanyheintges@uni-duesseldorf.de

MIEP HELFRICH

Bone Research ProgrammeSchool of Medicine and DentistryInstitute of Medical SciencesForesterhill, AberdeenUKmmd173@abdn.ac.uk

JAN HELLEMANS

Center for Medical GeneticsGhent University HospitalGhentBelgiumJan.Hellemans@UGent.be

GEOFFREY N. HENDY

Calcium Research Laboratory, Royal Victoria Hospital, andDepartments of Medicine, Physiology and Human GeneticsMcGill UniversityMontreal, QCCanadageoffrey.hendy@mcgill.ca

HARTMUT HENGEL

Institute for VirologyHeinrich-Heine-UniversityDuesseldorfGermanyHartmut.Hengel@uni-duesseldorf.de

MARKUS HENGSTSCHLÄGER

Medical Genetics, Obstetrics and GynecologyMedical University of ViennaViennaAustriamarkus.hengstschlaeger@meduniwien.ac.at

RAOUL C. M. HENNEKAM

Department of PediatricsAcademic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlandsr.c.hennekam@amc.uva.nl

WERNER J. HEPPT

Department of OtorhinolaryngologyKlinikum KarlsruheKarlsruheGermanywerner.heppt@klinikum-karlsruhe.com

DAVID N. HERRMANN

Departments of Neurology and PathologyUniversity of RochesterRochester, NYUSADavid_Herrmann@urmc.rochester.edu

MICHAEL S. HERSHFIELD

Department of BiochemistryDuke University Medical CenterDurham, NCUSAmsh@biochem.duke.edu

ALBRECHT HESSE

Department of UrologyUniversity of BonnBonnGermanyhesse@uni-bonn.de

xl List of Contributors

REINOUT P. HESSELINK

PharmacellMaastrichtThe Netherlandsr.p.hesselink@tue.nl

PETER HEUTINK

Department of Clinical GeneticsVU University Medical CenterAmsterdamThe NetherlandsP.Heutink@vumc.nl

WHITNEY A. HIGH

Departments of Dermatology and PathologyUniversity of Colorado School of MedicineDenver, COUSAwhitney.high@uchsc.edu

FRIEDHELM HILDEBRANDT

Department of PediatricsUniversity of MichiganAnn Arbor, MIUSAfhilde@umich.edu

DENISE S. HILL

Interdisciplinary Faculty of ToxicologyTexas A&M UniversityCollege Station, TXUSA

JAN-LUUK HILLEBRANDS

Department of Cell Biology, Immunology SectionUniversity Medical Center GroningenGroningenThe Netherlandsj.l.hillebrands@med.umcg.nl

HELMUT HINTNER

Department of DermatologyParacelsus Private Medical UniversitySalzburgAustriah.hintner@salk.at

SHIRLEY HODGSON

Department of Cancer GeneticsSt. George’s HospitalUniversity of LondonUMDSLondonUKs.hodgson@umds.ac.uk

ERIC P. HOFFMAN

Research Center for Genetic MedicineChildren’s National Medical CenterGeorge Washington UniversityWashington, DCUSAehoffman@cnmcresearch.org

MICHAEL M. HOFFMANN

Division of Clinical ChemistryUniversity Hospital FreiburgFreiburg i. Br.Germanymichael.marcus.hoffmann@uniklinik-freiburg.de

SILKE HOFMANN

Department of DermatologyUniversity Medical CenterFreiburgGermanysilke.hofmann@uniklinik-freiburg.de

MARY H. HOHENHAUS

Department of MedicineBrown University/The Miriam HospitalProvidence, RIUSAmhohenhaus@lifespan.org

BERND HOHENSTEIN

Department of Nephrology and HypertensionUniversity Erlangen-NurembergErlangenGermany

HAZEL M. HOLDEN

Department of BiochemistryUniversity of WisconsinMadison, WIUSAhazel_holden@biochem.wisc.edu

STEPHEN T. HOLGATE

Southampton General HospitalUniversity of SouthamptonSouthamptonUKs.holgate@soton.ac.uk

STEVEN HOLLAND

NIH Clinical CenterBethesda, MAUSA

ARE MARTIN HOLM

Section of Clinical Immunology and Infectious DiseasesMedical DepartmentRikshospitalet University HospitalOsloNorwaya.m.holm@medisin.uio.no

IAN HOLT

MRC-Dunn Human Nutrition UnitCambridgeUKih@mrc-dunn.cam.ac.uk

FRANK G. HOLZ

Department of OphthalmologyUniversity of BonnBonnGermany

List of Contributors xli

MARINELLA HOLZHAUSEN

Department of Pharmacology and TherapeuticsThe University of CalgaryCalgary, ABCanadaholzhaus@ucalgary.ca

KAM-LUN ELLIS HON

Department of PediatricsPrince of Wales HospitalHong Kong Special Administrative RegionPeople’s Republic of China

AKIRA HONDA

Center for Collaborative ResearchTokyo Medical UniversityKasumigaura HospitalIbarakiJapanAkiraHonda@aol.com

TAKAYUKI HONDA

Department of Laboratory MedicineShinshu University School of MedicineMatsumotoJapanthondat@hsp.md.shinshu-u.ac.jp

BERND HOPPE

University Children’s HospitalUniversity of CologneCologneGermanybernd.Hoppe@uk-koeln.de

SEVAN HOPYAN

Hospital for Sick Children, Division of Orthopedics andProgram in Developmental and Stem Cell BiologyUniversity of TorontoToronto, ONCanadas.hopyan@utoronto.ca

JULIA HORN

Division of Rheumatology and Clinical ImmunologyUniversity Hospital FreiburgFreiburgGermanyhorn@medizin.ukl.uni-freiburg.de

JASON H. HUANG

Department of NeurosurgeryUniversity of PennsylvaniaPhiladelphia, PAUSAjason.huang@uphs.upenn.edu

TING-TING HUANG

Department of PediatricsUniversity of CaliforniaSan Francisco, CAUSA

CHRISTIAN P. M. HUGO

Department of Nephrology and HypertensionUniversity Erlangen-NurembergErlangenGermanychristian.hugo@rzmail.uni-erlangen.de

WILGARD HUNGER-DATHE

Department of Internal Medicine IIIUniversity Hospital JenaJenaGermany

NEIL HUNTER

Institute of Dental ResearchWestmead Millennium Institute and Westmead Centre forOral HealthWestmead HospitalWestmead, NSWAustralianhunter@dental.wsahs.nsw.gov.au

PETER HUPPKE

Department of Pediatric NeurologyGeorg-August UniversityGoettingenGermanyphuppke@med.uni-goettingen.de

KHALID HUSSAIN

Great Ormond Street Children’s Hospital NHS Trust and theInstitute of Child HealthUnit of BEMUniversity CollegeLondonUKK.Hussain@ich.ucl.ac.uk

MARY REDMOND HUTSON

Department of Pediatrics, NPRIDuke UniversityDurham, NCUSAmhutson@duke.edu

JAMES HYLAND

Department of PathologyCenter for Gene TherapyTulane University Health Sciences CenterNew Orleans, LAUSAjhyland@tulane.edu

MOFID IBRAHEIM

Department of Obstetrics and GynecologyBasildon University HospitalBasildonUKmofidibraheim@yahoo.co.uk

xlii List of Contributors

OMAR A. IBRAHIMI

Department of DermatologyHarvard Medical SchoolBoston, MAUSAOmar.ibrahimi@gmail.com

HIROSHI ICHINOSE

Department of Life ScienceGraduate School of Bioscience and BiotechnologyTokyo Institute of TechnologyYokohamaJapanhichinos@bio.titech.ac.jp

AMAJ IKOMI

Department of Obstetrics and GynaecologyBasildon University HospitalBasildonUK

MASSIMO IMAZIO

Cardiology DepartmentMaria Vittoria HospitalTurinItalymassimo_imazio@yahoo.it

KEI INAI

Department of Pediatric CardiologyTokyo Women`s Medical UnivesityTokyoJapanSatokunshooto01@yahoo.co.jp

ADIBA ISADepartment of Clinical ImmunologyCenter for Stem Cell TreatmentOdense University HospitalUniversity of Southern DenmarkOdenseDenmarkadiba.isa@cmm.ki.se

WULF ITOHeartcenter, CardiologyUniversity Hospital Hamburg-EppendorfHamburgGermany

EIJI ITOI

Department of Orthopedic SurgeryTohoku University School of MedicineSendaiJapanitoi@med.akita-u.ac.jp

SUDHA K. IYENGAR

Epidemiology and BiostatisticsOphthalmology and GeneticsCase Western Reserve UniversityCleveland, OHUSAski@case.edu

GIRIS JACOB

Recanati Autonomic Dysfunction CenterRambam Medical CenterHaifa Israel and the Autonomic Dysfunction CenterVanderbilt UniversityNashville, TNUSA

NICHOLAS A. JACQUES

Institute of Dental ResearchWestmead Millennium Institute and Westmead Centre forOral HealthWestmead HospitalWestmead, NSWAustralianjacques@dental.wsahs.nsw.gov.au

JAAK JAEKEN

Department of PediatricsCenter for Metabolic DiseaseUniversity of LeuvenLeuvenBelgiumjaak.jaeken@uz.kuleuven.ac.be

MARKUS JÄGER

Department of Psychiatry IIUniversity of UlmGuenzburgGermany

MICHAELA JAKSCH

Freiburg Medical LaboratoryMiddle East LLCDubaiUAEjaksch@fml-dubai.com

HANNU JALANKO

Hospital for Children and AdolescentsUniversity of HelsinkiHelsinkiFinlandhannu.jalanko@hus.fi

ANDREAS JANECKE

Division of Clinical GeneticsInnsbruck Medical UniversityInnsbruckAustriaAndreas.Janecke@i-med.ac.at

PETER L. M. JANSEN

Department of Gastroenterology and HepatologyAcademic Medical CenterAmsterdamThe NetherlandsP.L.Jansen@amc.uva.nl

KATRIEN JANSSENS

Department of Medical GeneticsUniversity of AntwerpAntwerpBelgium

List of Contributors xliii

MICHAEL A. JANTZ

Division of Pulmonary and Critical Care MedicineUniversity of FloridaGainesville, FLUSAjantzma@medicine.ufl.edu

JEAN-MICHEL ROZET

Unité de Recherches Génétique et Epigénétique des MaladiesMétaboliques, Neurosensorielles et du DéveloppementINSERMHôpital des Enfants MaladesParisFrancerozet@necker.fr

WILLIAM JEFFCOATE

Foot Ulcer Trials UnitDepartment of Diabetes and EndocrinologyCity HospitalNottinghamUKWilliam.Jeffcoate@nuh.nhs.uk

VIVEKANAND JHA

Department of NephrologyPostgraduate Institute of Medical Education and ResearchChandigarhIndiavjha@pginephro.org

RUI-CHENG JIDepartment of Anatomy, Biology and MedicineOita UniversityOitaJapanji@med.oita-u.ac.jp

QIUJIE JIANG

Department of Dermatology and Cutaneous BiologyJefferson Medical CollagePhiladelphia, PAUSAQiujie.x.Jiang@jefferson.edu

SERGIO A. JIMENEZ

Jefferson Institute of Molecular Medicine and Division ofConnective Tissue DiseasesDepartment of Dermatology and Cutaneous BiologyThomas Jefferson UniversityPhiladelphia, PAUSAsergio.jimenez@jefferson.edu

LING JING

Institute of Endemic DiseasesNorman Bethune College of Medical SciencesJilin UniversityChangchunP.R. Chinajingling@jlu.edu.cn

HYDER A. JINNAH

Johns Hopkins University Medical SchoolBaltimore, MDUSAhjinnah@jhmi.edu

MARTIN T. JOHN

St. Vincent’s Institute of Medical ResearchMelbourne, VICAustraliaj.martin@medicine.unimelb.edu.au

COLIN A. JOHNSON

Section of Ophthalmology and NeurosciencesLeeds Institute of Molecular MedicineSt James’s University HospitalLeedsUKc.a.johnson@bham.ac.uk

GRAEME JONES

Musculoskeletal UnitMenzies Research InstituteHobart, TASAustraliaG.jones@utas.edu.au

FRANÇOIS JOURET

Division of NephrologyUniversité Catholique de LouvainBrusselsBelgiumfrancois.jouret@nefr.ucl.ac.be

KARIN JURKAT-ROTT

Department of Applied PhysiologyUlm UniversityUlmGermanyKarin.jurkat-rott@uni-ulm.de

PRADEEP V. KADAMBI

Section of NephrologyUniversity of ChicagoChicago, ILUSA

JENS J. KADEN

1st Department of MedicineFaculty of Clinical MedicineUniversity of Heidelberg at MannheimMannheimGermanyjens.kaden@med.ma.uni-heidelberg.de

RICHARD J. KAHNOSKI

Department of UrologySpectrum HealthGrand Rapids, MIUSA

xliv List of Contributors

ZBIGNIEW KALARUS

First Department of CardiologySilesian Medical SchoolSilesian Center for Heart DiseaseZabrzePolandelfizab@poczta.onet.pl

JONATHAN M. KALMAN

Department of CardiologyRoyal Melbourne HospitalUniversity of MelbourneMelbourne, VICAustralia

DEEPAK KAMAT

Carman and Ann Adams Department of PediatricsInstitute of Medical EducationChildren’s Hospital of MichiganDetroit, MIUSAdkamat@med.wayne.edu

HIDETO KAMEDA

Division of Rheumatology/Clinical ImmunologyDepartment of Internal MedicineSaitama Medical CenterSaitama Medical UniversitySaitamaJapankamehide@saitama-med.ac.jp

NADA KANAAN

Departments of Nephrology and RadiologyCliniques Universitaires Saint-LucBrusselsBelgiumNada.kanaan@nefr.ucl.ac.be

HO SUNG KANG

Department of Molecular BiologyCollege of Natural SciencesPusan National UniversityPusanKoreahspkang@pusan.ac.kr

Y. JAMES KANG

Departments of Medicine, Pharmacology and ToxicologyUniversity of Louisville School of MedicineLouisville, KYUSAjames.kang@louisville.edu

BHARAT K. KANTHARIA

Division of Cardiac ElectrophysiologyThe University of Texas Health Science CenterHouston, TXUSABharat.K.Kantharia@uth.tmc.edu

CHAM PION KAO

BRUCE KAPLAN

University of Illinois at Chicago Transplant CenterChicago, ILUSAkaplanb@uic.edu

HENRY J. KAPLAN

Department of Ophthalmology and Visual SciencesUniversity of LouisvilleLouisville, KYUSAhank.kaplan@louisville.edu

JOSSELINE KAPLAN

Unité de Recherches Génétique et Epigénétique des MaladiesMétaboliques, Neurosensorielles et du DéveloppementINSERMHôpital des Enfants MaladesParisFrance

KEVIN KAPLAN

NYU Hospital for Joint DiseasesNew York, NYUSA

TAKATOSHI KASAI

Department of CardiologyJuntendo University, School of MedicineTokyoJapankasai-t@mx6.nisiq.net

CLIFFORD E. KASHTAN

Department of PediatricsUniversity of Minnesota Medical SchoolMinneapolis, MNUSAkasht001@umn.edu

SURENDER KASHYAP

Department of Pulmonary MedicineIndira Gandhi Medical CollegeShimlaIndiasurenderkashyap@hotmail.com

JAN KASSUBEK

Department of NeurologyUniversity of UlmUlmGermanyjan.kassubek@uni-ulm.de

List of Contributors xlv

HIDEKI KATO

Division of Nephrology and EndocrinologyUniversity of Tokyo School of MedicineTokyoJapanhideakik@k6.dion.ne.jp

SHOICHI KATSURAGI

National Kikuchi HospitalKumamotoJapankatsuras@kikuti.hosp.go.jp

DIETER KAUFMANN

Department of Human GeneticsUniversity of UlmUlmGermanydieter.kaufmann@medizin.uni-ulm.de

RAILI KAUPPINEN

Porphyria Research CentreBiomedicum-HelsinkiUniversity of HelsinkiHelsinkiFinlandraili.kauppinen@hus.fi

UNER KAYABAS

Department of Infectious DiseasesFaculty of MedicineInonu UniversityMalatyaTurkey

MICHAEL P. KEANE

Department of MedicineUniversity of Virginia School of MedicineCharlottesville, VAUSA

REJIN KEBUDI

Division of Pediatric Hematology-OncologyOncology InstituteIstanbul UniversityIstanbulTurkeyrejinkebudi@yahoo.com

JAMES C. KEITH, JR.Wyeth ResearchDiscovery Translational MedicineCollegeville, PAUSAJKeith@wyeth.com

ELIZABETH M. KEITHLEY

Department of Otolaryngology, Head and Neck SurgeryUniversity of California, San Diego School of MedicineLa Jolla, CAUSAekeithley@ucsd.edu

JUTTA KELLER

Medical Department, Israelitic HospitalAcademic Hospital of the University of HamburgHamburgGermanykeller@ik-h.de

NANCY R. KELLER

Autonomic Dysfunction CenterVanderbilt UniversityNashville, TNUSAnancy.keller@Vanderbilt.Edu

ANDREA KELLY

Division of EndocrinologyChildren’s Hospital of PhiladelphiaUniversity of Pennsylvania School of MedicinePhiladelphia, PAUSAkellya@email.chop.edu

WERNER KEMPF

Department of DermatologyUniversity Hospital ZurichZurichSwitzerlandkempf@kempf-pfaltz.ch

STEPHAN DISEAN KENDALL

Medicine, Pharmacology and Cancer BiologyDuke UniversityDurham, NCUSAstephan.kendall@duke.edu

NIR KFIR

Tel Hai CollegeSchool of Bio-TechnologyUpper GalileeIsraelnir_kfir@hotmail.com

MOHAMMAD KHALID

Pulmonary Section, Department of MedicineKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia

MARKUS KHALIL

Department of Pediatric CardiologyUniversity Hospital of HeidelbergHeidelbergGermanymarkus.khalil@med.uni-heidelberg.de

STEFAN KIECHL

Department of NeurologyUniversity Clinic InnsbruckInnsbruckAustriastefan.kiechel@uibk.ac.at

xlvi List of Contributors

KIRSTY KIEZEBRINK

University of AbertayDundeeUKk.kiezebrink@abertay.ac.uk

STEFAN KINS

ZMBHUniversity of HeidelbergHeidelbergGermanys.kins@zmbh.uni-heidelberg.de

MARGARET L. KIRBY

Department of Pediatrics, NPRIDuke UniversityDurham, NCUSAmlkirby@duke.edu

GUDULA KIRTSCHIG

Department of DermatologyVU Medical CentreAmsterdamThe NetherlandsG.Kirtschig@vumc.nl

JÖRG KLEEFF

Department of General SurgeryUniversity of HeidelbergHeidelbergGermanyjoerg_kleeff@med.uni-heidelberg.de

CHRISTINE KLEIN

Department of NeurologyUniversity of LuebeckLuebeckGermanyChristine.Klein@neuro.uni-luebeck.de

PETER KLEIN

Department of SurgeryUniversity of Erlangen-NurembergErlangenGermanypeter.klein@chir.imed.uni-erlangen.de

PHILIP J. KLEMMER

Division of Nephrology and HypertensionUniversity of North Carolina School of MedicineChapel Hill, NCUSAphilip_klemmer@med.unc.edu

STEFAN KÖLKER

Department of General Pediatrics, Division of InbornMetabolic DiseasesUniversity Children’s HospitalHeidelbergGermanyStefan.Koelker@med.uni-heidelberg.de

THOMAS KLOCKGETHER

Department of NeurologyUniversity Hospital BonnBonnGermanyThomas.Klockgether@ukb.uni-bonn.de

THOMAS KLOPSTOCK

Department of NeurologyFriedrich-Baur-Institute and Ludwig-Maximilians-University MunichMunichGermanyThomas.Klopstock@med.uni-muenchen.de

JOCHEN KLUCKEN

Department of NeurologyUniversity of RegensburgRegensburgGermanyjochen.klucken@web.de

URSULA KNIRSCH

ALS-ClinicKantonsspital St. GallenSt. GallenSwitzerlandursula.knirsch@kssg.ch

WOLFRAM TRUDO KNOEFEL

Department of General-, Visceral- and Pediatric SurgeryUniversity Hospital DuesseldorfHeinrich-Heine-UniversityDuesseldorfGermanyknoefel@med.uni-duesseldorf.de

RALPH KNÖLL

Cardiovascular Molecular GeneticsGeorg-August-University GoettingenGoettingenGermanyrknoell@med.uni-goettingen.de

THOMAS KNOLL

Department of UrologyMannheim University HospitalMannheimGermanyT.knoll@klinikverbund-suedwest.de

MARKUS KNUF

Pediatric University HospitalJohannes-Gutenberg UniversityMainzGermany

ALAN P. KNUTSEN

Division of Allergy/ImmunologyDepartment of PediatricsSaint Louis University Health Sciences CenterSt. Louis, MOUSAknutsenm@slu.edu

List of Contributors xlvii

CHRISTIAN A. KOCH

Division of EndocrinologyUniversity of Mississippi Medical CenterJackson, MSUSAckoch@medicine.umsmed.edu

NORMAN KOCK

Department of NeurologyUniversity of LuebeckLuebeckGermanynorman.kock@neuro.uni-luebeck.de

RICHARD KOCH

Department of GeneticsChildren’s Hospital Los AngelesLos Angeles, CAUSAknutsenm@slu.edu

MICHAEL KOENEN

MPI for Medical ResearchHeidelbergGermanykoenen@mpimf-heidelberg.mpg.de

SUSANNE KOHL

Molecular Genetics LaboratoryInstitute for Ophthalmic ResearchCenter for OphthalmologyUniversity of TuebingenTuebingenGermanysusanne.kohl@uni-tuebingen.de

JÜRGEN KOHLHASE

Center for Human GeneticsFreiburgGermanyjkohlhase@humangenetik-freiburg.de

RÜDIGER KÖHLING

Institute of PhysiologyUniversity of RostockRostockGermanyruediger.koehling@uni-rostock.de

ALFRIED KOHLSCHÜTTER

Department of PediatricsUniversity Medical Center Hamburg-EppendorfHamburgGermanykohlschuetter@uke.uni-hamburg.de

JOSEF KÖHRLE

EnForCéCharité University HospitalBerlinGermany

GEORG KOJDA

Institute for Pharmacology and Clinical PharmacologyUniversity Clinic DuesseldorfDuesseldorfGermany

ZDENEK KOLAR

Department of Pathology and Laboratory of MolecularPathologyPalacky UniversityOlomoucCzech Republickolarz@tunw.upol.cz

GENOVEFA D. KOLOVOU

First Cardiology DepartmentOnassis Cardiac Surgery CenterAthensGreecegenovefa@kolovou.com

THOMAS KOLTER

LIMES Program Unit Membrane Biology & LipidBiochemistryKekulé-InstituteUniversity BonnBonnGermany

TATSURO KONDOH

Department of PediatricsNagasaki University School of MedicineNagasakiJapankontatsu@nagasaki-u.ac.jp

BRUCE C. KONE

Departments of Internal Medicine and Integrative Biology,Pharmacology and PhysiologyThe University of Texas Medical School at HoustonHouston, TXUSABrunce.C.Kone@uth.tmc.edu

YRJÖ KONTTINEN

Department of MedicineBiomedicum, University of HelsinkiHelsinkiFinlandyrjo.konttinen@helsinki.fi

JÜRGEN KOPITZ

Institute of PathologyUniversity of HeidelbergHeidelbergGermany

PETER KOPP

Feinberg School of MedicineNorthwestern UniversityChicago, ILUSA

xlviii List of Contributors

CENGIZ KORKMAZ

Department of Internal MedicineEskisehir Osmangazi UniversityEskisehirTurkeydoktorcengiz@gmail.com

JOHANNES KORNHUBER

Department of Psychiatry and PsychotherapyUniversity of Erlangen Medical SchoolErlangenGermanyjohannes.kornhuber@psych.imed.uni-erlangen.de

YU RU KOU

Department of Physiology, School of MedicineNational Yang-Ming UniversityTaipeiTaiwanyrkou@ym.edu.tw

OSKAR KOWALSKI

First Department of CardiologySilesian Medical SchoolSilesian Center for Heart DiseaseZabrzePoland

ZAKI KRAIEM

Faculty of MedicineTechnionHaifaIsrael

SABINE KRAUSE

Friedrich-Baur-Institute and Department of NeurologyLudwig-Maximilians-UniversityMunichGermanySabine.Krause@med.uni-muenchen.de

MARIA-T. KRAUTH

Division of Hematology and HemostaseologyDepartment of Internal Medicine IMedical University ViennaViennaAustriamaria.krauth@meduniwien.ac.at

THOMAS KRIEG

Department of DermatologyUniversity CologneCologneGermanythomas.krieg@uni-koeln.de

GABRIELE A. KROMBACH

Department of Diagnostic RadiologyUniversity HospitalAachenGermanykrombach@rad.rwth-aachen.de

ABHIJIT V. KSHIRSAGAR

Division of Nephrology and HypertensionUniversity of North Carolina School of MedicineChapel Hill, NCUSAabhijit_kshirsagar@med.unc.edu

RALF KUBITZ

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-UniversityDuesseldorfGermanykubitz@med.uni-duesseldorf.de

KAROLINA KUBLICKIENE

Department of Obstetrics and GynecologyKarolinska University HospitalStockholmSweden

RENATA KUCEROVA

Department of DermatovenerologyPalacky University and University HospitalOlomoucCzech Republicrenata.kucerova@fnol.cz

WOLFGANG KÜHN

Department of NephrologyUniversity Medical Center FreiburgFreiburgGermanykuehn@Medizin.Ukl.Uni-Freiburg.de

RAJIV KUMAR

Department of Internal MedicineMayo Clinic and FoundationRochester, MNUSArkumar@mayo.edu

RAKESH KUMAR

Department of SurgeryAll India Institute of Medical SciencesNew DelhiIndia

KARL KUNZELMANN

Department of PhysiologyUniversity of RegensburgRegensburgGermanyuqkkunze@mailbox.uq.edu.au

SUSAN KUPKA

Department of General, Visceral and Transplant SurgeryUniversity Hospital of TuebingenTuebingenGermanysusan.kupka@med.uni-tuebingen.de

List of Contributors xlix

SHIGEO KURE

Department of Medical GeneticsTohoku University School of MedicineSendaiJapan

GERHARD KURLEMANN

University of MuensterChildren’s HospitalMuensterGermanygerhard.kurlemann@ukmuenster.de

NAOTO KURODA

Department of Pathology and Clinical LaboratoryKochi Red Cross HospitalKochiJapannkuroda@med.kochi-u.ac.jp

SIM KUTLAY

Department of NephrologyAnkara University School of MedicineAnkaraTurkey

SHARON LA FONTAINE

Centre for Cellular and Molecular BiologySchool of Life and Environmental SciencesDeakin UniversityBurwood, VICAustraliasharonl@deakin.edu.au

CARLO A. LACKERBAUER

Eye ClinicLudwig-Maximilians-University MunichMunichGermany

KAR NENG LAI

Department of MedicineThe University of Hong KongHong KongChinaknlai@hkucc.hku.hk

NIGEL G. LAING

Molecular Neurogenetics LabUniversity of Western AustraliaCentre for Medical ResearchQueen Elizabeth II Medical CentreNedlands, WAAustralianlaing@cyllene.uwa.edu.au

SEEMA R. LALANI

Department of Molecular and Human GeneticsBaylor College of MedicineHouston, TXUSAseemal@bcm.tmc.edu

BENOÎT LAMARCHE

Institute on Nutraceuticals and Functional FoodsLaval UniversityQuébec, QCCanadabenoit.lamarche@inaf.ulaval.ca

FRANK LAMMERT

Department of Internal Medicine IUniversity Hospital BonnBonnGermanyfrank.lammert@ukb.uni-bonn.de

VALÉRIA LAMOUNIER-ZEPTER

Medical Clinic IIIUniversity of DresdenDresdenGermanyValeria.Zepter@uniklinikum-dresden.de

ANNE KATRIN LAMPE

South East of Scotland Clinical Genetic ServiceWestern General HospitalEdinburghUKanneklampe@doctors.org.uk

KATJA LAMPINEN

Department of Obstetrics and GynecologyKarolinska University HospitalStockholmSwedenkatja.lampinen@karolinska.se

RISTO KAAJA

Department of Obstetrics and GynecologyHelsinki University HospitalHelsinkiFinlandkatja.lampinen@karolinska.se

RADOSŁAW LENARCZYK

First Department of CardiologySilesian Medical SchoolSilesian Center for Heart DiseaseZabrzePolandelfizab@poczta.onet.pl

DANIEL LANDAU

Department of PediatricsSoroka University Medical CenterBeer ShevaIsraelldaniel@bgu.ac.il

G. BERNHARD LANDWEHRMEYER

Department of NeurologyUlm UniversityUlmGermanybernhard.landwehrmeyer@uni-ulm.de

l List of Contributors

FLORIAN LANG

Department of PhysiologyUniversity of TuebingenTuebingenGermanyflorian.lang@uni-tuebingen.de

GABRIELE E. LANG

University Eye Hospital UlmUlmGermanygabriele.lang@uniklinik-ulm.de

KARL S. LANG

Ontario Cancer InstituteUniversity Health NetworkToronto, ONCanada

UNDINE E. LANG

Department of Psychiatry and PsychotherapyCharité University Medicine BerlinBerlinGermanyundine.lang@charite.de

LIDIA LARIZZA

Division of Medical GeneticsSan Paolo School of MedicineUniversity of MilanMilanItalylidia.larizza@unimi.it

A. J. LARNER

Cognitive Function ClinicWalton Centre for Neurology and NeurosurgeryLiverpoolUKa.larner@thewaltoncentre.nhs.uk

ZVI LARON

Schneider Children’s Medical CenterPetah Tikva/Tel AvivIsraellaronz@clalit.org.il

HENRIK LARSSON

Department of Medical Epidemiology and BiostatisticsKarolinska InstitutetStockholmSwedenHenrik.Larsson@ki.se

SYLVAIN LATOUR

INSERMHôpital NeckerParisFrancesylvain.latour@inserm.fr

LARRY LATSON

Department of Pediatric CardiologyCleveland Clinic FoundationCleveland, OHUSAlatsonl@ccf.org

ELANA LAVINE

Division of Immunology and AllergyThe Hospital for Sick ChildrenToronto, ONCanada

YVES LE LOIR

Laboratoire de MicrobiologieUMR STLO, INRARennesFranceYves.LeLoir@rennes.inra.fr

MARTINE LE MERRER

Département de GénétiqueINSERMHôpital Necker Enfants-MaladesParisFrancelemerrer@necker.fr

ALEXANDER LEAF

Harvard Medical SchoolCharlestown, MAUSAaleaf@partners.org

LINDA LEATHERBURY

Children’s National Medical CenterCGMRWashington, DCUSA

MAXIMILIAN LEDOCHOWSKI

Department of Nutritional MedicineMedical University of InnsbruckInnsbruckAustriaMaximilian.Ledochowski@tilak.at

CHAEYOUNG LEE

Ilsong Institute of Life ScienceHallym UniversityAnyangSouth Koreaclee@hallym.ac.kr

JYH-YEUAN LEE

Department of Cell Biology and BiochemistryTexas Tech University Health Sciences CenterLubbock, TXUSAjyhyeuan.lee@ttuhsc.edu

List of Contributors li

RICHARD S. LEGRO

Department of Obstetrics and GynecologyCollege of MedicinePennsylvania State UniversityHershey, PAUSArsl1@psu.edu

ANNA-ELINA LEHESJOKI

Folkhälsan Institute of Genetics and Neuroscience CenterUniversity of HelsinkiHelsinkiFinlandanna-elina.lehesjoki@helsinki.fi

FRANK LEHMANN-HORN

Department of Applied PhysiologyUlm UniversityUlmGermanyfrank.lehmann-horn@uni-ulm.de

MICHAEL J. LENARDO

Molecular Development SectionLaboratory of ImmunologyNIAID, NIHBethesda, MDUSAlenardo@nih.gov

JAMES V. LEONARD

Clinical and Molecular Genetics UnitInstitute of Child HealthUniversity College LondonLondonUKJ.Leonard@ich.ucl.ac.uk

NORMA LEONARD

Department of Medical GeneticsStollery Children’s HospitalUniversity of AlbertaEdmonton, ABCanada

PHILIPP M. LEPPER

Department of Intensive Care MedicineInselspitalUniversity of BernBernSwitzerland

HOLGER LERCHE

Departmemts of Neurology and Applied PhysiologyUniversity of UlmUlmGermanyholger.lerche@uni-ulm.de

DEREK LEROITH

Division of Endocrinology,Diabetes and Bone DiseasesMount Sinai School of MedicineNew York, NYUSAderek.leroith@mssm.edu

MARGHERITA LERONE

Laboratory of Molecular GeneticsG. Gaslini Institute, Department of PediatricsUniversity of GenovaGenovaItaly

KLAUS-PETER LESCH

Molecular and Clinical PsychobiologyDepartment of Psychiatry and PsychotherapyUniversity of WuerzburgWuerzburgGermanykplesch@mail.uni-wuerzburg.de

ALEXANDER A. C. LEUNG

Department of MedicineThe University of AlbertaEdmonton, ABCanadaaleung@ucalgary.ca

ALEXANDER K. C. LEUNG

Department of PediatricsAlberta Children’s HospitalThe University of CalgaryCalgary, ABCanadaaleung@ucalgary.ca

KLAUS LEY

Robert M. Berne Cardiovascular Research Center andDepartments of Biomedical Engineering, MolecularPhysiology and Biological PhysicsUniversity of VirginiaCharlottesville, VAUSAkfl3f@virginia.edu

CHRISTINE LIANG

Department of DermatologyNew York University School of MedicineNew York, NYUSA

CHANGHONG LI

Division of Endocrinology, Children’s Hospital ofPhiladelphiaUniversity of Pennsylvania School of MedicinePhiladelphia, PAUSA

lii List of Contributors

GUANG-SHENG LI

Institute of Endemic DiseasesNorman Bethune College of Medical SciencesJilin UniversityChangchunP.R. Chinaligs4466@yahoo.com

JIANG LI

Medical Clinic IIIMedical Faculty Carl Gustav CarusTechnical University DresdenDresdenGermany

CHRISTOPH LICHT

Department of NephrologyThe Hospital for Sick ChildrenToronto, ONTCanadachristoph.licht@sickkids.ca

VOLKER LIEBE

1st Department of MedicineFaculty of Clinical MedicineMannheim University of HeidelbergHeidelbergGermanyvolker.liebe@med.ma.uni-heidelberg.de

KATRINA LIGHT

Department of Psychological MedicineChristchurch School of Medicine and Health SciencesUniversity of OtagoChristchurchNew Zealandkatrina.light@otago.ac.nz

RICHARD W. LIGHT

Division of Allergy, Pulmonary, and Critical Care MedicineVanderbilt UniversityNashville, TNUSArlight98@yahoo.com

XIAOBO LIN

Washington University in St. LouisSchool of MedicineSt. Louis, MIUSA

YOU SHUEI LIN

Department of PhysiologyTaipei Medical UniversityTaipeiTaiwanyslin@tmu.edu.tw

KATRIN S. LINDENBERG

Department of NeurologyUlm UniversityUlmGermanykatrin.lindenberg@gmail.com

MALIN LINDSTEDT

Department of ImmunotechnologyLund UniversityLundSwedenmalin.lindstedt@immun.lth.se

DANIEL C. LINK

Division of OncologyDepartment of MedicineWashington UniversitySt. Louis, MOUSAdlink@im.wustl.edu

DANAE LIOLITSA

Centre for Neuromuscular Disease and Department ofMolecular NeuroscienceInstitute of NeurologyUniversity College LondonLondonUK

GREGORY Y. H. LIP

Hemostasis, Thrombosis and Vascular Biology UnitUniversity Department of Medicine, City HospitalBirminghamUKg.y.h.lip@bham.ac.uk

MARITA LIPSANEN-NYMAN

The Hospital for Children and AdolescentsUniversity of HelsinkiHelsinkiFinlandmarita.lipsanen@hus.fi

WALTER LISCH

Department of OphthalmologyKlinikum HanauHanauGermanylisch.hanau@t-online.de

JIRI LITZMAN

Department of Clinical Immunology and AllergologyMasaryk UniversitySt. Anne’s University HospitalBrnoCzech Republicjiri.litzman@fnusa.cz

CECILIA LO

Laboratory of Developmental BiologyNational Heart Lung Blood InstituteNational Institutes of HealthBethesda, MDUSAloc@nhlbi.nih.gov

List of Contributors liii

BRIGITTE M. LOBNIG

Department of Endocrinology, Diabetology andRheumatologyUniversity of DuesseldorfDuesseldorfGermanylobnig@med.uni-duesseldorf.de

HANNS LOCHMÜLLER

Institute of Human GeneticsNewcastle UniversityInternational Centre for LifeNewcastle upon TyneUKHanns.Lochmueller@med.uni-muenchen.de

JOHN LOGAN

Belfast City HospitalBelfastUKJohn.Logan@bch.n-i.nhs.uk

KATJA LOHMANN

Department of NeurologyUniversity of LuebeckLuebeckGermany

DIETMAR LOHMANN

Department of Human GeneticsUniversity Duisburg-EssenEssenGermanydietmar.lohmann@uni-due.de

DAVID A. LOMAS

Department of MedicineUniversity of CambridgeCambridge Institute for Medical ResearchCambridgeUKdal16@cam.ac.uk

MIRANDA LOMER

Department of GastroenterologyGuy’s & St Thomas’s NHS Foundation TrustLondonUK

NICOLA LONGO

Medical Genetics/PediatricsUniversity of UtahSalt Lake City, UTUSANicola.Longo@hsc.utah.edu

ANDREA LO MONACO

Sezione di ReumatologiaUniversità di FerraraFerraraItaly

DU TOIT LOOTS

Department of Nutrition School of Physiology, Nutrition andConsumers ScienceNorth-West UniversityPotchefstroomSouth AfricaDutoit.Loots@nwu.ac.za

ISCIA LOPES-CENDES

Department of Medical GeneticsUniversity of Campinas - UNICAMPCampinas, SPBrazilicendes@unicamp.br

FRANCISCO J. LÓPEZ-SORIANO

Departament de Bioquímica i Biologia MolecularUniversitat de BarcelonaBarcelonaSpain

CARMEN LOQUAI

Department of Dermatology, Allergology and VenerologyUniversity of Duisburg-EssenEssenGermanycarmen.loquai@medizin.uni-essen.de

AXEL LORENTZ

Nutritional Medicine and PreventionUniversity of HohenheimStuttgartGermanylorentz@uni-hohenheim.de

BIRGIT LORENZ

Department of Pediatric Ophthalmology, Strabismology andOphthalmogeneticsUniversity of Regensburg Medical CentreRegensburgGermanybirgit.lorenz@klinik.uni-regensburg.de

RICHARD LORENZ

Department of Internal MedicineUlm UniversityUlmGermanyrichard.lorenz@uniklinik-ulm.de

JOHANN LORENZEN

Institute of PathologyClinic of Dortmund gGmbHDortmundGermany

ELAN D. LOUIS

Department of NeurologyGertrude H. Sergievsky CenterCollege of Physicians and SurgeonsColumbia UniversityNew York, NYUSAedl2@columbia.edu

liv List of Contributors

JULIA LÜBLIGHOFF

III. Medical DepartmentUniversity of LeipzigLeipzigGermany

THOMAS LÜCKE

Department of PediatricsHannover Medical SchoolHannoverGermanyluecke.thomas@mh-hannover.de

MICHAELA LUCONI

Department of Clinical PhysiopathologyUniversity of FlorenceFlorenceItalym.luconi@dfc.unifi.it

ALBERT C. LUDOLPH

Department of NeurologyUniversity of UlmUlmGermanyalbert.ludolph@rku.de

AMEI LUDWIG

Institute for VirologyHeinrich-Heine-UniversityDuesseldorfGermanyamei.ludwig@uni-duesseldorf.de

THOMAS A. LUGER

Department of DermatologyUniversity Hospital of MuensterMuensterGermany

KATARZYNA LUKASIUK

The Nencki Institute of Experimental BiologyPolish Academy of SciencesWarsawPolandk.lukasiuk@nencki.gov.pl

JOËL LUNARDI

Laboratoire de Biochimie et Génétique MoléculaireCHU GrenobleGrenobleFrance

TORD M. LUNDGREN

Department of PeriodonticsLoma Linda UniversityLoma Linda, CAUSAtLundgren@llu.edu

MALCOLM A. LYONS

Gastroenterology DivisionHarvard Medical SchoolBrigham and Women’s HospitalBoston, MAUSA

LUCIA K. MA

Heart Health Institute and Department of Cardiac ScienceThe University of CalgaryCalgary, ABCanada

MICHAEL L. H. MA

Trinity CollegeDublinIreland

PATRICK T. S. MA

Heart Health Institute and Department of Cardiac ScienceThe University of CalgaryCalgary, ABCanadapma@cardiologyconsultants.ca

SIOBHAN D. MA

Royal College of SurgeonsDublinIreland

NAIM M. MAALOUF

Center for Mineral Metabolism and Clinical ResearchUniversity of Texas Southwestern Medical CenterDallas, TXUSANaim.maalouf@utsouthwestern.edu

SUSANNA MAC

Department of Chemistry and BiochemistryUniversity of CaliforniaSan Diego, CAUSAsumac@chem.ucsd.edu

JOHN F. MACGREGOR

Division of CardiologyUniversity of UtahSalt Lake City, UTUSAjohn.macgregor@hsc.utah.edu

JESUS MACHADO-SALAS

COLIN R. MACKENZIE

Institute of Medical Microbiology and Hospital HygieneUniversity Clinic DuesseldorfHeinrich-Heine-UniversityDuesseldorfGermanyColin.Mackenzie@uni-duesseldorf.de

List of Contributors lv

JAMIE MAGUIRE

Departments of Neurology and PhysiologyThe University of CaliforniaLos Angeles, CAUSA

VIKRAM K. MAHAJAN

Department of Dermatology,Venereology & LeprosyIndira Gandhi Medical CollegeShimlaIndiavkm1@rediffmail.com

HEIMO MAIRBÄURL

Department of Internal Medicine VIIDivision of Sports MedicineMedical University ClinicHeidelbergGermanyheimo.mairbaeurl@gmx.de

STEPHEN N. MAKONI

Trinity Cancer CareMinot, NDUSAstephen.makoni@louisville.edu

CARLOTTA MALAGOLI

Department of Public Health SciencesUniversity of Modena and Reggio EmiliaModenaItaly

MARCUS MALL

Department of Pediatric Oncology, Hematology,Immunology and PulmonologyUniversity of HeidelbergHeidelbergGermanyMarcus.Mall@med.uni-heidelberg.de

MARIO MANCINI

Andrology Unit, San Paolo HospitalUniversity of MilanMilanItalymancinis178@msn.com

ROBERTO MANFREDI

Infectious Diseases“Alma Mater Studiorum” University of BolognaS. Orsola HospitalBolognaItalyroberto.manfredi@unibo.it

HENRY J. MANKIN

Department of Orthopedic SurgeryMassachusetts General HospitalBoston, MAUSAhmankin@partners.org

NIRMAL S. MANN

School of MedicineUniversity of CaliforniaSacramento, CAUSAnirmal.mann@ucdmc.ucdavis.edu

BRIAN C. MANSFIELD

Correlogic Systems, Inc.Rockville, MDUSA

MASSIMO MANTEGAZZA

Deparment of NeurophysiopathologyIstituto Neurologico BestaMilanItalymmantegazza@istituto-besta.it

MARINA MARCHETTI

Laboratory for Clinical Thrombosis and HemostasisDepartment of Internal MedicineMaastricht UniversityMaastrichtThe Netherlands

BATSHEVA MARCOS

ANTHONY M. MARINAKI

Purine Research LaboratorySt. Thomas HospitalLondonUKTony.marinaki@kcl.ac.uk

MARK A. MARINELLA

Department of Internal MedicineWright State University School of MedicineDayton, OHUSAMmarinella@pol.net

CARLA MARINI

Pediatric Neurology and Neurogenetics Unit andLaboratories Children’s Hospital A. MeyerFlorenceItalycarla.marini@inpe.unipi.it

FRANCESCA MARINI

Regional Center for Hereditary Endocrine TumoursDepartment of Internal MedicineUniversity of FlorenceFlorenceItaly

lvi List of Contributors

BRUNO MARINO

Pediatric Cardiology, Department of PediatricsUniversity La SapienzaRomeItalybruno.marino@uniroma1.it

ARIE MARKEL

Department of Internal Medicine AHaemek Medical CenterAfulaIsraelarie@markel.co.il

DANIEL MARKOVICH

School of Biomedical SciencesUniversity of QueenslandBrisbane, QLDAustraliad.markovich@uq.edu.au

MARCO A. MARRA

Genome Sciences CentreBC Cancer AgencyVancouver, BCCanadammarra@bcgsc.ca

WALLACE F. MARSHALL

Department of Biochemistry & BiophysicsUniversity of CaliforniaSan Francisco, CAUSAwmarshall@biochem.ucsf.edu

DIANNA C. MARTIN

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, MBCanadaummarti8@cc.umanitoba.ca

F. ELIZABETH MARTIN

Faculty of DentistryThe University of SydneySydney, NSWAustraliafemartin@dentistry.usyd.edu.au

IRIS E. MARTINEZ-JUAREZ

TOMMY MARTINSSON

Department of ClinicalSahlgrenska University HospitalGöteborgSwedenTommy.Martinsson@clingen.gu.se

WINFRIED MÄRZ

Synlab Center of Laboratory DiagnosticsHeidelbergGermanywinfried.maerz@klinikum-graz.at

FRANK MASTAGLIA

Centre for Neuromuscular and Neurological DisordersUniversity of Western Australia, QEII Medical CentreNedlands, WAAustralia

VERENA MATEJAS

Institute of Human GeneticsUniversity of Erlangen-NurembergErlangenGermany

SISHIR MATHUR

Liver Billary Pancreatic CenterUniversity of Connecticut Health CenterFarmington, CTUSAwinfried.maerz@klinikum-graz.at

YOICHI MATSUBARA

Departments of Pediatrics and Medical GeneticsTohoku University School of MedicineSendaiJapanymats@mail.tains.tohoku.ac.jp

NAOMICHI MATSUMOTO

Department of Human GeneticsYokohama City Graduate School of MedicineYokohamaJapannaomat@yokohama-cu.ac.jp

SHIRO MATSUMOTO

NILANJANA MAULIK

Molecular Cardiology and Angiogenesis LaboratoryDepartment of SurgeryUniversity of Connecticut Health CenterFarmington, CTUSAnmaulik@neuron.uchc.edu

KIRK J. MAURER

Gastroenterology DivisionHarvard Medical SchoolBrigham and Women’s HospitalBoston, MAUSA

List of Contributors lvii

MARIA ANTONIETTA MAZZEI

Department of RadiologyUniversity of SienaSienaItalymamazzei@gmail.com

FREDDY MBOTI

Medico-Surgical Department of GastroenterologyULB-Erasme HospitalBrusselsBelgiumfreddymboti@hotmail.com

TOMMIE V. MCCARTHY

Department of BiochemistryUniversity College CorkCorkIrelandt.mccarthy@ucc.ie

F. DENNIS MCCOOL

Pulmonary Critical Care MedicineMemorial Hospital of Rhode IslandPawtucket, RIUSAF_McCool@Brown.edu

M. ELIZABETH MCCREADY

Ottawa Health Research InstituteOttawa, ONCanada

HEATHER E. MCDERMID

Department of Biological SciencesUniversity of AlbertaEdmonton, ABCanadahmcdermi@gpu.srv.ualberta.ca

RITA L. MCGILL

Department of MedicineTeine Keijinkai HospitalTeine, SapporoJapannephrogirl@gmail.com

JOHN A. MCGRATH

Genetic Skin Disease GroupSt John’s Institute of DermatologyGuy’s HospitalLondonUKjohn.mcgrath@kcl.ac.uk

BERNADETTE MCGUINNESS

Belfast City HospitalBelfastUK

IAIN B. MCINNES

Division of Immunology, Infection and InflammationGlasgow Biomedical Research CentreUniversity of GlasgowGlasgowUKi.b.mcinnes@clinmed.gla.ac.uk

WILLIAM J. MCKENNA

Inherited Cardiovascular Disease GroupThe Heart Hospital, University College London Hospitals,NHS Trust and Institute of Cardiovascular ScienceUniversity College LondonLondonUK

VALLERIE V. MCLAUGHLIN

Pulmonary Hypertension ProgramUniversity of Michigan Health SystemAnn Arbor, MIUSA

TIM MCQUINN

Department of Cell Biology and AnatomyCardiovascular Developmental Biology CenterMedical University of South CarolinaCharleston, SCUSAmcquinnt@musc.edu

MOSAAD MEGAHED

Clinic of DermatologyHeinrich-Heine-UniversityDuesseldorfGermanyMegahed@uni-duesseldorf.de

DAVENDRA MEHTA

Division of Cardiac Electrophysiology and ArrhythmiaServiceMount Sinai Hospital and School of MedicineNew York, NYUSAdavendra.mehta@mssm.edu

LAXMI S. MEHTA

Division of CardiologyDepartment of Internal MedicineThe Ohio State UniversityColumbus, OHUSAlmehta@beaumont.edu

HANS-MICHAEL MEINCK

Department of NeurologyUniversity of HeidelbergHeidelbergGermanyhans-michael_meinck@med.uni-heidelberg.de

ROBERT J. MEISLIN

NYU Hospital for Joint DiseasesNew York, NYUSARobert.Meislin@nyumc.org

lviii List of Contributors

EITAN MELAMED

Rabin Medical CenterPetach TikwaIsrael

MARIA MELARAGNO

Department of Liver Transplantation and HepatobiliarySurgeryRoyal Free HospitalHampstead, LondonUKmelaragno.morf@epm.br

KIRSTAN K. MELDRUM

Department of Pediatric UrologyJames Whitcomb Riley Hospital for ChildrenIndiana University Medical CenterIndianapolis, INUSAkkmeldrum@earthlink.net

DAMIAN C. MELLES

Department of Medical Microbiology and Infectious DiseasesErasmus University Medical CentreRotterdamThe Netherlandsd.melles@erasmusmc.nl

ARTHUR MELMS

Department of General Neurologyand Hertie-Institute for Clinical Brain ResearchUniversity of TuebingenTuebingenGermanyarthur.melms@uni-tuebingen.de

MARTIN MEMPEL

Department of Dermatology and AllergologyTechnische Universitaet MunichMunichGermany

SULTAN AYOUB MEO

Department of PhysiologyCollege of MedicineKing Khalid University HospitalKing Saud UniversityRiyadhKingdom of Saudi Arabia

JULIAN F. B. MERCER

Centre for Cellular and Molecular BiologySchool of Life and Environmental SciencesDeakin UniversityBurwood, VICAustraliajmercer@deakin.edu.au

DEBORAH P. MERKE

Warren Grant Magnuson Clinical Center and The EuniceKennedy Shriver National Institute of Child Health andHuman DevelopmentNational Institutes of HealthBethesda, MDUSAdmerke@cc.nih.gov

GEORG MERKER

Clinic of Gastroenterology, Hepatology and InfectiologyUniversity DuesseldorfDuesseldorfGermanygeorg.merker@med.uni-duesseldorf.de

DIETER METZE

Department of DermatologyUniversity Hospital of MuensterMuensterGermanymetzed@uni-muenster.de

CHRISTOPH MICHALSKI

Department of General SurgeryUniversity of HeidelbergHeidelbergGermany

VANNA MICHELI

Department of Molecular BiologyUniversity of SienaSienaItalymicheli@unisi.it

LODEWYK J. MIENIE

School of BiochemistryNorth-West UniversityPotchefstroomSouth Africa

ROSSANA MINERI

Unit of Molecular NeurogeneticsPierfranco and Luisa Mariani Center for the Study ofChildren’s Mitochondrial DisordersIRCCS Foundation Neurological Institute “C Besta”MilanItaly

MASSIMILIANO MIRABELLA

Department of NeuroscienceCatholic UniversityRomeItalymirabella@rm.unicatt.it

EMINE DIBEK MISIRLIOĞLU

Department of PediatricsKırıkkale University Faculty of MedicineKırıkkaleTurkeyedibekm@yahoo.com

List of Contributors lix

ROSALIA MISSERI

Children’s Hospital of New YorkPresbyterian HospitalWeill Cornell Medical CollegeNew York, NYUSArmisserir@med.cornell.edu

LAURA E. MITCHELL

Institute of Biosciences and TechnologyTexas A&M University System Health Science CenterHouston, TXUSAlmitchell@ibt.tamhsc.edu

HIROSHI MITSUBUCHI

YOHEI MIYAGI

Molecular Pathology and Genetics DivisionKanagawa Cancer Center Research InstituteYokohamaJapanmiyagi@gancen.asahi.yokohama.jp

NORIKO MIYAKE

Department of Medicine (Genetics)Children’s Hospital Boston and Harvard Medical SchoolBoston, MAUSA

MAKOTO MIYARA

Department of Experimental PathologyInstitute for Frontier Medical SciencesKyoto UniversityKyotoJapan

SHUKI MIZUTANI

Department Pediatrics and Developmental BiologyGraduate School of MedicineTokyo Medical and Dental UniversityTokyoJapanSkkmiz@gmail.com

GORDANA MLINARIC-GALINOVIC

Department of VirologyCollaborating Centre WHO for VirologyCroatian National Institute of Public HealthZagrebCroatia

ABDULLAH F. MOBEIREEK

Pulmonary SectionDepartment of MedicineKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabiamobeireek@yahoo.com

DONALD M. MOCK

Department of Biochemistry and Molecular BiologyUniversity of Arkansas for Medical SciencesLittle Rock, ARUSAMockDonaldM@uams.edu

ISTVAN MODY

Departments of Neurology and PhysiologyThe University of CaliforniaLos Angeles, CAUSAmody@ucla.edu

JENS MOGENSEN

Department of CardiologyAarhus University HospitalSkejbyDenmarkjens.mogensen@dadlnet.dk

MOOSA MOHAMMADI

Department of PharmacologyNew York University School of MedicineNew York, NYUSAmohammad@saturn.med.nyu.edu

NILUFAR MOHEBBI

Institute of Physiology and Zurich Center for IntegrativeHuman PhysiologyUniversity of ZurichZurichSwitzerland

SARA MOLE

MRC Laboratory for Molecular Cell Biology and Departmentof Pediatrics & Child HealthUniversity College LondonLondonUKs.mole@ucl.ac.uk

NESTOR A. MOLFINO

Otsuka Maryland Research InstituteRockville, MDUSAnestorm@otsuka.com

INGRID MOLL

Department of Dermatology, and VenerologyUniversity Hospital Hamburg-EppendorfHamburgGermanymoll@uke.uni-hamburg.de

ANNE M. MOLLOY

Department of BiochemistryTrinity College DublinDublinIrelandamolloy@tcd.ie

lx List of Contributors

MARIA JUDIT MOLNAR

Center for Molecular NeurologyDepartment of Neurology, UniversityBudapestHungarymolnarmj@gmail.com

JAN MONCOL

Faculty of Chemical and Food TechnologySlovak Technical UniversityBratislavaSlovakiajan.moncol@stuba.sk

MANUEL MONTESINOS-RONGEN

Department of NeuropathologyUniversity of CologneCologneGermanyneuropatho@uni-koeln.de

TIMOTHY M. MOORE

Department of Internal MedicineUniversity of South Alabama College of MedicineMobile, ALUSAtmoore@jaguar1.usouthal.edu

NARAIN MOORJANI

Department of Cardiothoracic SurgeryJohn Radcliffe HospitalUniversity of OxfordOxfordUKnarainmoorjani@hotmail.com

DARIUS MORADPOUR

Division of Gastroenterology and HepatologyCentre Hospitalier Universitaire VaudoisLausanneSwitzerland

HIROMU MORI

MICHAEL L. MORITZ

Division of NephrologyChildren’s Hospital of PittsburghPittsburgh, PAUSAmoritzml@upmc.edu

HIROYUKI MORIUCHI

Department of PediatricsNagasaki University School of MedicineNagasakiJapan

BERNICE E. MORROW

Department of Molecular GeneticsAlbert Einstein College of MedicineBronx, NYUSA

GEERT MORTIER

Center for Medical GeneticsGhent University HospitalGhentBelgiumgeert.mortier@UGent.be

KATHRYN MOSELEY

CHEARUniversity of Michigan Medical SchoolAnn Arbor, MIUSAKMoseley@chla.usc.edu

S. HARVEY MUDD

NIHM/DIRP/LMBNational Institutes of HealthBethesda, MDUSAmuddh@mail.nih.gov

WALTER MUIR

Division of PsychiatrySchool of Molecular and Clinical MedicineUniversity of EdinburghRoyal Edinburgh HospitalEdinburghUK

ROGER MULDER

Department of Psychological MedicineChristchurch School of Medicine and Health SciencesUniversity of OtagoChristchurchNew Zealand

NORBERT MÜLLER

Hospital for Psychiatry and PsychotherapyLudwig-Maximilians-UniversityMunichGermanynorbert.mueller@med.uni-muenchen.de

ULRICH MÜLLER

Institute of Human GeneticsGiessen UniversityGiessenGermanyUlrich.Mueller@humangenetik.med.uni-giessen.de

STEVEN MUMM

Division of Bone and Mineral DiseasesWashington University School of MedicineSt. Louis, MOUSAsmumm@imgate.wustl.edu

List of Contributors lxi

EGBERT MUNDT

Department of Population HealthUniversity of GeorgiaAthens, GAUSAemundt@uga.edu

MARCO MURA

Malattie RespiratoriePoliclinico Tor VergataRomeItalymarcomura@hotmail.com

FERID MURAD

Department of Integrative Biology and PharmacologyThe Medical SchoolUniversity Of Texas Health Sciences CenterHouston, TXUSAFerid.Murad@uth.tmc.edu

PATRICK MURRAY

University of ChicagoChicago, ILUSApmurray@medicine.bsd.uchicago.edu

GIOVANNA MUSCO

Dulbecco Telethon Institute, Biomolecular NMR Laboratoryc/o DIBIT S.Raffaele Scientific InstituteMilanItalymusco.giovanna@hsr.it

BENNETT MYERS

Dent Neurological InstituteOrchard Park, NYUSAbmyers@dentinstitute.com

RIMA NABBOUT

Department of Pediatric NeurologyHôpital Necker Enfants MaladesParisFrancerima.nabbout@nck.aphp.fr

MANGALA A. NADKARNI

Institute of Dental Research, Westmead Millennium Instituteand Westmead Centre for Oral HealthWestmead HospitalWestmead, NSWAustraliamnadkarni@dental.wsahs.nsw.gov.au

MIKI NAGASE

Department of Nephrology and EndocrinologyUniversity of Tokyo Graduate School of MedicineTokyoJapanmnagase-tky@umin.ac.jp

YOJI NAGASHIMA

Department of Molecular PathologyYokohama City University Graduate School of MedicineYokohamaJapanynagas@med.yokohama-cu.ac.jp

YASUAKI NAKAGAWA

Department of Orthopedic SurgeryFaculty of MedicineKyoto UniversityKyotoJapanynaka@kuhp.kyoto-u.ac.jp

KIMITOSHI NAKAMURA

Department of PediatricsKumamoto University Graduate School of Medical ScienceKumamotoJapannakamura@kumamoto-u.ac.jp

M. MURAT NAKI

Department of Obstetrics and GynecologyGöztepe Research and Education HospitalIstanbulTurkeymmuratnaki@yahoo.com

MALLIKARJUNA NALLEGOWDA

Department of Physical Medicine and RehabilitationAll India Institute of Medical SciencesNew DelhiIndiadrmallik@yahoo.com

JAE-HWAN NAM

Laboratory of Viral ImmunologyDepartment of BiotechnologyThe Catholic University of KoreaBucheon, GyeonggiKoreajhnam@catholic.ac.kr

THOMAS NAMDAR

Department of General, Visceral and Pediatric SurgeryUniversity Hospital DuesseldorfHeinrich-Heine UniversityDuesseldorfGermanynamdar@med.uni-duesseldorf.de

MASAOMI NANGAKU

Division of Nephrology and EndocrinologyUniversity of Tokyo School of MedicineTokyoJapanmnangaku-tky@umin.ac.jp

CARLO PACE NAPOLEONE

Pediatric Cardiac Surgery UnitS. Orsola-Malpighi HospitalBolognaItaly

lxii List of Contributors

DOROTHEE NASHAN

Department of DermatologyUniversity of FreiburgFreiburgGermany

SIRAJEDIN NATAH

Gastrointestinal Research GroupDepartment of Physiology & BiophysicsThe University of CalgaryCalgary, ABCanadasnatah@ucalgary.ca

YESIM NEGIS

Vascular Biology LaboratoryJM USDA-HNRCATufts University BostonBoston, MSUSA

BERND A. NEUBAUER

Department of Pediatric NeurologyChildren’s Medical CenterUniversity of Giessen and MarburgGiessenGermanyBernd.A.Neubauer@paediat.med.uni-giessen.de

JOHN NEWSOM-DAVIS*Weatherall Institute of Molecular Medicine, John RadcliffeHospital, Department of Clinical NeurologyUniversity of OxfordOxfordUKjohn.newsomdavis@btinternet.com

TAM NGUYEN

University of DuesseldorfDuesseldorfGermanynguyethi@uni-duesseldorf.de

SOPHIE NICOLE

InsermUniversité Pierre et Marie CurieUMRParisFrancenicole@chups.jussieu.fr

FRANCK E. NICOLINI

Hematology DepatmentEdouard Herriot HospitalLyonFrancefranck-emmanuel.nicolini@chu-lyon.fr

CHRISTOPHE NICOT

Department of Microbiology, Immunology and MolecularGeneticsUniversity of Kansas Medical CenterKansas City, KSUSAcnicot@kumc.edu

HANS HELMUT NILLER

Institute of Medical MicrobiologyUniversity of RegensburgRegensburgGermany

INGO NINDL

Applied TumorvirologyGerman Cancer Research Center (DKFZ)HeidelbergGermanyi.nindl@dkfz-heidelberg.de

TOSHIO NISHIKIMI

Department of Hypertension and Cardiorenal MedicineDokkyo Medical UniversityMibu, TochigiJapannishikim@dokkyomed.ac.jp

KOICHIRO NIWA

Department of PediatricsChiba Cardiovascular CenterChibaJapanKNIWA@aol.com

SOHEYL NOACHTAR

Section of SleepDepartment of NeurologyUniversity of MunichMunichGermanynoa@med.uni-muenchen.de

DONATUS NOHR

Department of Biological Chemistry and NutritionUniversity HohenheimStuttgartGermanynohr@uni-hohenheim.de

CHARLES R. NOLAN

Department of Medicine & SurgeryUniversity of Texas Health Sciences CenterSan Antonio, TXUSAnolan@uthscsa.edu

JOHANNES C. NOSSENT

Department of RheumatologyInstitute Clinical MedicineUniversity of Tromsø and University Hospital North NorwayTromsøNorwayhans.nossent@unn.no* deceased

List of Contributors lxiii

MARKUS M. NÖTHEN

Department of Genomics, Life and Brain CenterUniversity of BonnBonnGermanymarkus.noethen@uni-bonn.de

CARLO NUNES

JEAN-MARC NUOFFER

Institute of Clinical ChemistryInselspitalBern University Hospital and University of BernBernSwitzerlandJean-Marc.Nuoffer@insel.ch

WILLIAM L. NYHAN

Department of PediatricsUniversity of California at San DiegoLa Jolla, CAUSAwnyhan@ucsd.edu

ABRAHAM NYSKA

Sackler School of MedicineTel Aviv UniversityTel AvivIsraelanyska@bezeqint.net

JOHANN OCKENGA

Department of Gastroenterology,Hepatology and EndocrinologyCharité University HospitalBerlinGermanyjohann.ockenga@charite.de

MARK OETTE

Clinic for Gastroenterology, Hepatology, and InfectiousDiseasesUniversity Clinic DuesseldorfDuesseldorfGermanyoettem@med.uni-duesseldorf.de

GOO TAEG OH

Laboratory of Cardiovascular GenomicsEwha Womans UniversitySeoulKoreagootaeg@ewha.ac.kr

VINZENZ OJI

Department of DermatologyUniversity Hospital of MuensterMuensterGermanyojiv@uni-muenster.de

FUMITO OKADA

Department of Diagnostic and Interventional RadiologyOita University Faculty of MedicineOitaJapanfumitook@med.oita-u.ac.jp

LAJOS OKOLICSANYI

Gastroenterology Unit, Liver Transplantation UnitDepartment of Surgical and Gastroenterological SciencesUniversity Hospital of PaduaPaduaItaly

ANDERS OLDFORS

Department of PathologySahlgrenska University HospitalGöteborgSwedenanders.oldfors@gu.se

ALEXANDER OLIVARES-REYES

Guerriari Heart & Cardiovascular InstitutePenisula Regional Medical CenterSalisbury, MDUSAalexolivares@msn.com

DARIO OLIVIERI

Department of Clinical SciencesRespiratory Disease SectionUniversity of ParmaParmaItaly

BOB OLSSON

Hematology Section, Department of Internal MedicineSahlgrenska University HospitalGothenburgSwedenbob.olsson@medic.gu.se

ANDO ASAMI ONO

GUIDO OPPIDO

Pediatric Cardiac Surgery UnitS. Orsola-Malpighi HospitalBolognaItalyguidooppido@yahoo.com

JORDAN S. ORANGE

Children’s Hospital of PhiladelphiaPhiladelphia, PAUSAorange@mail.med.upenn.edu

lxiv List of Contributors

EDITH ORION

LEONARD O’SULLIVAN

Ergonomics Research GroupManufacturing and Operations Engineering DepartmentUniversity of LimerickLimerickIrelandLeonard.osullivan@ul.ie

CHRISTY T. OSWALT

Division of EndocrinologyUniversity of Mississippi Medical CenterJackson, MSUSA

PAUL A. OVERBEEK

Department of Molecular and Cellular BiologyBaylor College of MedicineHouston, TXUSAoverbeek@bcm.tmc.edu

INGRID PABINGER

Division of Hematology and HemostaseologyDepartment of Internal Medicine IMedical University ViennaViennaAustriaIngrid.pabinger@meduniwien.ac.at

KAREL PACAK

Clinical Neurocardiology SectionNINDS, National Institutes of HealthBethesda, MDUSA

GEORGE W. PADBERG

Department of NeurologyRadboud University Nijmegen Medical CentreNijmegenThe NetherlandsG.Padberg@neuro.umcn.nl

RODOLFO PAOLETTI

Department of Pharmacological SciencesUniversity of MilanMilanItalyrodolfo.paoletti@unimi.it

JAMES J. PAPARELLO

Division of Nephrology and HypertensionNorthwestern University Medical SchoolChicago, ILUSAjpaparello@nmff.org

ELENA PARRINI

Pediatric Neurology and Neurogenetics Unit and LaboratoriesChildren’s Hospital A. MeyerFlorenceItalyelena.parrini@inpe.unipi.it

RALF PASCHKE

Department of Internal Medicine IIIUniversity of LeipzigLeipzigGermanyRalf.Paschke@medizin.uni-leipzig.de

MARZIA PASQUALI

Department of Pathology and ARUP Institute for Clinical andExperimental PathologySalt Lake City, UTUSApasquam@aruplab.com

MARIA RITA PASSOS-BUENO

Human Genome Research CenterDepartment of Genetics and Evolutionary BiologyInstitute of BiosciencesUniversity of São PauloSão PauloBrazilpassos@ib.usp.br

LEV I. PATRUSHEV

Department of BiotechnologyShemyakin-Ovchinnikov Institute of Bioorganic ChemistryRASMoscowRussiapatrush@mail.ibch.ru

DANIEL F. PAULY

Department of Medicine, Division of CardiovascularMedicineUniversity of FloridaGainesville, FLUSApaulydf@medicine.ufl.edu

RALF PAUS

Department of Dermatology, Venerology and AllergyUniversity Hospital Schleswig-HolsteinUniversity of LuebeckLuebeckGermanyralf.paus@derma.uni-luebeck.de

PIERO PAVONE

Department of PediatricsUniversity of CataniaCataniaItalyppavone@unict.it

List of Contributors lxv

SIMON H. PEARCE

Institute of Human GeneticsInternational Centre for LifeUniversity of Newcastle upon TyneNewcastle upon TyneUKs.h.s.pearce@ncl.ac.uk

JEAN-FRANÇOIS PELLISSIER

Laboratoire de Biopathologie Nerveuse et MusculaireFaculté de Médecine de MarseilleMarseilleFrancejean-francois.pellissier@medecine.univ-mrs.fr

KATERINA TANYA B. PEREZ-GOSIENGFIAO

NILS PETERS

Department of NeurologyLudwig-Maximilians-University MunichMunichGermanyNils.Peters@med.uni-muenchen.de

ROLAND PFÄFFLE

Pediatric DepartmentUniversity of LeipzigLeipzigGermany

KLAUS PFEFFER

Institute of Medical Microbiology and Hospital HygieneUniversity Clinic DuesseldorfHeinrich-Heine-UniversityDuesseldorfGermanyKlaus.Pfeffer@uni-duesseldorf.de

HANS-WALTER PFISTER

Department of NeurologyLudwig-Maximilians UniversityMunichGermanyHans-Walter.Pfister@med.uni-muenchen.d

MARKUS PFISTER

Department of Otolaryngology and Head and Neck SurgeryUniversity of TuebingenTuebingenGermanympfister@onlinehome.de

STEFAN PFISTER

Department of Pediatric Oncology, Hematology andImmunologyUniversity of HeidelbergHeidelbergGermanyS.Pfister@dkfz-heidelberg.de

FABIENNE PICARD

Department of NeurologyUniversity Hospital of GenevaGenevaSwitzerlandFabienne.Picard1@hcuge.ch

BEN PICKARD

Medical Genetics Section, Molecular Medicine CentreUniversity of EdinburghWestern General HospitalEdinburghUKben.pickard@ed.ac.uk

CHIARA PIERANTONI

Clinica di Oncologia Medica, Università Politecnica delleMarcheOspedali Riuniti Umberto I –GMLancisi –GSalesi diAnconaAnconaItaly

MASSIMO PINZANI

Dipartimento di Medicina InternaUniversità degli Studi di FirenzeFlorenceItalym.pinzani@dmi.unifi.it

ELENA PIOVESANA

Gastroenterology Unit, Liver Transplantatioin Unit,Department of Surgical and Gastroenterological SciencesUniversity Hospital of PaduaPaduaItaly

ELENA PISCHIK

Porphyria Research CentreBiomedicum-HelsinkiUniversity of HelsinkiHelsinkiFinlandpischike@yahoo.com

ASLA PITKÄNEN

Department of NeurobiologyA.I.Virtanen Institute for Molecular SciencesUniversity of KuopioKuopioFinlandasla.pitkanen@uku.fi

CLAUDIU PLESA

Hematology DepartmentEdouard Herriot HospitalLyonFranceclaudiu_plesa@yahoo.com

STEFAN K. PLONTKE

Department of Otorhinolaryngology – Head and NeckSurgeryUniversity of TuebingenTuebingenGermanyStefan.Plontke@uni-tuebingen.de

lxvi List of Contributors

T. BALAKRISHNA PODUVAL

Immunology and Hyperthermia SectionRadiation Biology and Health Sciences DivisionBhabha Atomic Research CentreMumbaiIndiatbpodu@barc.gov.in

DON POLDERMANS

ThoraxcenterDepartment of CardiologyErasmus Medical Center RotterdamRotterdamThe Netherlandsd.poldermans@erasmusmc.nl

BWEE TIEN POLL-THE

Department of Pediatric NeurologyEmma Children’s HospitalAcademic Medical CenterAmsterdamThe Netherlandsb.t.pollthe@amc.uva.nl

ZORAN V. POPOVIC

Department of Cellular and Molecular PathologyGerman Cancer Research CenterUniversity of HeidelbergHeidelbergGermanyz.popovic@dkfz-heidelberg.de

JAMES M. POWERS

Department of Pathology, School of Medicine and DentistryUniversity of RochesterRochester, NYUSAjames_powers@urmc.rochester.edu

CHRISTIAN POX

Medical DepartmentRuhr-University BochumBochumGermanychristian.p.pox@rub.de

AINU PRAKASH-CHENG*Department of Genetics and Genomic SciencesMount Sinai School of Medicine of New York UniversityNew York, NYUSAainu.prakash@mssm.edu

HILMAR PRANGE

Department of NeurologyGeorg-August-University GoettingenGoettingenGermanyhprange@gwdg.de

ANANDA S. PRASAD

Department of Medicine, Division of Hematology-OncologyWayne State UniversityUniversity Health CenterDetroit, MIUSAprasada@karmanos.org

MARKUS N. PREISING

Department of Pediatric Ophthalmology, Strabismology andOphthalmogeneticsUniversity of Regensburg Medical CentreRegensburgGermanymarkus.preising@klinik.uni-regensburg.de

NOEL W. PRESTON

Microbial ImmunologyUniversity of ManchesterManchesterUKnw.preston.vi@connectfree.co.uk

DOMINIQUE PRIÉ

INSERMUniversity of ParisParisFrancedprie@bichat.inserm.fr

LOURDES PRIETO

Department of Congenital Heart DiseaseCleveland Clinic FoundationCleveland, OHUSAPRIETOL@ccf.org

SILVIA G. PRIORI

Molecular CardiologyIRCCS Fondazione MaugeriPaviaItalyspriori@fsm.it

PETER PROPPING

Institute of Human GeneticsUniversity of BonnBonnGermanypropping@uni-bonn.de

TREVOR J. PUGH

Genome Sciences CentreBC Cancer AgencyVancouver, BCCanada

HERVÉ PUY

Centre Français des PorphyriesINSERMHôpital Louis MourierColombesFranceherve.puy@apr.aphp.fr* deceased

List of Contributors lxvii

ROSALINE C. M. QUINLIVAN

Centre for Inherited Neuromuscular DisordersRobert Jones and Agnes Hunt Orthopaedic and DistrictHospital NHS TrustOswestryUKRos.Quinlivan@rjah.nhs.uk

JULIE RAGGIO

Department of MedicineGeorgetown UniversityWashington, DCUSA

OLAYINKA RAHEEM

Neuromuscular PathologyUniversity of TampereTampereFinlandoiraheem@cc.jyu.fi

SATISH R. RAJ

Vanderbilt UniversityMedical Center NorthNashville, TNUSA

SINGH RAJENDER

Centre for Cellular and Molecular BiologyHyderabadIndia

NANDHAGOPAL RAMACHANDIRAN

Pacific Parkinson’s Research CentreVancouver, BCCanadarnandagopal@yahoo.com

HENA R. RAMAY

Pharmacology and Systems TherapeuticsMount Sinai School of MedicineNew York, NYUSA

YUVAL RAMOT

Hadassah – Hebrew University Medical CentreJerusalemIsraelyramot@gmail.com

TROY D. RANDALL

Trudeau InstituteSaranac Lake, NYUSAtrandall@trudeauinstitute.org

JAVIER RANGEL-MORENO

Trudeau InstituteSaranac Lake, NYUSA

P. SYAMASUNDAR RAO

Division of Pediatric CardiologyThe University of Texas/Houston Medical SchoolChildren’s Memorial Hermann HospitalHouston, TXUSAP.Syamasundar.Rao@uth.tmc.edu

GUDRUN RAPPOLD

Institute of Human GeneticsUniversity of HeidelbergHeidelbergGermanygudrun_rappold@med.uni-heidelberg.de

CARLA RAUTENBERG

Division of Rheumatology and Clinical ImmunologyUniversity Hospital FreiburgFreiburgGermanycarla.rautenberg@uniklinik-frieburg.de

ROBERTO RAVAZZOLO

Laboratory of Molecular GeneticsG. Gaslini InstituteDepartment of PediatricsUniversity of GenovaGenovaItalyrravazzo@unige.it

AMY S. RAWLS

Division of OncologyDepartment of MedicineWashington UniversitySt. Louis, MOUSA

DOMINIQUE RÉCAN-BUDIARTHA

Laboratoire de Biochimie et Génétique MoléculaireHôpital Cochin AP-HPParisFrancerecan@cochin.inserm.fr

MIKE RECHER

Clinic for ImmunologyDepartment of Internal MedicineUniversity Hospital ZurichZurichSwitzerlandrechermike@bluewin.ch

HARI REDDY

RICHARD J. REECE

Faculty of Life SciencesUniversity of ManchesterManchesterUK

lxviii List of Contributors

DAVID C. REES

King’s College HospitalLondonUKdavid.rees@kcl.ac.uk

GUIDO REIFENBERGER

Department of NeuropathologyHeinrich-Heine-UniversityDuesseldorfGermanyreifenberger@med.uni-duesseldorf.de

ROLAND REINEHR

Clinic for Gastroenterology, Hepatology and InfectiologyUniversity Hospital DuesseldorfDuesseldorfGermanyreinehr@uni-duesseldorf.de

ANDRÉ REIS

Institute of Human GeneticsUniversity of Erlangen-NurembergErlangenGermanyreis@humgenet.uni-erlangen.de

JAN RÉMI

Section of SleepDepartment of NeurologyUniversity of MunichMunichGermanyJan.remi@med.uni-muenchen.de

BETTINA C. REULECKE

Department of PediatricsUniversity Hospital of MuensterMuensterGermanyreulecke@uni-muenster.de

ARNOLD REUSER

Department of Clinical GeneticsErasmus Medical CenterRotterdamThe Netherlandsa.reuser@erasmusmc.nl

STEFAN REUTER

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-UniversityDuesseldorfGermanyStefan.Reuter@med.uni-duesseldorf.de

NICOLE REVENCU

Laboratory of Human Molecular GeneticsChristian de Duve Institute of Cellular PathologyUniversité Catholique de LouvainBrusselsBelgiumnicole.revencu@bchm.ucl.ac.be

JOACHIM RICHTER

Tropical Medicine UnitClinics for Gastroenterology, Hepatology andInfectious DiseasesHeinrich-Heine-UniversityDuesseldorfGermanyJoachim.Richter@med.uni-duesseldorf.de

ANNETTE RICHTER-UNRUH

Endokrinologikum RuhrBochumGermanyannette.richterunruh@endokrinologikum.com

MARKUS J. RIEMENSCHNEIDER

Department of NeuropathologyHeinrich-Heine-UniversityDuesseldorfGermanyM.J.Riemenschneider@gmx.de

FELIX G. RIEPE

Division of Pediatric Endocrinology and DiabetesDepartment of PediatricsUniversity Hospital Schleswig-HolsteinChristian-Albrechts-UniversityKielGermanyfriepe@pediatrics.uni-kiel.de

MARCELLA RIETSCHEL

Department of GenomicsUniversity of BonnBonnGermany

MARC RIGHINI

Angiology and HemostasisUniversity Hospitals of GenevaGenevaSwitzerland

EVA RIVEIRA-MUNOZ

Division of NephrologyUCL Medical SchoolBrusselsBelgium

AVRAHAM I. RIVKIND

Department of SurgeryHadassah University HospitalJerusalemIsraelavir@hadassah.org.il

KURT C. ROBERTS-THOMSON

Department of CardiologyRoyal Melbourne HospitalUniversity of MelbourneMelbourne, VICAustraliakurtrt@ozemail.com.au

List of Contributors lxix

DAVID ROBERTSON

Autonomic Dysfunction CenterVanderbilt UniversityNashville, TNUSAdavid.robertson@vanderbilt.edu

DROR ROBINSON

Rabin Medical CenterPetach TikwaIsraeldror61@yahoo.com

WIILIAM LANE M. ROBSON

The Childrens’ ClinicCalgary, ABCanadalanerobson@msn.com

VINCENZO ROCHIRA

Department of Medicine, Endocrinology & MetabolismGeriatricsUniversity of Modena and Reggio EmiliaModenaItalyrochira.vincenzo@unimore.it

H. PETER RODEMANN

Division of Radiobiology & Molecular EnvironmentalResearchDepartment of Radiation OncologyEberhard-Karls UniversityTuebingenGermanyhans-peter.rodemann@uni-tuebingen.de

DAN M. RODEN

Vanderbilt University School of MedicineNashville, TNUSAdan.roden@vanderbilt.edu

CHAIM M. ROIFMAN

Division of Immunology and AllergyThe Hospital for Sick ChildrenToronto, ONCanadacroifman@sickkids.ca

JESSE ROMAN

Department of MedicineEmory University School of MedicineAtlanta, GAUSAroman-rodriguez.jesse@atlanta.va.gov

PIERRE RONCO

INSERM, UMRParisFrancepierre.ronco@tnn.aphp.fr

ANGELIQUE L. ROPS

Nephrology Research LaboratoryNijmegen Centre for Molecular Life SciencesDivision of NephrologyRadboud University Nijmegen Medical CentreNijmegenThe Netherlandsnkuroda@med.kochi-u.ac.jp

TOM ROSSENBACKER

Molecular CardiologyIRCCS Fondazione MaugeriPaviaItaly

BERNARD C. ROSSIER

Department of Pharmacology and ToxicologyLausanne UniversityLausanneSwitzerland

ELIO ROTI

Istituto di EndocrinologiaUniversity of MilanMilanItalyelioroti@libero.it

MARTIN ROTTER

Swiss Cardiovascular Center BernUniversity HospitalBernSwitzerlandmartin.rotter@insel.ch

ANDREW ROZELLE

Division of Immunology and RheumatologyStanford University School of MedicinePalo Alto, CAUSA

TODD D. ROZEN

Michigan Head-Pain and Neurological InstituteAnn Arbor, MIUSAtdrozmigraine@yahoo.com

JAN ROZING

Department of Cell Biology, Immunology SectionUniversity Medical Center GroningenGroningenThe Netherlandsj.rozing@med.umcg.nl

LEWIS J. RUBIN

Division of Pulmonary and Critical Care MedicineDepartment of MedicineUniversity of California at San DiegoLa Jolla, CAUSA

lxx List of Contributors

SABINE RUDNIK-SCHÖNEBORN

Institute of Human GeneticsAachen University of TechnologyAachenGermanysrudnik-schoeneborn@ukaachen.de

GUENTER RUDOLPH

Eye ClinicLudwig-Maximilians-University MunichMunichGermany

ISABELLE L. RUEL

Institute on Nutraceuticals and Functional FoodsLaval UniversityQuébec, QCCanada

KLAUS RUETHER

Department of Ophtalmology, CVKCharitéBerlinGermanyklaus.ruether@charite.de

ROBERT RUFFOLO

Research and DevelopmentWyeth ResearchCollegeville, PAUSAruffolr@wyeth.com

RAINER RUPPRECHT

Department of PsychiatryLudwig-Maximilian-University MunichMunichGermanyRainer.Rupprecht@med.uni-muenchen.de

TOBIAS A. RUPPRECHT

Department of NeurologyLudwig-Maximilians-UniversityMunichGermanyTobias.Rupprecht@med.uni-muenchen.de

RICHARD L. SABINA

Medical College of WisconsinMilwaukee, WIUSAsabinar@mcw.edu

MARCUS D. SÄEMANN

Department of Internal Medicine IIIDivision of Nephrology and DialysisMedical University of ViennaViennaAustriamarcus.saemann@meduniwien.ac.at

SEZER SAGLAM

Department of Medical OncologyOncology InstituteIstanbul UniversityIstanbulTurkeysaglam@istanbul.edu.tr

GIUSEPPE SAGLIO

Department of Clinical and Biological SciencesUniversity of TurinS.Luigi HospitalTurinItalygiuseppe.saglio@unito.it

AMRIK SAHOTA

Nelson Laboratory, Department of GeneticsRutgers UniversityPiscataway, NJUSAsahota@biology.rutgers.edu

HARJOT K. SAINI

St. Boniface General Hospital Research CentreUniversity of ManitobaWinnipeg, MBCanada

SHIMON SAKAGUCHI

Department of Experimental PathologyInstitute for Frontier Medical SciencesKyoto UniversityKyotoJapanshimon@frontier.kyoto-u.ac.jp

KHASHAYAR SAKHAEE

Center for Mineral Metabolism and Clinical ResearchUniversity of Texas Southwestern Medical CenterDallas, TXUSAKhashayar.Sakhaee@utsouthwestern.edu

JORGE I. SALLUH

National Cancer InstituteRio de JaneiroBraziljorgesalluh@yahoo.com.br

RÉMI SALOMON

Service de Néphrologie PédiatriqueHôpital Necker-Enfants MaladesParisFrance

ULRICH SALZER

Department of Medicine, Division of Rheumatology andClinical ImmunologyUniversity Hospital FreiburgFreiburgGermanysalzer@medizin.ukl.uni-freiburg.de

List of Contributors lxxi

MILLIE SAMANIEGO

University of Wisconsin School of Medicine and PublicHealthMadison, WIUSAms1@medicine.wisc.edu

DIMITRIOS SAMONAKIS

SEDA SANCAK

Marmara University Medical SchoolIstanbulTurkeydrsedasancak@gmail.com

JEREMY SANDERSON

KONRAD SANDHOFF

LIMES Program Unit Membrane Biology and LipidBiochemistryKekulé InstituteBonn UniversityBonnGermanysandhoff@uni-bonn.de

ANNA SARKOZY

Department of Experimental MedicineUniversity La Sapienza and CSS-Mendel InstituteRomeItalya.sarkozy@css-mendel.it

NICHOLAS J. SARLIS

Department of Medical AffairsOncologyU.S. Pharma OpsSanofi-AventisBridgewater, NJUSAnjsarlis@helix.nih.gov

HIROKAZU SASAKI

Department of Emergency and Critical Care MedicineTokyo Medical UniversityShinjuku, TokyoJapanhsasaki@tokyo-med.ac.jp

JEAN MARIE SAUDUBRAY

Hôpital Necker Enfants-MaladesParisFranceElisabeth.saudubray@nck.aphp.fr

TILMAN SAUERBRUCH

Department of Internal Medicine IUniversity of BonnBonnGermanysauerbruch@uni-bonn.de

REGINALD S. SAUVE

MARTIN O. SAVAGE

RAVI SAVARIRAYAN

Genetic Health Services VictoriaMurdoch Children’s Research Institute and Department ofPediatricsUniversity of MelbourneMelbourne, VICAustralia

ANDREW J. SAXON

University of Washington School of Medicine and VeteransAffairs Puget Sound Health Care SystemSeattle, WAUSAandrew.saxon@va.gov

JOHN A. SAYER

Institute of Human GeneticsInternational Centre for LifeUniversity of Newcastle upon TyneNewcastle upon TyneUKj.a.sayer@newcastle.ac.uk

ANDROMACHI SCARADAVOU

Laboratory of Complement BiologyNew York Blood CenterNew York, NYUSAascaradavou@nybloodcenter.org

MARIO SCARTOZZI

Clinica di Oncologia MedicaUniversità Politecnica delle MarcheOspedali Riuniti Umberto I – GM Lancisi – G Salesi diAnconaAnconaItaly

FRANK SCHAEFFEL

Section Neurobiology of the EyeUniversity Eye HospitalTuebingenGermanyfrank.schaeffel@uni-tuebingen.de

lxxii List of Contributors

JULIE V. SCHAFFER

Department of DermatologyNew York University School of MedicineNew York, NYUSAjvschaffer@gmail.com

KARIN SCHARFFETTER-KOCHANEK

Department of Dermatology and AllergologyUniversity of UlmUlmGermanykarin.scharffetter-kochanek@medizin.uni-ulm.de

HUBERT SCHARNAGL

Clinical Institute of Medical and Chemical LaboratoryDiagnosticsMedical University of GrazGrazAustriaHubert.Scharnagl@klinikum-graz.at

INGRID E. SCHEFFER

Department of Medicine and PediatricsUniversity of MelbourneMelbourne, VICAustralia

UTE SCHEPERS

LIMES Institute Program Unit Membrane Biology & LipidBiochemistryKekulé-InstituteUniversity BonnBonnGermany

LAURENT SCHILD

Department of Pharmacology and ToxicologyLausanne UniversityLausanneSwitzerlandLaurent.Schild@unil.ch

OLIVER SCHILDGEN

Department of VirologyInstitute for Medical Microbiology, Immunology, andParasitologyBonnGermanyschildgen@mibi03.meb.uni-bonn.de

MEINHARD SCHILLER

Department of DermatologyUniversity MuensterMuensterGermanyschillm@uni-muenster.de

MARTIN SCHILLINGER

Department of Internal Medicine II, Division of AngiologyUniversity of Vienna, Medical SchoolViennaAustriamartin.schillinger@meduniwien.ac.at

WOLFGANG SCHILLINGER

Heart CenterUniversity GoettingenGoettingenGermanyschiwolf@med.uni-goettingen.de

SIMONE SCHIMPF

Molecular Genetics LaboratoryInstitute for Ophthalmic ResearchCentre for OphthalmologyUniversity of TuebingenTuebingenGermanySimone.Schimpf@uni-tuebingen.de

AREND F. L. SCHINKEL

Thoraxcenter, Department of CardiologyErasmus Medical Center RotterdamRotterdamThe Netherlandsarendschinkel@hetnet.nl

SVEN SCHINNER

Department of Endocrinology, Diabetes and RheumatologyUniversity Hospital DuesseldorfDuesseldorfGermany

ALBERT SCHINZEL

Institute of Medical GeneticsUniversity of ZurichZurichSwitzerlandschinzel@medgen.unizh.ch

ERWIN SCHLEICHER

Department of Internal MedicineDivision of Endocrinology, Angiology, Nephrology andClinical ChemistryUniversity Hospital TuebingenTuebingenGermany

FREIMUT SCHLIESS

Department of Gastroenterology, Hepatology andInfectiologyUniversity-HospitalHeinrich-Heine-UniversityDuesseldorfGermanyFreimut.Schliess@uni-duesseldorf.de

BERNHARD SCHMIDT

Department of BiochemistryGeorg-August-University GoettingenGoettingenGermany

HARTMUT SCHMIDT

University Hospital of MuensterMuensterGermanyhepar@ukmuenster.de

List of Contributors lxxiii

WOLFF SCHMIEGEL

Medical DepartmentRuhr-University BochumBochumGermanymeduni-kkh@ruhr-uni-bochum.de

MARCUS SCHMITT

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-UniversityDuesseldorfGermanyMarcus.Schmitt@uni-duesseldorf.de

STEFFEN SCHMITZ-VALCKENBERG

Institute of Ophthalmology and Moorfields Eye HospitalLondonUK

SUSANNE A. SCHNEIDER

Sobell Department of Motor Neuroscience and MovementDisordersInstitute of NeurologyLondonUKs.schneider@ion.ucl.ac.uk

SUSANNE SCHNITTGER

JOHN-JOHN B. SCHNOG

Department of Internal MedicineSlotervaart HospitalAmsterdamThe Netherlandsjbschnog@mac.com

HENDRIK P. N. SCHOLL

Department of OphthalmologyUniversity of BonnBonnGermanyhendrik.scholl@ukb.uni-bonn.de

JÜRGEN SCHÖLMERICH

Department of Internal Medicine IUniversity Medical Center RegensburgRegensburgGermanyjuergen.schoelmerich@klinik.uni-regensburg.de

LUDGER SCHÖLS

Department for Neurodegenerative DiseasesHertie-Institute for Clinical Brain Research and Centre forNeurologyTuebingenGermanyludger.schoels@uni-tuebingen.de

GUSTAV SCHONFELD

Washington University in St. Louis School of MedicineSt. Louis, MIUSAgschonfe@im.wustl.edu

BENEDIKT G. H. SCHOSER

Department of NeurologyFriedrich-Baur-InstituteLudwig-Maximilians University MunichMunichGermanybenedikt.schoser@med.uni-muenchen.de

RUTH SCHREIBER

Department of PediatricsSoroka University Medical CenterBeer ShevaIsrael

JOHANN MICHAEL SCHRÖDER

RWTH Aachen University HospitalAachenGermanyjmschroder@netcologne.de

ROLF SCHRÖDER

Department of NeurologyUniversity of BonnBonnGermanyrolf.schroeder@ukb.uni-bonn.de

EDWARD H. SCHUCHMAN

Department of Genetics and Genomic SciencesMount Sinai School of Medicine of New York UniversityNew York, NYUSA

REBECCA SCHÜLE

Department for Neurodegenerative DiseasesHertie-Institute for Clinical Brain Research and Centre forNeurologyTuebingenGermanyrebecca.schuele-freyer@med.uni-tuebingen.de

ULRICH S. SCHULER

Medical Clinic IUniversity Hospital DresdenDresdenGermanyUlrich.Schuler@uniklinikum-dresden.de

KARSTEN SCHULMANN

Medical DepartmentRuhr-University BochumBochumGermanykarsten.schulmann@rub.de

lxxiv List of Contributors

JAN SCHULTE AM ESCH

Department of General-, Visceral- and Pediatric SurgeryUniversity Hospital DuesseldorfHeinrich-Heine-UniversityDuesseldorfGermanyjan.schulteamesch@med.uni-duesseldorf.de

ANSGAR SCHULZ

University Children’s HospitalUniversity of UlmUlmGermany

HEIKE SCHULZE

LIMES Program Unit Membrane Biology and LipidBiochemistryKekulé InstituteBonn UniversityBonnGermany

JÖRG-DIETER SCHULZKE

Gastroenterology and InfectiologyCampus Benjamin FranklinCharitéBerlinGermanyjoerg.schulzke@charite.de

JOHANNES SCHUMACHER

Institute of Human GeneticsUniversity of BonnBonnGermanyjohannes.schumacher@uni-bonn.de

ULRIKE SCHUMACHER

Institute of Medical Microbiology and HygieneUniversity of TuebingenTuebingenGermany

KLAUS SCHÜMANN

Technical University MunichMunichGermanyKSchuemann@schuemann-muc.de

DETLEF SCHUPPAN

Division of Gastroenterology and HepatologyBeth Israel Deaconess Medical CenterHarvard Medical SchoolBoston, MAUSAdschuppa@bidmc.harvard.edu

ANDREA SCHUPPENIES

Medical Clinic IIIUniversity Hospital DresdenDresdenGermanyAndrea.Schuppenies@uniklinikum-dresden.de

BÄRBEL SCHÜTTE

Department of DermatologyUniversity of MuensterMuensterGermanyschuetb@mednet.uni-muenster.de

GESA SCHWANITZ

Institute of Human GeneticsUniversity of BonnBonnGermanyGesa.Schwanitz@ukb.uni-bonn.de

ELISABETH L. SCHWARZ

Department of Pathology and ARUP Institute for Clinical andExperimental PathologySalt Lake City, UTUSAschwarl@aruplab.com

JOHANNES SCHWARZ

Department of NeurologyUniversity of LeipzigLeipzigGermany

MARTIN SCHWARZ

Department of Gastroenterology, Hepatology andInfectiologyUniversity-HospitalHeinrich-Heine-UniversityDuesseldorfGermany

PETER E. H. SCHWARZ

Technical University DresdenMedical Clinic IIIDresdenGermanypeter.schwarz@uniklinikum-dresden.de

THOMAS SCHWARZ

Department of DermatologyUniversity Hospital of Schleswig-HolsteinCampus KielKielGermanytschwarz@dermatology.uni-kiel.de

FRITZ SCHWARZMANN

Institute of Medical MicrobiologyUniversity of RegensburgRegensburgGermany

NORBERT SCHWENZER

Department of Oral and Maxillofacial SurgeryEberhard-Karls-UniversityTuebingenGermany

List of Contributors lxxv

HEINRICH SCHWINDT

FRANCESCA SCIANDRA

CNR, Istituto di Chimica del Riconoscimento Molecolarec/o Istituto di Biochimica e Biochimica ClinicaUniversità Cattolica del Sacro CuoreRomeItalyfrancesca.sciandra@icrm.cnr.it

C. RONALD SCOTT

Division of Medical GeneticsUniversity of WashingtonSeattle, WAUSAcrscott@u.washington.edu

JOHN M. SCOTT

Department of BiochemistryTrinity College DublinDublinIrelandjscott@tcd.ie

WENDY M. SEALEY

Department of Biochemistry and Molecular BiologyUniversity of Arkansas for Medical SciencesLittle Rock, ARUSA

JENO SEBES

Saravanan Kasthury University of Tennessee Medical CenterMemphis, TNUSAjsebes@utmem.edu

RONNEN H. SEGMAN

Department of PsychiatryHadassah University HospitalJerusalemIsraelsronen@md.huji.ac.il

JENS SEILER

Swiss Cardiovascular Center BernUniversity HospitalBernSwitzerlandjens.seiler@insel.ch

BERTHOLD SEITZ

Department of OphthalmologyUniversity of SaarlandHomburg/SaarGermanyBerthold.Seitz@uniklinikum-saarland.de

ANGELO SELICORNI

Department of Pediatrics, Hematology, Oncology andEndocrinologyMedical University of GdanskGdanskPolandambulatorio@gencli.it

CARLO SELMI

Division of Rheumatology, Allergy and Clinical ImmunologyUniversity of California at DavisDavis, CAUSA

JOSEPH B. SELVANAYAGAM

Department of Cardiovascular MedicineFlinders Medical CentreBedford Park, SAAustraliajoseph.selvanayagam@cardiov.ox.ac.uk

ATILLA ŞENAYLI

Department of Pediatric SurgeryGaziosmanpaşa University School of MedicineTokatTurkey

SRIJITA SEN-CHOWDHRY

Inherited Cardiovascular Disease GroupThe Heart HospitalUniversity College London HospitalsNHS Trust and Institute of Cardiovascular ScienceUniversity College LondonLondonUKsrijita@aol.com

MARCO SENZOLO

Gastroenterology Unit, Liver Transplantation Unit,Department of Surgical and Gastroenterological SciencesUniversity Hospital of PaduaPaduaItalymarcosenzolo@hotmail.com

JOSE M. SERRATOSA

Department of NeurologyFundación Jiménez Díaz and Universidad Autónoma deMadridMadridSpainserratosa@telefonica.net

GEORGES SERRATRICE

Service de Neurologie et Maladies NeuromusculairesMarseilleFrancegserratrice@ap-hm.fr

lxxvi List of Contributors

CAROLINE A. SEWRY

Centre for Inherited Neuromuscular DisordersRobert Jones and Agnes Hunt Orthopedic and DistrictHospital NHS TrustOswestryUKc.sewry@imperial.ac.uk

MUAMMER SEYHAN

Department of DermatologyInonu UniversityMalatyaTurkeydrmseyhan@hotmail.com

ENGIN SEZER

Department of DermatologyGaziosmanpaşa University School of MedicineTokatTurkeyeseze@yahoo.com

ARTI N SHAH

Division of Cardiac ElectrophysiologyMount Sinai School of MedicineElmhurst Hospital CenterElmhurst, NYUSA

ARIEH Y. SHALEV

Department of PsychiatryHadassah University HospitalJerusalemIsraelashalev@cc.huji.ac.il

HUI SHAO

Department of Ophthalmology and Visual SciencesUniversity of LouisvilleLouisville, KYUSA

NAND LAL SHARMA

Department of DermatologyVenereology & Leprosy Indira Gandhi Medical CollegeShimlaIndianandlals@hotmail.com

SUMEET K. SHARMA

The University of Texas/Houston Medical SchoolChildren’s Memorial Hermann HospitalHouston, TXUSASumeet.K.Sharma@uth.tmc.edu

YOGESH M. SHASTRI

Department of Medicine IZAFESJ. W. Goethe-University HospitalFrankfurtGermanydrshastri@gmail.com

ROBERT S. SHELDON

Libin Cardiovascular Institute of AlbertaThe University of CalgaryCalgary, ABCanada

WATARU SHIMIZU

Division of Cardiology, Department of Internal MedicineNational Cardiovascular CenterSuita, OsakaJapanwshimizu@hsp.ncvc.go.jp

OSAMU SHIMOKAWA

Kyusyu Medical Science Nagasaki LaboratoryNagasakiJapan

YOON S. SHIN

Children’s HospitalUniversity of MunichMunichGermanyshin@kk-i.med.uni-muenchen.de

TAKAHIRO SHINKAI

Department of PsychiatryUniversity of Occupational and Environmental HealthKitakyushuJapanshinkai@med.uoeh-u.ac.jp

HARUO SHINTAKU

Department of PediatricsOsaka City University Graduate School of MedicineOsakaJapanshintakuh@med.osaka-cu.ac.jp

MASAAKI SHIOHARA

Department of PediatricsShinshu University, School of MedicineMatsumotoJapanshiohara@hsp.md.shinshu-u.ac.jp

ANUSHREE C. SHIRALI

Department of Internal MedicineSection of NephrologyYale University School of MedicineNew Haven, CTUSAacs82@email.med.yale.edu

VORASUK SHOTELERSUK

Division of Medical Genetics and MetabolismDepartment of PediatricsChulalongkorn UniversityBangkokThailandvorasuk.s@chula.ac.th

List of Contributors lxxvii

WEINIAN SHOU

Department of Pediatrics, Biochemistry and MolecularBiologyIndiana University School of MedicineHerman B Wells Center for Pediatric ResearchIndianapolis, INUSAwshou@iupui.edu

KENNETH R. SHROYER

Departments of Dermatology and PathologyUniversity of Colorado School of MedicineDenver, COUSA

ERIC SIBLEY

Division of Pediatric GastroenterologyStanford University School of MedicineStanford, CAUSAerc@stanford.edu

REINER SIEBERT

Institute of Human GeneticsUniversity Hospital Schleswig-HolsteinCampus KielKielGermanyrsiebert@medgen.uni-kiel.de

SÖREN V. SIEGMUND

Department of Medicine II (Gastroenterology, Hepatologyand Infectious Diseases)University Hospital of HeidelbergMannheimGermanysvs2101@columbia.edu

ROSWITHA SIENER

Department of UrologyUniversity of BonnBonnGermanyRoswitha.Siener@ukb.uni-bonn.de

MATTHIAS SIEPE

Department of Cardiovascular SurgeryUniversity Medical Center FreiburgFreiburgGermanymatthias.siepe@uniklinik-freiburg.de

CAROLINE SILVE

INSERMUniversity of ParisParisFrancesilve@bichat.inserm.fr

GABRIELLA SILVESTRI

Department of NeuroscienceCatholic UniversityRomeItalygsilvestri@rm.unicatt.it

H. ANNE SIMMONDS

Purine Research UnitGuy’s HospitalKing’s CollegeLondonUKanne.simmonds@kcl.ac.uk

CHRISTIAN SIMON

Department of Otolaryngology–Head and Neck SurgeryRuprecht-Karls-UniversityHeidelbergGermanycsimon1407@aol.com

JANA ŠÍMOVÁ

Department of Tumour ImmunologyInstitute of Molecular GeneticsAcademy of Sciences of the Czech RepublicPragueCzech Republicjsima@img.cas.cz

JOHN SIMPSON

Department of General SurgeryUniversity HospitalNottinghamUKJ.Simpson@nottingham.ac.uk

ANCA SINDRILARU

MANFRED V. SINGER

Department of Medicine II (Gastroenterology, Hepatologyand Infectious Diseases)University Hospital of HeidelbergMannheimGermanyv.singer@med.ma.uni-heidelberg.de

BRAMAH N. SINGH

Division of CardiologyVeterans Affairs Greater Los Angeles Healthcare System andThe David Geffen School of Medicine at UCLALos Angeles, CAUSAbsingh@ucla.edu

HARPREET SINGH

UPINDERPAL SINGH

Department of Physical Medicine and RehabilitationAll India Institute of Medical SciencesNew DelhiIndiausingh@aiims.ac.in

lxxviii List of Contributors

SANDRA SIRRS

Vancouver Hospital and Health Sciences CentreVancouver, BCCanadasandra.sirrs@vch.ca

ERIK A. SISTERMANS

VU University Medical CentreAmsterdamThe Netherlandse.sistermans@vumc.nl

CHRISTINE SKERKA

Department of Infection BiologyLeibniz Institute for Natural Products Research and InfectionBiologyJenaGermanychristine.skerka@hki-jena.de

MARC SLAWIK

Medical ClinicLudwig-Maximilians-UniversityMunichGermany

AUGUST H. M. SMELT

Department of General Internal MedicineLeiden University Medical CenterLeidenThe NetherlandsA.H.M.Smelt@lumc.nl

A. GORDON SMITH

Department of NeurologyUniversity of Utah School of MedicineSalt Lake City, UTUSAgordon.smith@hsc.utah.edu

EMILY SMITH

La Jolla Institute for Allergy and Immunology Division ofInflammation BiologyLa Jolla, CAUSA

M. IAIN SMITH

Department of MedicineUniversity of Virginia School of MedicineCharlottesville, VAUSA

ERIC A. SOBIE

Pharmacology and Systems TherapeuticsMount Sinai School of MedicineNew York, NYUSAeric.sobie@mssm.edu

LUBOMIR SOKOL

Division of Malignant HematologyDepartment of Interdisciplinary OncologyH. Lee Moffitt Cancer Center and Research InstituteUniversity of South FloridaTampa, FLUSAlubomir.sokol@moffitt.org

GÖKSEL SOMAY

Department of NeurologyHaydarpaşa Numune Educational and Research HospitalIstanbulTurkeygsomay@hotmail.com

WILLIAM J. SPEAKE

Department of General SurgeryUniversity HospitalNottinghamUK

JO SPENCER

Division of Immunology, Infection & InflammationImmunobiology DepartmentKings CollegeLondonUK

ANNE-DORTE SPERFELD

Department of NeurologyUniversity of UlmUlmGermanyanne-dorte.sperfeld@uni-ulm.de

ODED SPERLING

Department of Human Molecular Genetics and BiochemistryTel Aviv UniversityRamat-AvivIsraelodeds@post.tau.ac.il

SONJA STÄNDER

Department of DermatologyUniversity Hospital of MuensterMuensterGermanysonja.staender@uni-muenster.de

NICOLE STANKUS

Department of NephrologyUniversity of ChicagoChicago, ILUSAnstankus@medicine.bsd.uchicago.edu

ROLAND STAUD

University of FloridaGainesville, FLUSASTAUDRM@medicine.ufl.edu

List of Contributors lxxix

ANDREW C. STEER

Centre for International Child HealthDepartment of PediatricsUniversity of MelbourneMelbourne, VICAustraliaandrew.steer@rch.org.au

IOANNIS STEFANIDIS

Department of Nephrology, Medical SchoolUniversity of ThessalyLarissaGreecestefanid@med.uth.gr

JÜRGEN M. STEIN

Department of Medicine IZAFESJ. W. Goethe-University HospitalFrankfurtGermanyJ.Stein@em.uni-frankfurt.de

DANIELA STEINBERGER

BioscientiaCenter for Human GeneticsIngelheimGermanyDaniela.Steinberger@bioscientia.de

ORTRUD K. STEINLEIN

Ludwig-Maximilians-University of Munich School ofMedicineInstitute of Human GeneticsMunichGermanyOrtrud.Steinlein@med.uni-muenchen.de

ULRICH STEPHANI

Clinics for Neuropediatrics of Kiel UniversityKielGermanystephani@pedneuro.uni-kiel.de

SUNCANICA LJUBIN STERNAK

Department of VirologyCollaborating Centre WHO for VirologyCroatian National Institute of Public HealthZagrebCroatiasljsternak@hzjz.hr

GERALD STÖBER

Department of Psychiatry and PsychotherapyUniversity of WuerzburgWuerzburgGermanystoeber_g@klinik.uni-wuerzburg.de

EGGERT STOCKFLETH

Department of DermatologySkin Cancer Center CharitéUniversity Hospital of BerlinBerlinGermanyE.Stockfleth@web.de

SYLVIA STÖCKLER-IPSIROGLU

Biochemical Genetics and National Neonatal ScreeningLaboratories Department of General PediatricsUniversity Children’s Hospital ViennaViennaAustriastoeckler@metabolic-screening.at

CLAUDE STOLL

Laboratoire de Génétique MédicaleFaculté de MédecineStrasbourgFranceClaude.Stoll@medecine.u-strasbg.fr

GUIDO STOLL

Department of NeurologyUniversity of WuerzburgWuerzburgGermanyStoll_G@klinik.uni-wuerzburg.de

JAMES K. STOLLER

Department of Pulmonary and Critical Care MedicineSection of Respiratory TherapyCleveland Clinic Lerner College of MedicineCleveland, OHUSAstollej@ccf.org

GISELA STOLTENBURG-DIDINGER

Institute of NeuropathologyCampus CharitéBerlinGermanygisela.stoltenburg@charite.de

MARVIN J. STONE

Baylor Sammons Cancer CenterBaylor University Medical CenterDallas, TXUSAmarvins@baylorhealth.edu

ALEXANDER STORCH

Department of NeurologyTechnical University of DresdenDresdenGermanyalexander.storch@neuro.med.tu-dresden.de

BJÖRN STORK

Department of Internal Medicine IUniversity of TuebingenTuebingenGermanybjoern.stork@med.uni-tuebingen.de

lxxx List of Contributors

CONSTANTINE STRATAKIS

Program on Developmental Endocrinology & GeneticsNational Institute of Child Health and Human DevelopmentBethesda, MDUSAstratakc@cc1.nichd.nih.gov

MICHAEL STRAUB

Department of Urology and Pediatric UrologyUrolithiasis Research GroupUniversity of UlmUlmGermanymichael.straub@uni-ulm.de

ERICH C. STRAUSS

Gladstone Institute of Virology and ImmunologyUniversity of CaliforniaSan Francisco, CAUSAstrauss@itsa.ucsf.edu

OLAF STRAUSS

Experimental OphthalmologyDepartment of OphthalmologyUniversity of RegensburgRegensburgGermanyo.strauss@uke.uni-hamburg.de

EUGEN-MATTHIAS STREHLE

Neuromuscular GeneticsInternational Centre for LifeNewcastle upon TyneUKstrehle@doctors.org.uk

ROBERT M. STRIETER

Department of MedicineUniversity of Virginia School of MedicineCharlottesville, VAUSARMS4W@hscmail.mcc.virginia.edu

MICHAEL STRUPP

Department of NeurologyLudwig-Maximilians-UniversityKlinikum GroßhadernMunichGermanymichael.strupp@med.uni-muenchen.de

MICHAEL STÜRZL

Division of Molecular and Experimental SurgeryDepartment of SurgeryUniversity of Erlangen-NurembergErlangenGermanyMichael.Stuerzl@chir.imed.uni-erlangen.de

HELEN C. SU

Molecular Development SectionLaboratory of ImmunologyNIAID, NIHBethesda, MDUSAhsu@niaid.nih.gov

HOLGER SUDHOFF

Department of Otorhinolaryngology/Head and Neck SurgeryUniversity of BochumBochumGermanyholger.sudhoff@rub.de

PETER H. SUGDEN

NHLI Division, Faculty of MedicineImperial College LondonLondonUK

RICHARD J. SUGRUE

Division of Molecular and Cell BiologySchool of Biological SciencesNanyang Technological UniversitySingaporeRJSugrue@ntu.edu.sg

ELEANOR M. SUMMERHILL

Warren Alpert Medical School at Brown UniversityProvidence, RIUSA

DEMING SUN

Department of Ophthalmology and Visual SciencesUniversity of LouisvilleLouisville, KYUSA

CORD SUNDERKÖTTER

Department of DermatologyUniversity Hospital of MuensterMuensterGermanycord.sunderkoetter@ukmuenster.de

MANISH SUNEJA

Division of NephrologyDepartment of Internal MedicineUniversity of Iowa College of MedicineIowa City, IAUSAmanish-suneja@uiowa.edu

TIINA SUOMINEN

NeurogeneticsUniversity of TampereTampereFinlandtiina.suominen@uta.fi

List of Contributors lxxxi

KANYA SUPHAPEETIPORN

Division of Medical Genetics and MetabolismDepartment of PediatricsChulalongkorn UniversityBangkokThailand

SANKAR SURENDRAN

Internal MedicineThe University of Texas Medical BranchGalveston, TXUSAsankar_surendran@yahoo.com

CHITRA SURI

Westchester Community CollegeValhalla, NYUSAchitrasuri@verizon.net

MILLICENT SUTTON

Laboratory of Complement BiologyNew York Blood CenterNew York, NYUSA

KUNIHIKO SUZUKI

Neuroscience CenterUniversity of North Carolina School of MedicineChapel Hill, NCUSAkuni.suzuki@attglobal.net

YOICHI SUZUKI

Department of Medical GeneticsTohoku University School of MedicineSendaiJapanysuzuki@mail.tains.tohoku.ac.jp

EHTESHAMUDIN SYED

Division of Nephrology and HypertensionFeinberg School of MedicineNorthwestern UniversityChicago, ILUSA

JACOB I. SZNAJDER

Division of Pulmonary and Critical CareFeinberg School of MedicineNorthwestern UniversityChicago, ILUSA

KEIYA TADA

Departments of Pediatrics and Medical GeneticsTohoku University School of MedicineSendaiJapan

AKIHIRO TAKATSU

Department of Forensic MedicineJikei University School of MedicineTokyoJapantakatsu@jikei.ac.jp

FILIPPO TAMANINI

Department of Cell Biology and GeneticsCenter for Biomedical GeneticsErasmus University Medical CenterRotterdamThe Netherlandsf.tamanini@erasmusmc.nl

MOTOKO TANAKA

Department of NephrologyAkebono ClinicKumamotoJapantanaka@matusita-kai.or.jp

LAURA M. TANNER

Department of PediatricsTurku University HospitalTurkuFinlandlamaer@utu.fi

AYALEW TEFFERI

Division of HematologyMayo Clinic College of MedicineRochester, MNUSAtefferi.ayalew@mayo.edu.

BIN SING TEH

Department of Radiology/Radiation OncologyBaylor College of Medicine and The Methodist HospitalHouston, TXUSA

BIN TEAN TEH

Laboratory of Cancer GeneticsVan Andel Research InstituteGrand Rapids, MIUSABin.Teh@vai.org

JAIME TEJEDOR

Department of OphthalmologyHospital Ramón y CajalMadridSpainjtejedor.hrc@salud.madrid.org

CEVAHIR TEKCAN

Barbaros Mh. Başkan Sk. Özlem Sit.KoşuyoluIstanbulTurkeycevahirt@superonline.com

lxxxii List of Contributors

HUGO TEN CATE

Laboratory for Clinical Thrombosis and HemostasisDepartment of Internal MedicineMaastricht UniversityMaastrichtThe NetherlandsH.Tencate@BIOCH.Unimaas.nl

HARRIET S. TENENHOUSE

Department of Human GeneticsMontreal Children’s Hospital Research InstituteMcGill UniversityMontreal, QCCanadamdht@www.debelle.mcgill.ca

HIROKI TERAGAWA

Department of Medicine and Molecular ScienceGraduate School of Biomedical SciencesHiroshima UniversityHiroshimaJapanhteraga@hiroshima-u.ac.jp

VLADIMIR TESAR

Department of NephrologyCharles UniversityPragueCzech Republictesarv@beba.cesnet.cz

ULRICH THALHEIMER

KUMARASAMY THANGARAJ

Centre for Cellular and Molecular BiologyHyderabadIndiathangs@ccmb.res.in

MANISH THAPAR

Division of Gastroenterology and HepatologyUniversity of MissouriColumbia, MOUSA

TANYA THIAGARAJAH

Learning Disability ServiceNHS LothianEdinburghUK

HAGEN THIEME

Department of OphthalmologyJohannes-Gutenberg-University MainzMainzGermanythieme@augen.klinik.uni-mainz.de

JAMES B. THODEN

Department of BiochemistryUniversity of WisconsinMadison, WIUSA

CHRISTIE P. THOMAS

Division of Nephrology, Department of Internal MedicineUniversity of Iowa College of MedicineIowa City, IAUSAchristie-thomas@uiowa.edu

ALLAN D. THOMSON

Molecular Psychiatry Laboratory, Windeyer Institute ofMedical SciencesDepartment of Psychiatry and Behavioural SciencesRoyal Free and University College LondonLondon Medical SchoolLondonUK

DAVID J. TIMSON

School of Biological SciencesQueen’s University BelfastMedical Biology CentreBelfastUKd.timson@qub.ac.uk

VALERIA TIRANTI

Unit of Molecular NeurogeneticsPierfranco and Luisa Mariani Center for the Study ofChildren’s Mitochondrial DisordersIRCCS Foundation Neurological Institute“CBesta”MilanItalytiranti@istituto-besta.it

JAY A. TISCHFIELD

Nelson Laboratory, Department of GeneticsRutgers UniversityPiscataway, NJUSA

CHEE-KEONG TOH

Department of Medical OncologyNational Cancer CentreSingaporeSingaporeck.toh.nccs@gmail.com

YARON TOMER

Division of EndocrinologyUniversity of CincinnatiCincinnati, OHUSA

RADE TOMIC

Department of MedicineAtlanta VA Medical CenterAtlanta, GAUSA

List of Contributors lxxxiii

JOEL MICHELS TOPF

Chronic Kidney Disease ClinicsDetroit, MIUSAjoel.topf@gmail.com

HARRYS A. TORRES

Department of Infectious DiseasesInfection Control and Employee HealthThe University of Texas M. D. Anderson Cancer CenterHouston, TXUSA

JEAN-NICOLAS TOURNIER

Unité Interactions Hôte-PathogèneDépartement de Biologie des Agents TransmissiblesCentre de Recherches du Service de Santé des ArméesLa TroncheFrancejntournier@gmail.com

MARY I. TOWNSLEY

Department of Physiology and the Center for Lung BiologyUniversity of South Alabama College of MedicineMobile, ALUSAmtownsley@usouthal.edu

KLAUS V. TOYKA

Department of Neurology and Clinical Research Group forMS and NeuroimmunologyUniversity of WuerzburgWuerzburgGermanykv.toyka@uni-wuerzburg.de

MARIA GRAZIA TOZZI

Department of BiologyUniversity of PisaPisaItaly

MICHAEL TRAUNER

Division of Gastroenterology and HepatologyMedical University of GrazGrazAustriamichael.trauner@meduni-graz.at

HEIKO TRAUPE

Department of DermatologyUniversity Hospital of MuensterMuensterGermany

FRANCO TREVISANI

Dipartimento di Medicina Interna, Cardioangiologia,EpatologiaAlma Mater Studiorum Università di BolognaBolognaItaly

KATHY TRIANTAFILOU

Infection and Immunity GroupSchool of Life SciencesUniversity of SussexBrightonUKk.triantafilou@sussex.ac.uk

CHRISTOS TRIANTOS

ROSARIO RICH TRIFILETTI

Department of Pediatrics and NeurologyMorristown Memorial Hospital Atlantic Health SystemMorristown, NJUSA

BARBARA L. TRIGGS-RAINE

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, MBCanadatraine@ms.umanitoba.ca

FRANCESCO TROTTA

Section of RheumatologyDepartment of Clinical and Experimental MedicineUniversity of Ferrara Medical SchoolFerraraItalytrf@unife.it

TERENCE K. TROW

Pulmonary Hypertension CenterYale University School of MedicineNew Haven, CTUSAtktrow1@netzero.net

HAN-MOU TSAI

Division of HematologyMontefiore Medical Center and Albert Einstein College ofMedicineNew York, NYUSAhtsai@montefiore.org

CARSTEN TSCHÖPE

Center for Cardiovascular ResearchCharitéBerlinGermanyctschoepe@yahoo.com

HAYRETTIN TUMANI

Department of NeurologyUniversity of UlmUlmGermanyhayrettin.tumani@uni-ulm.de

lxxxiv List of Contributors

BENJAMIN D. TYRRELL

Division of CardiologyWalter Mackenzie CenterUniversity of AlbertaEdmonton, ABCanada

BJARNE UDD

Department of Medical GeneticsVaasa Central HospitalUniversity of HelsinkiHelsinkiFinlandbjarne.udd@vshp.fi

ANSELM UEBING

Adult Congenital Heart Disease UnitRoyal Brompton and Harefield NHS TrustLondonUKa.uebing@rbh.nthames.nhs.uk

TAKESHI UEHARA

Department of Laboratory MedicineShinshu University School of MedicineMatsumotoJapan

SEMA UGURALP

Department of Pediatric SurgeryTurgut Ozal Medical CenterInonu UniversityMalatyaTurkeysuguralp@inonu.edu.tr

JOHANNES UHL

Scil Proteins Production GmbHHalleGermany

JOUNI UITTO

Department of Dermatology and Cutaneous BiologyJefferson Medical CollagePhiladelphia, PAUSAJouni.Uitto@jefferson.edu

MANGAJJI R. UMAPATHI

Maternity and Child Welfare CenterKanjhawalaNew DelhiIndia

ALEXANDER UNRATH

Department of NeurologyUniversity of UlmUlmGermany

IRIS UNTERBERGER

Department of NeurologyMedical University of InnsbruckInnsbruckAustriairis.unterberger@i-med.ac.at

ROBERT J. UNWIN

Centre for Nephrology and Department of PhysiologyRoyal Free and University College Medical SchoolUniversity College LondonLondonUKrobert.unwin@ucl.ac.uk

ZSOLT URBAN

Departments of Pediatrics and GeneticsWashington University School of MedicineSt. Louis, MOUSAurban_z@kids.wustl.edu

INA L. URBATSCH

Department of Cell Biology and BiochemistryTexas Tech University Health Sciences CenterLubbock, TXUSAIna.urbatsch@ttuhsc.edu

JANET Y. URIU-ADAMS

Department of NutritionUniversity of California at DavisDavis, CAUSAjyuriuadams@ucdavis.edu

HOPE E. URONIS

Medicine, Pharmacology and Cancer BiologyDuke UniversityDurham, NCUSAuroni001@mc.duke.edu

JOCHEN UTIKAL

Department of Dermatalogy, Venereology and AllergologyUniversity Medical Centre MannheimRuprechts-Karls-University of HeidelbergMannheimGermanyjochen.utikal@haut.ma.uni-heidelberg.de

ANDREA L. UTZ

Neuroendocrine UnitMassachusetts General HospitalBoston, MAUSAAUtz@partners.org

GABRIEL I. UWAIFO

Division of EndocrinologyUniversity of Mississippi Medical CenterJackson, MSUSA

List of Contributors lxxxv

MARIO VACCARO

Institute of DermatologyPoliclinico UniversitarioMessinaItalyMario.Vaccaro@unime.it

MARIZ VAINZOF

Human Genome Research CenterDepartment of Genetics and Evolutionary BiologyInstitute of BiosciencesUniversity of São PauloSão PauloBrazil

MARIAN VALKO

Faculty of Chemical and Food TechnologySlovak Technical UniversityBratislavaSlovakiamarian.valko@stuba.sk

GERT VAN ASSCHE

Division of GastroenterologyUniversity Hospital LeuvenLeuvenBelgiumgert.vanassche@uz.kuleuven.ac.be

BRUNO VANDE BERG

Departments of Nephrology and RadiologyCliniques Universitaires Saint-LucBrusselsBelgiumVandeberg@rdgn.ucl.ac.be

GEORGES VAN DEN BERGHE

University of LeuvenLeuvenBelgiumGeorges.Vandenberghe@uclouvain.be

GER J. VAN DER VUSSE

Cardiovascular Research InstituteMaastricht UniversityMaastrichtThe Netherlandsvandervusse@fys.unimaas.nl

HANNEKE M. VAN DER STRAATEN

Department of HaematologyUniversity Medical Center UtrechtUtrechtThe NetherlandsH.M.vanderStraaten@umcutrecht.nl

WIM VAN HUL

Department of Medical GeneticsUniversity and University Hospital of AntwerpAntwerpBelgiumwim.vanhul@ua.ac.be

PETER VON DEN DRIESCH

Center for Skin DiseasesDepartment of Dermatology and AllergologyStuttgart ClinicStuttgartGermanyPdriesch@kbc-intern.de

CARLA VAN DER KALLEN

Laboratory of Metabolism and Vascular MedicineUniversity of MaastrichtMaastrichtThe NetherlandsC.vanderKallen@INTMED.unimaas.nl

ALBERT H. VAN GENNIP*Laboratory of Biochemical Genetics, Clinical Genetics CenterMaastricht University Medical CenterMaastrichtThe Netherlands

ANDRÉ B. P. VAN KUILENBURG

Laboratory for Genetic Metabolic DiseasesAcademic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlandsa.b.vankuilenburg@amc.uva.nl

TOIN H. VAN KUPPEVELT

Department of Matrix BiochemistryNijmegen Centre for Molecular Life SciencesNijmegenThe Netherlandsa.vankuppevelt@ncmls.ru.nl

GEERT VAN LOO

Department of Molecular BiologyGhent University, ZwijnaardeGhentBelgium

BARBARA C. VAN MUNSTER

Department of Clinical Epidemiology and BiostatisticsAcademic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlandsb.c.vanmunster@amc.uva.nl

MAURICE A. M. VAN STEENSEL

Department of DermatologyUniversity Hospital MaastrichtMaastrichtThe Netherlandsmauricevansteensel@mac.com

FILIP VANHOENACKER

* deceased

lxxxvi List of Contributors

SERGIO L. VARGAS

University of Chile School of MedicineSantiagoChilesvargas@med.uchile.cl

MANISH KUMAR VARSHNEY

Department of OrthopedicsAll India Institute of Medical SciencesNew DelhiIndia

NOSRATOLA D. VAZIRI

Division of Nephrology and HypertensionUCI Medical CenterIrvine, CAUSAndvaziri@uci.edu

LEO F. VERDONCK

Department of HaematologyUniversity Medical Center UtrechtUtrechtThe NetherlandsL.F.Verdonck@azu.nl

NATHALIE VERGNOLLE

Department of Pharmacology and TherapeuticsThe University of CalgaryCalgary, ABCanadanvergnol@ucalgary.ca

ESSI VIDING

Department of PsychologyUniversity CollegeLondonUKe.viding@ucl.ac.uk

MIIKKA VIKKULA

Laboratory of Human Molecular GeneticsChristian de Duve Institute of Cellular PathologyUniversité Catholique de LouvainBrusselsBelgiumvikkula@bchm.ucl.ac.be

ANNA VILLA

CNR-Istituto Tecnologie BiomedicheMilanItalyanna.villa@itb.cnr.it

ANGELA VINCENT

Weatherall Institute of Molecular MedicineJohn Radcliffe HospitalOxfordUKangela.vincent@imm.ox.ac.uk

MARCO VINCETI

Department of Public Health SciencesUniversity of Modena and Reggio EmiliaModenaItaly

JOHN VISSING

Neuromuscular Clinic and Research UnitDepartment of NeurologyNational University HospitalCopenhagenDenmarkjohn.vissing@rh.regionh.dk

NICHOLAS J. VOGELZANG

Nevada Cancer InstituteLas Vegas, NYUSA

RAINER VOISARD

Department of Internal Medicine II – CardiologyUniversity of UlmUlmGermanyrainer.voisard@uni-ulm.de

LUCA VOLTERRANI

Department of RadiologyUniversity of SienaSienaItalyvolterrani@unisi.org

STEPHAN VOM DAHL

Department of Internal MedicineSt. Franziskus-Hospital, Academic Teaching HospitalUniversity of CologneCologneGermanystephan.vomdahl@st-franziskus-koeln.de

CHRISTINE A.F. VON ARNIM

Department of NeurologyUlm UniversityUlmGermanychristine.arnim@uni-ulm.de

YSKERT VON KODOLITSCH

Heartcenter, CardiologyUniversity Hospital Hamburg-EppendorfHamburgGermanykodolitsch@uke.de

CAROLINA VON REITZENSTEIN

Mannheim University of Applied ScienceInstitut für Instrumentelle Analytik und BioanalytikMannheimGermanyc.reitzenstein@hs-mannheim.de

List of Contributors lxxxvii

KURT VON FIGURA

Department of BiochemistryGeorg-August-University GoettingenGoettingenGermanykfigura@gwdg.de

GERD E. VON UNRUH

Department of Internal MedicineUniversity of BonnBonnGermanyGerd.von_Unruh@ukb.uni-bonn.de

SÖNKE VON WEIHE

Department of General-, Visceral- and Pediatric SurgeryUniversity Hospital DuesseldorfHeinrich-Heine-UniversityDuesseldorfGermanysoenke.vonweihe@med.uni-duesseldorf.de

FRANÇOISE VUILLIER

Unité d’Immuno-Hématologie et d’ImmunopathologieInstitut PasteurParisFrancevuillier@pasteur.fr

MARTIN WABITSCH

Division of Pediatric Endocrinology and DiabetesUniversity of UlmUlmGermanymartin.wabitsch@uniklinik-ulm.de

HANS WADENVIK

Hematology SectionDepartment of Internal MedicineSahlgrenska University HospitalGothenburgSwedenhans.wadenvik@medic.gu.se

NITIN WADHANI

ANTON J. M. WAGENMAKERS

School of Sport and Exercise SciencesUniversity of BirminghamBirminghamUKa.wagenmakers@bham.ac.uk

CARSTEN A. WAGNER

Institute of Physiology and Zurich Center for IntegrativeHuman PhysiologyUniversity of ZurichZurichSwitzerlandWagnerca@access.unizh.ch

JEFFREY C. WAGNER

Department of NeurologyUniversity of Utah School of MedicineSalt Lake City, UTUSAJeffrey.wagner@hsc.utah.edu

SIEGFRIED WALDEGGER

University Children’s HospitalPhillips UniversityMarburgGermanysiegfried.waldegger@mailer.uni-marburg.de

MARGARET R. WALLACE

Department of Molecular Genetics and MicrobiologyUniversity of FloridaGainesville, FLUSApeggyw@ufl.edu

CARINA WALLGREN-PETTERSSON

Departments of Medical GeneticsUniversity of Helsinki and FolkhälsanHelsinkiFinlandcarina.wallgren@helsinki.fi

GERD WALZ

Department of NephrologyUniversity Medical Center FreiburgFreiburgGermanygerd.walz@uniklinik-freiburg.de

RONALD J. A. WANDERS

Laboratory of Genetic Metabolic DisordersAcademic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlandsr.j.wanders@amc.uva.nl

DONG WANG

Colleen Giblin Laboratories for Pediatric Neurology ResearchDepartment of NeurologyColumbia UniversityNew York, NYUSA

PING WANG

The Feinstein Institute for Medical ResearchManhasset, NYUSApwang@nshs.edu

XINKANG WANG

Wyeth ResearchDiscovery Translational MedicineCollegeville, PAUSA

lxxxviii List of Contributors

DEIRDRE WARD

Inherited Cardiovascular Disease GroupThe Heart HospitalUniversity College London HospitalsNHS Trust and Institute of Cardiovascular ScienceUniversity College LondonLondonUK

MATTHEW L. WARMAN

Department of Genetics and Center for Human GeneticsCase School of MedicineCleveland, OHUSAmlw14@case.edu

HIROSHI WATANABE

Division of Clinical PharmacologyDepartments of Medicine and PharmacologyVanderbilt University School of MedicineNashville, TNUSAHiroshi.watanabe@vanderbilt.edu

TIMOTHY WATSON

Hemostasis, Thrombosis and Vascular Biology UnitUniversity Department of Medicine, City HospitalBirminghamUKtabib@clara.co.uk

CHRISTOPH K. WEBER

Department of GastroenterologyClinic SonnenhofBernSwitzerlandchristoph.weber@uni-ulm.de

RAINER WEBER

Department of OtorhinolaryngologyKlinikum KarlsruheKarlsruheGermanyhno@klinikum-karlsruhe.de

STEFANIE WEBER

Laboratory for Molecular GeneticsDepartment for Pediatric NephrologyChildren’s University HospitalHeidelbergGermanysteffi_weber_privat@web.de

YVONNE G. WEBER

Department of Neurology of the University of UlmZentrum für Klinische ForschungUlmGermanyyvonne.weber@uni-ulm.de

PETRA WECKERLE

University Eye Hospital TuebingenTuebingenGermanypetra.weckerle@med.uni-tuebingen.de

JEANNE Y. WEI

University of Arkansas for Medical Sciences, GRECC andCAVHSLittle Rock, ARUSAWeijeanne@uams.edu

JULIA WEIHRAUCH

Department of DermatologyUniversity CologneCologneGermany

TRACEY WEILER

Division of RheumatologyCincinnati Children’s Hospital Medical CentreCincinnati, OHUSATracey.Weiler@cchmc.org

DAVID A. WEINSTEIN

Division of Pediatric EndocrinologyUniversity of Florida College of MedicineGainsville, FLUSA

LEE S. WEINSTEIN

Metabolic Diseases BranchNational Institute of Diabetes, Digestive, and KidneyDiseasesNational Institutes of HealthBethesda, MDUSAleew@amb.niddk.nih.gov

JEFFREY P. WEISS

Department of UrologyWeill Medical College of Cornell UniversityNew York, NYUSA

GÜNTER WEISS

Department of Internal Medicine IMedical UniversityInnsbruckAustria

WILLIAM J. WELCH

Department of MedicineGeorgetown UniversityWashington, DCUSAwelchw@georgetown.edu

MICHAEL WELLER

Department of NeurologyUniversity Hospital ZurichZurichSwitzerlandmichael.weller@uni-tuebingen.de

List of Contributors lxxxix

KATRIN WELT

Department of Dermatology and AllergologyUniversity of UlmUlmGermany

SHARON L. WENGER

Department of PathologyWest Virginia UniversityMorgantown, WVUSAswenger@hsc.wvu.edu

MATTHIAS WENNING

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-UniversityDuesseldorfGermanyMatthias.Wenning@uni-duesseldorf.de

SEBASTIAN WESSELBORG

Department of Internal Medicine IUniversity of TuebingenTuebingenGermanysebastian.wesselborg@uni-tuebingen.de

ANDY WESSELS

Department of Cell Biology and AnatomyCardiovascular Developmental Biology CenterMedical University of South CarolinaCharleston, SCUSAwesselsa@musc.edu

RAINER WESSELY

Heart CenterMarienhospitalOsnabrueckGermanyrwessely@web.de

DIRK WESTERMANN

Center for Cardiovascular ResearchCharitéBerlinGermanydirk.westermann@web.de

MATTHIAS WETTSTEIN

Internal Medicine IPassau HospitalPassauGermanymatthias.wettstein@web.de

DAVID C. WHITCOMB

Division of Gastroenterology,Hepatology and NutritionUniversity of PittsburghPittsburgh, PAUSAwhitehrp@musc.edu

ROBERT P. WHITEHEAD

Division of Hematology/OncologyUniversity of Texas Medical BranchGalveston, TXUSAwhitehrp@musc.edu

JAMES G. WHITE

Laboratory Medicine and PathologyUniversity of MinnesotaMinneapolis, MNUSAwhite003@umn.edu

MICHAEL P. WHYTE

Center for Metabolic Bone Disease and Molecular ResearchShriners Hospitals for Children and Department of MedicineWashington University School of MedicineSt. Louis, MOUSAmwhyte@shrinenet.org

DAN WICHTERLE

2nd Department of Internal Medicine1st Medical SchoolCharles UniversityPragueCzech Republicwichterle@hotmail.com

RALF WIENECKE

Department of DermatologyTuberous Sclerosis CenterLudwig-Maximilian-UniversityMunichGermanyralf.wienecke@lrz.uni-muenchen.de

JOLANTA WIERZBA

Department of Pediatrics, Hematology, Oncology andEndocrinologyMedical University of GdanskGdanskPolandkwierz@amg.gda.pl.

HOLGER S. WILLENBERG

Department of Endocrinology, Diabetes and RheumatologyUniversity HospitalDuesseldorfGermanyHolger.Willenberg@uni-duesseldorf.de

RUTH WILLIAMS

Department of Pediatric NeurologyThe Evelina Children’s HospitalLondonUKruth.williams@gstt.nhs.uk

xc List of Contributors

OLAF WITT

Department of Pediatric Oncology, Hematology andImmunologyUniversity of HeidelbergHeidelbergGermany

MARLYS H. WITTE

Department of SurgeryUniversity of ArizonaTucson, AZUSA

CRISTINA WOELLNER

Division of Rheumatology and Clinical ImmunologyUniversity Hospital FreiburgFreiburgGermanywoellner@medizin.ukl.uni-freiburg.de

FENELLA WOJNAROWSKA

Department of DermatologyThe Churchill HospitalOxfordUKFenella.Wojnarowska@orh.nhs.uk

BARRY WOLF

Department of PediatricsUniversity of Connecticut School of MedicineHartford, CTUSAbwolf@ccmckids.org

GUNTER WOLF

Department of Internal Medicine IIIUniversity Hospital JenaJenaGermanygunter.wolf@med.uni-jena.de

HANS WOLF

Institute of Medical MicrobiologyUniversity of RegensburgRegensburgGermanyhans.wolf@klinik.uni-regensburg.de

NICOLE I. WOLF

Department of Pediatric NeurologyUniversity of Heidelberg Medical CentreHeidelbergGermany

RONNI WOLF

The Dermatology UnitKaplan Medical CenterRechovotIsraelwolf_r@netvision.net.il

JOSEPH I. WOLFSDORF

Department of EndocrinologyChildren’s Hospital BostonBoston, MAUSAjoseph.wolfsdorf@childrens.harvard.edu

JOHN WOLSTENHOLME

Institute of Human GeneticsUniversity of NewcastleNewcastle upon TyneUKjohn.wolstenholme@ncl.ac.uk

ANDREW L. WONG

Department of SurgeryThe University of CalgaryCalgary, ABCanada

DEREK A. WONG

Childrens Hospital Los AngelesLos Angeles, CAUSAdewong@chla.usc.edu

TOM Y. WOO

Department of MedicineThe Univesity of CalgaryCalgary, ABCanada

KATIE A. WOODS

TRACY J. WRIGHT

Institute of Medical GeneticsUniversity of ZurichSchwerzenbachSwitzerland

KLAUS WROGEMANN

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, MNCanadaK_Wrogemann@Umanitoba.Ca

RONGQIAN WU

Department of SurgeryNorth Shore University Hospital and Long Island JewishMedical CenterManhasset, NYUSArwu@nshs.edu

List of Contributors xci

MICHAEL T. WUNDERLICH

Department of NeurologyOtto-von-Guericke-University MagdeburgMagdeburgGermanymichael.wunderlich@med.ovgu.de

WIM WUYTS

HUI XU

Institute of Endemic DiseasesNorman Bethune College of Medical SciencesJilin UniversityChangchunP.R. Chinaligs4466@yahoo.com

DHIRAJ YADAV

Division of GastroenterologyHepatology and NutritionUniversity of PittsburghPittsburgh, PAUSAyadavd@dom.pitt.edu

HIROYUKI YAMAGISHI

Department of PediatricsKeio University School of MedicineTokyoJapanhyamag@sc.itc.keio.ac.jp

TAKASHI YAMAKI

Department of Plastic and Reconstructive SurgeryTokyo Women’s Medical UniversityTokyoJapanyamaki@prs.twmu.ac.jp

XIMING J. YANG

Department of PathologyNorthwestern UniversityChicago, ILUSA

ZHIRONG YAO

Medical Mycology LaboratoryXinhua Hospital, School of MedicineShanghai Jiaotong UniversityShanghaiChinazryaosmu@sohu.com

RABAH BEN YAOU

InsermParisFrancer.benyaou@myologie.chups.jussieu.fr

KARINA YAZDANBAKHSH

Laboratory of Complement BiologyNew York Blood CenterNew York, NYUSAKYazdanbakhsh@NYBloodCenter.org

HUI-JUN YE

Department of CardiologySecond Xiangya HospitalCentral South UniversityChangsha, HunanPeople’s Republic of China

ORHAN YILDIZ

Department of Infectious DiseasesFaculty of MedicineErciyes UniversityKayseriTurkeyoyildiz@erciyes.edu.tr

KATSUHIKO YOSHIZAWA

Drug Safety Research LaboratoriesAstellas Pharma Inc.OsakaJapankatsuhiko.yoshizawa@jp.astellas.com

JASON X.-J. YUAN

Division of Pulmonary and Critical Care MedicineDepartment of MedicineUniversity of California at San DiegoLa Jolla, CAUSAxiyuan@ucsd.edu

PIN YUE

Washington University in St. Louis School of MedicineSt. Louis, MIUSA

TETSUO YUKIOKA

Department of Emergency and Critical Care MedicineTokyo Medical UniversityShinjuku, TokyoJapan

ELAINE H. ZACKAI

Department of PediatricsDivision of Human and Molecular GeneticsChildren’s Hospital of PhiladelphiaPhiladelphia, PAdzand@cnmc.org

EJAZ ZAIDI

Elipsis BiotherapeuticsToronto, ONCanadahzaidi@ellipsisbiotherapeutics.com

xcii List of Contributors

ILSE MARIA ZALAMAN

Department of Otolaryngology and Head and Neck SurgeryUniversity of TuebingenTuebingenGermany

DINA J. ZAND

Department of Pediatrics, Division of Genetics andMetabolismChildren’s National Medical CenterWashington, DCUSADZand@cnmc.org

FREDERICO ZARA

Muscular and Neurodegenerative Disease UnitUniversity of GenoaGenoaItaly

CHRISTOPHER K. ZARINS

Division of SurgeryStanford University School of MedicineStanford, CAUSAzarins@stanford.edu

MAYANA ZATZ

Human Genome Research Center, Department of Geneticsand Evolutionary BiologyInstitute of BiosciencesUniversity of São PauloSão PauloBrazil

JOERG ZEHELEIN

Department of Internal Medicine IIIUniversity Hospital HeidelbergHeidelbergGermanyjoerg.zehelein@med.uni-heidelberg.de

CHRISTINA ZEITZ

Institut de la VisionLaboratoire de Physiopathologie Cellulaire et Moléculaire dela Rétine-INSERMUniversité Pierre et Marie CurieParisFrancechristina.zeitz@inserm.fr

DARRYL C. ZELDIN

Laboratory of Respiratory BiologyNIH/NIEHSResearch Triangle Park, NCUSAzeldin@neihs.nih.gov

MARTIN ZENKER

Institute of Human GeneticsUniversity of Erlangen-NurembergErlangenGermanyMartin.Zenker@humgenet.uni-erlangen.de

HANS-PETER ZENNER

Department of Otolaryngology and Head and Neck SurgeryUniversity of TuebingenTuebingenGermanyhans-peter.zenner@med.uni-tuebingen.de

INGA ZERR

Department of NeurologyNational Reference Center for TSE SurveillanceGeorg-August UniversityGoettingenGermanyIngaZerr@med.uni-goettingen.de

KLAUS ZERRES

Institute of Human GeneticsAachen University of TechnologyAachenGermanykzerres@ukaachen.de

MASSIMO ZEVIANI

Unit of Molecular NeurogeneticsNational Neurological Institute “C. Besta”MilanItalyzeviani@istituto-besta.it

SHUI-PING ZHAO

Department of Cardiology, Second Xiangya HospitalCentral South UniversityChangsha, HunanPeople’s Republic of Chinazhaosp@medmail.com.cn

YAOFENG ZHAO

Karolinska Institute, Department of Laboratory MedicineKarolinska University Hospital HuddingeStockholmSwedenyaozha@mail.ki.se

YUN ZHAO

XIAOYAN ZHOU

Ochsner Clinic FoundationNew Orleans, LAUSAXzhou@ochsner.org

STEPHAN ZIERZ

Department of NeurologyUniversity of Halle-WittenbergHalleGermany

List of Contributors xciii

CHRISTIAN ZIETZ

Department of PathologyTechnical University of DresdenDresdenGermanychristian.zietz@uniklinikum-dresden.de

DIANA J. ZIMMERMANN

Department of UrologyUniversity of BonnBonnGermany

MARC ZIMMERMANN

Cardiovascular DepartmentHôpital de La TourMeyrinSwitzerlandzimmermann.family@bluewin.ch

PETER F. ZIPFEL

Department of Infection BiologyFriedrich-Schiller-UniversityJenaGermanypeter.zipfel@hki-jena.de

BIRGIT ZIRN

Institute of Human GeneticsGiessenGermanybirgit.zirn@humangenetik.med.uni-giessen.de

ARMIN ZITTERMANN

Department of Thoracic and Cardiovascular SurgeryHeart and Diabetes Center NRWRuhr UniversityBad OeynhausenGermanyazittermann@hdz-nrw.de

CHRISTOS C. ZOUBOULIS

Department of Dermatology, Venerology, Allergology andImmunologyDessau Medical CenterDessauGermanychristos.zouboulis@klinikum-dessau.de

GEORGE S. ZUBENKO

Department of PsychiatrySchool of MedicineUniversity of PittsburghPittsburgh, PAUSAzubenkog@pitt.edu

ORSETTA ZUFFARDI

Genetica MedicaUniversità di PaviaPaviaItalyzuffardi@unipv.it

ITSHAK ZUSMAN

Koret School of Veterinary Medicine, Food andEnvironmental Quality SciencesHebrew University of JerusalemRehovotIsraelzusmani@agri.huji.ac.il

xciv List of Contributors

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