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Page 1: link.springer.com978-3-540-29676-8/1.pdf · Preface Pathophysiology describes mechanisms of disease and is thus at the interface between basic research and clinical medicine. The

Encyclopedia of Molecular Mechanisms of Disease

Page 2: link.springer.com978-3-540-29676-8/1.pdf · Preface Pathophysiology describes mechanisms of disease and is thus at the interface between basic research and clinical medicine. The

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

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Editor:Prof. Dr. med. Florian LangInstitute of PhysiologyUniversity of TuebingenTuebingen, [email protected]

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

This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights oftranslation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in other ways, and storage in data banks.Duplication of this publication or parts thereof is only permitted under the provisions of the German Copyright Law of September 9, 1965, inits current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under theGerman Copyright Law.

© Springer-Verlag GmbH Berlin Heidelberg 2009

The use of registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such namesare exempt from the relevant protective laws and regulations and therefore free for general use.

Product liability: The publishers cannot guarantee the accuracy of any information about the application of operative techniques andmedicationscontained in this book. In every individual case the user must check such information by consulting the relevant literature.

Springer is part of Springer Science+Business Media

springer.com

Printed on acid-free paper SPIN: 11 73 68 75 2109 — 5 4 3 2 1 0

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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

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Editor-in-Chief

Prof. Dr. med. Florian LangInstitute of PhysiologyUniversity of TuebingenTuebingen, [email protected]

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Field Editors

CHRISTIAN BAUER

Université Claude Bernard,Lyon, [email protected](Section: Blood Disorders)

ALESSANDRA BAUMER

Institute of Medical Genetics,University of Zurich,Zurich, [email protected](Section: Chromosomal Disorder)

MICHAEL BECKER

The University of Chicago,Chicago, IL, [email protected](Section: Purine Metabolism)

HANS-KONRAD BIESALSKI

Department of Biological Chemistry and Nutrition,University Hohenheim,Stuttgart, [email protected](Section: Vitamins & Trace Elements)

STEFAN BORNSTEIN

Medical Clinic III,University Hospital Dresden,Dresden, [email protected](Section: Endocrinology)

KENNETH L. BRIGHAM

Department of MedicineEmory University School of Medicine,Atlanta, GA, [email protected](Section: Respiratory Disease)

WOLFGANG DIETMAIER

Institute of Pathology,University of Regensburg,Regensburg, [email protected](Section: Tumor Biology)

TILMAN B. DRÜKE

Hopital Necker,Paris, [email protected](Section: Bone and Mineral Disease)

GERD HASENFUßDepartment of Cardiology andPneumology,University of Goettingen,Goettingen, [email protected](Section: Cardiovascular System)

DIETER HÄUSSINGER

Clinic for Gastroenterology, Hepatologyand Infectiology,Heinrich-Heine-University,Duesseldorf, [email protected](Sections: Gastroenterology, Hepatology)

FRIEDHELM HILDEBRANDT

University of Michigan Health System,Ann Arbor, MI, [email protected](Section: Renal and Combined Disease)

KEITH A. HRUSKA

Barnes-Jewish Hospital,Washington University School ofMedicine,St. Louis, MO, [email protected](Section: Bone and Mineral Disease)

GARY HUNNINGHAKE

School of Medicine,University of Iowa,Iowa City, IA, [email protected](Section: Respiratory Disease)

MARTIN KONRAD

Department of Pediatrics,University of Muenster,Muenster, [email protected](Section: Bone and Mineral Disease)

KARL KUNZELMANN

Department of Physiology,University of Regensburg,Regensburg, [email protected](Section: Respiratory Disease)

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FLORIAN LANG

Institute of Physiology,University of Tuebingen,Tuebingen, [email protected](Conceptual Editor for Several Sections)

KARL S. LANG

Ontario Cancer Institute,University Toronto,Toronto, ON, [email protected](Section: Immunology)

UNDINE E. LANG

Department of Psychiatry and Psychotherapy,Charité University Medicine Berlin,Berlin, [email protected](Section: Psychiatry)

FRANK LEHMANN-HORN

Applied Physiology,Ulm University,Ulm, [email protected](Section: Neurology)

HOLGER LERCHE

Applied Physiology,Ulm University,Ulm, [email protected](Section: Neurology)

DEREK LEROITH

Division of Endocrinology, Diabetes and Bone Disease,Mount Sinai School of Medicine,New York, NY, [email protected](Section: Endocrinology)

THOMAS LUGER

Department of Dermatology,University Hospital of Muenster,Muenster, [email protected](Section: Skin)

REUBEN MATALON

Department of Pediatrics,University of Texas Medical Branch (UTMB),Galveston, TX, [email protected](Section: Amino Acid Metabolism)

DIETER METZE

Department of Dermatology,University Hospital of Muenster,Muenster, [email protected](Section: Skin)

LESTER PACKER

Department of Molecular Pharmacology andToxicology,School of Pharmacy,University of Southern California,Los Angeles, CA, [email protected](Section: Vitamins & Trace Elements)

MARKUS PFISTER

Department of Otolaryngology and Head andNeck Surgery,University of Tuebingen,Tuebingen, [email protected](Section: ENT)

MIKE RECHER

Clinic for Immunology, Department of InternalMedicine,University Hospital Zurich,Zurich, [email protected](Section: Immunology)

KONRAD SANDHOFF

LIMES Institute Program Unit,Membrane Biology and LipidBiochemistry Unit,University of Bonn,Bonn, [email protected](Section: Lipid Storage Diseases)

ALBERT SCHINZEL

Institute of Medical Genetics,University of Zurich,Zurich, [email protected](Section: Chromosomal Disorder)

H. ANNE SIMMONDS

Purine Research Unit,Guy's Hospital,London, [email protected](Section: Purine Metabolism)

x Field Editors

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OLAF STRAUßExperimental Ophthalmology,Department of Ophthalmology,University Regensburg,Regensburg, [email protected](Section: Ophthalmology)

HUGO TEN CATE

Department of Internal Medicine and of Biochemistry,Maastricht University,Maastricht, The [email protected](Section: Blood Disorders)

KURT ULLRICH

Children's Hospital,University Clinics Eppendorf,Hamburg, [email protected](Section: Amino Acid Metabolism)

HANS-PETER ZENNER

Department of Otolaryngology and Head andNeck Surgery,University of Tuebingen,Tuebingen, [email protected](Section: ENT)

EBERHARDT ZRENNER

University Eye Hospital,Tuebingen, [email protected](Section: Ophthalmology)

Field Editors xi

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List of Contributors

DIETRICH ABECK

Department of Dermatology and AllergologyTechnische Universitaet [email protected]

OLADAPO ADEWUYA

Department of PathologyUniversity of Texas Medical BranchHouston, TXUSA

GUIDO ADLER

Department of Internal Medicine IUlm [email protected]

ALI R. AFZAL

Department of Cardiological SciencesSt. George’s Hospital Medical [email protected]

VIMLA S. AGGARWAL

Department of Molecular GeneticsAlbert Einstein College of MedicineNew York, NYUSA

PUSHPA AGRAWAL

Institute of Microbial [email protected]

WALID AHMAR

MonashHeartSouthern Health and Department of MedicineMonash UniversityMelbourne, [email protected]

MINRONG AI

Department of Genetics and Center for Human GeneticsCase School of MedicineCleveland, [email protected]

NAIDU K. AKHILENDER

Department of Biochemistry and NutritionCentral Food Technological Research [email protected]

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, [email protected]

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, [email protected]

RICHARD F. AMBINDER

Viral Oncology Program, Sidney Kimmel Cancer CenterJohns Hopkins UniversityBaltimore, [email protected]

CHRISTINA M. AMBROS-RUDOLPH

Department of DermatologyMedical University of [email protected]

DETLEV AMEIS

Department of Internal Medicine IIEvangelic Hospital [email protected]

KATHERINE K. ANAGNOSTOPOULOU

First Cardiology DepartmentOnassis Cardiac Surgery CenterAthensGreece

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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 [email protected]

BRAGE STORSTEIN ANDRESEN

Institute of Human Genetics and Research Unit for MolecularMedicineAarhus [email protected]

CORRADO ANGELINI

Department of NeurosciencesUniversity of [email protected]

CHARLES ANTZELEVITCH

Experimental CardiologyMasonic Medical Research LaboratoryUtica, [email protected]

AMELIA ARÁNEGA

Department of Experimental BiologyUniversity of [email protected]

SAMUEL J. ARBES

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

MONICA ARENAS

Purine Research LaboratoryGuy’s [email protected]

ANDRES AREND

Department of AnatomyUniversity of [email protected]

JOSEP M. ARGILÉS

Departament de Bioquímica i BiologiaMolecular Universitat de [email protected]

GEMA ARICETA

Division of Pediatric Kidney DiseasesHospital de CrucesVizcayaSpain

JELENA S. ARNOLD

Department of Molecular GeneticsAlbert Einstein College of MedicineNew York, NYUSA

FRIEDRICH ASMUS

Department of Neurodegnerative DiseasesHertie-Institute for Clinical Brain ResearchCenter of [email protected]

JOHN R. ASPLIN

Department of Medicine, Section NephrologyUniversity of ChicagoChicago, [email protected]

MOHAMED G. ATTA

Department of NephrologyJohns Hopkins University School of MedicineBaltimore, [email protected]

MASSIMO ATTANASIO

Department of PediatricsUniversity of MichiganAnn Arbor, [email protected]

MARINA AUNAPUU

Department of AnatomyUniversity of [email protected]

INGO B. AUTENRIETH

Institute for Medical Microbiology and HygieneUniversity of [email protected]

xiv List of Contributors

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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, [email protected]

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’[email protected]

ANGELO AZZI

Vascular Biology Laboratory JM USDA – HNRCATufts University BostonBoston, [email protected]

ULRIKE BACHER

Department of Stem Cell TransplantationUniversity of [email protected]

RAFFAELE BADOLATO

Clinica PediatricaUniversita’ di [email protected]

JONATHAN BAETS

Neurogenetics GroupVIB Department of Molecular GeneticsUniversity of [email protected]

MATHIAS BÄHR

Department of NeurologyNational Reference Center for TSE SurveillanceGeorg-August [email protected]

MEI BAI

Division of Endocrinology, Diabetes and HypertensionBrigham and Women’s HospitalBoston, [email protected]

DAMIAN MILES BAILEY

Neurovascular Research LaboratoryFaculty of Health, Science and SportUniversity of [email protected]

ALFONSO BALDI

Department of Biochemistry, Section of PathologySecond University of [email protected]

NICOLA BALDINI

Laboratorio di Fisiopatologia degli Impianti OrtopediciIstituto Ortopedico RizzoliBolognaItaly

WENDY BALEMANS

Department of Medical GeneticsUniversity and University Hospital of [email protected]

MANFRED BALLMANN

Department of Pediatric Pneumology and NeonatologyMedical School [email protected]

MANISHA BALWANI

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

List of Contributors xv

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ANNEMIEKE M. BAMS-MENGERINK

Department of PediatricsEmma Children’s HospitalAcademic Medical CenterAmsterdamThe [email protected]

IRIS BARTELS

Institute of Human GeneticsUniversity [email protected]

ANDREAS BARTHEL

Endokrinologikum RuhrBochumGermany

DEBORAH BARTHOLDI

Institute of Medical GeneticsUniversity of [email protected]

OLIVER BARTSCH

Institute of Clinical GeneticsDresden University of [email protected]

PETER BÄRTSCH

Department of Internal Medicine VIIDivision of Sports MedicineMedical University [email protected]

MURAT BAS

HNOTechnische UniversitaetMunichGermany

DANIEL BATLLE

Division of Nephrology and HypertensionFeinberg School of MedicineNorthwestern UniversityChicago, [email protected]

AGATINO BATTAGLIA

The Stella Maris ClinicalResearch Institute for Child and Adolescent Neurologyand [email protected]

ALESSANDRA BAUMER

Institute of Medical GeneticsUniversity of [email protected]

JEROEN J. BAX

Department of CardiologyLeiden University Medical CenterLeidenThe [email protected]

JOHANNES BAYER

Department of DermatologyUniversity of MuensterMuensterGermany

NIKOLAOS E. BECHRAKIS

Department of OphthalmologyMedical University of [email protected]

MICHAEL BECK

Children’s HospitalUniversity of [email protected]

HEINZ BECK

Laboratory of Experimental Epileptologyand Cognition ResearchDepartment of EpileptologyLife and Brain [email protected]

MICHAEL A. BECKER

Department of MedicineUniversity of ChicagoPritzker School of MedicineChicago, [email protected]

ALAN H. BEGGS

Genetics Division and Program in GenomicsChildren’s HospitalHarvard Medical SchoolBoston, [email protected]

xvi List of Contributors

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FRANK BEIER

CIHR Group in Skeletal Development and RemodelingDepartment of Physiology and PharmacologyUniversity of Western OntarioLondon, [email protected]

STEFAN BEISSERT

Department of DermatologyUniversity of [email protected]

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, [email protected]

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, [email protected]

HERZL BEN-HUR

Laboratory of Experimental [email protected]

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 [email protected]

WOLFGANG BERGER

Division of Medical Molecular Genetics and GeneDiagnosticsInstitute of Medical GeneticsUniversity of [email protected]

MARGHERITA BERGOMI

Department of Public Health SciencesUniversity of Modena and Reggio [email protected]

SAMUEL F. BERKOVIC

Epilepsy Research CentreDepartment of MedicineUniversity of MelbourneWest Heidelberg, VICAustralia

MAURO BERNARDI

Dipartimento di Medicina Interna, Cardioangiologia,EpatologiaAlma Mater Studiorum Università di [email protected]

MARK BERNEBURG

Department of DermatologyEberhard Karls [email protected]

FELIX BEUSCHLEIN

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

List of Contributors xvii

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RUDI BEYAERT

Department of Molecular BiologyGhent University, [email protected]

KATRIN BEYER

Department of PathologyHospital Universitari Germans Trias i [email protected]

FRIEDHELM BEYERSDORF

Department of Cardiovascular SurgeryUniversity Medical Center FreiburgFreiburgGermany

ROBERT J. BEYNON

Department of Veterinary Preclinical SciencesUniversity of [email protected]

KONRAD BEYREUTHER

ZMBHUniversity of [email protected]

MICHALA BEZDEKOVA

Department of Pathology andLaboratory of Molecular PathologyPalacky UniversityOlomoucCzech Republic

RAVI BHARGAVA

Department of RadiologyStollery Children’s HospitalUniversity of AlbertaEdmonton, [email protected]

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, [email protected]

KAILASH P. BHATIA

Sobell Department of Motor Neuroscienceand Movement DisordersInstitute of [email protected]

CHRISTIAN G. BIEN

Department of EpileptologyUniversity of [email protected]

MARTINA BIENOVA

Department of DermatovenerologyPalacky University and University HospitalOlomoucCzech [email protected]

HANS K. BIESALSKI

Department of Biological Chemistry and NutritionUniversity [email protected]

BEVERLY M. K. BILLER

Neuroendocrine UnitMassachusetts General HospitalBoston, [email protected]

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 [email protected]

STEPHAN C. BISCHOFF

Nutritional Medicine and PreventionUniversity of [email protected]

xviii List of Contributors

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ROLAND BITSCH

Institute for NutritionFriedrich-Schiller-University [email protected]

JERRY G. BLAIVAS

Department of UrologySuny Downstate Medical SchoolNew York, [email protected]

NENAD BLAU

Division of Clinical Chemistry and BiochemistryUniversity Children’s [email protected]

ANTHONY J. BLEYER

Section of NephrologyWake Forest University School of MedicineWinston-Salem, [email protected]

NIKOLAUS BLIN

Department of Molecular PathologyUniversity Hospital of TuebingenTuebingenGermany

GERARD C. BLOBE

Medicine, Pharmacology and Cancer BiologyDuke UniversityDurham, [email protected]

ANNA BLONSKA

Department of Molecular GeneticsAlbert Einstein College of MedicineNew York, NYUSA

HUBERT E. BLUM

Department of Medicine IIUniversity [email protected]

OLAF A. BODAMER

Biochemical Genetics and National Neonatal ScreeningLaboratories Department of General PediatricsUniversity Children’s Hospital [email protected]

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, [email protected]

MARKUS BÖHM

Department of DermatologyUniversity Hospital of [email protected]

REGINA BÖKENKAMP

Department of Anatomy and EmbryologyLeiden University Medical CenterLeidenThe [email protected]

JACKY BONAVENTURE

Institut CurieCentre Universitaire Paris [email protected]

BRIGITTA BONDY

Section Psychiatric Genetics and NeurochemistryPsychiatric Hospital of Munich [email protected]

HERBERT L. BONKOVSKY

Research Cannon Research CenterCarolinas Medical CenterCharlotte, [email protected]

GISÈLE BONNE

Institut de Myologie UPMCGroupe Hospitalier Pitié-Salpêtriè[email protected]

List of Contributors xix

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KEVIN M. BONNEY

Departments of Pathology and Microbiology-ImmunologyNorthwestern University Feinberg School of MedicineChicago, [email protected]

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 [email protected]

CARL BORREBAECK

Department of ImmunotechnologyLund [email protected]

NIELS BORREGAARD

Department of HematologyRigshospitalet University of [email protected]

DORIN-BOGDAN BORZA

Division of NephrologyVanderbilt University School of MedicineNashville, [email protected]

MARK BOTHWELL

Department of Physiology and BiophysicsUniversity of WashingtonSeattle, [email protected]

HENRI BOUNAMEAUX

Angiology and HemostasisUniversity Hospitals of [email protected]

THOMAS BOURGERON

Pasteur InstituteUniversity Denis [email protected]

PATRICIA T. BOZZA

Immunopharmacology LaboratoryInstituto Oswaldo CruzFundação Oswaldo CruzRio de [email protected]

MARIA LUISA BRANDI

Regional Center for Hereditary Endocrine TumoursDepartment of Internal MedicineUniversity of [email protected]

THOMAS BRANDT

Department of NeurologyLudwig-Maximilians-UniversityKlinikum Groß[email protected]

MARKUS BRAUN-FALCO

Department of DermatologyUniversity of [email protected]

ALANNA F. BREE

Texas Children’s HospitalHouston, [email protected]

RANDOLF BREHLER

Department of DermatologyUniversity Hospital of [email protected]

MICHAEL BRIGGS

Wellcome Trust Centre for Cell Matrix ResearchUniversity of [email protected]

xx List of Contributors

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PEDRO BRITES

Laboratory of Genetic Metabolic DisordersAcademic Medical CenterUniversity of AmsterdamAmsterdamThe [email protected]

KNUT BROCKMANN

Department of Pediatrics and Pediatric NeurologyUniversity of [email protected]

STEFAN BRÖER

School of Biochemistry and Molecular BiologyAustralian National UniversityCanberra, [email protected]

EIRINI I. BROKALAKI

Department of Dermatology, Allergology and VenerologyUniversity of [email protected]

DAVID W. BROWN

Department of CardiologyChildren’s HospitalBoston, [email protected]

EDWARD M. BROWN

Division of Endocrinology, Diabetes and HypertensionBrigham and Women’s HospitalBoston, [email protected]

LEENA BRUCKNER-TUDERMAN

Department of DermatologyUniversity Medical [email protected]

ANNA BRUNN

Department of NeuropathologyUniversity of CologneCologneGermany

MARTINA BRUNNER

Department of Dermatology, Venerology, Allergology andImmunologyDessau Medical [email protected]

TOMAS BRYCHTA

SPEA Olomouc, s.r.o.OlomoucCzech [email protected]

SVETLANA BRYCHTOVA

Department of Pathology and Laboratory of MolecularPathologyPalacky UniversityOlomoucCzech [email protected]

JAN BUBENÍK

Department of Tumour ImmunologyInstitute of Molecular GeneticsAcademy of Sciences of the Czech RepublicPragueCzech [email protected]

THORSTEN BUCH

University Clinic [email protected]

KAREN BUCKINGHAM

Department of Obstetrics and GynaecologyUniversity of AucklandAuckland, AUKNew [email protected]

MARK G. BUCKLEY

Infection, Inflammation and RepairUniversity of SouthamptonSchool of MedicineSouthamptonUK

DENNIS E. BULMAN

Ottawa Health Research InstituteOttawa, [email protected]

CARSTEN BÜNING

Department of Gastroenterology,Hepatology and EndocrinologyCharité University [email protected]

GÜNTER BURG

Department of DermatologyUniversity Hospital [email protected]

List of Contributors xxi

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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, [email protected]

BARBARA BUSERT

Institute of Human GeneticsBonnGermany

LUCA BUSETTO

Department of Medical and Surgical SciencesUniversity of [email protected]

KATE BUSHBY

Institute of Human GeneticsNewcastle UniversityInternational Centre for LifeNewcastle upon [email protected]

SÍLVIA BUSQUETS

Departament de Bioquímica i Biologia MolecularUniversitat de [email protected]

JANINE BÜTTNER

Department of Gastroenterology, Hepatology andEndocrinologyCharité University [email protected]

KENNETH CALAMIA

Department of RheumatologyMayo ClinicJacksonville, [email protected]

CECILIA CAMACHO-HÜBNER

Pediatric Endocrinology SectionDepartment of EndocrinologySt. Bartholomew’s [email protected]

MARYANN CAMERON

Center for Mineral Metabolism and Clinical ResearchUniversity of Texas Southwestern Medical CenterDallas, [email protected]

MICHAEL CANTZ

Institute of PathologyUniversity of [email protected]

GIOVAMBATTISTA CAPASSO

Department of MedicineSecond University of [email protected]

JONATHAN R. CARAPETIS

Menzies School of Health ResearchCharles Darwin UniversityDarwin, [email protected]

MARTIN C. CAREY

Gastroenterology Division, Harvard Medical SchoolBrigham and Women’s HospitalBoston, [email protected]

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 [email protected]

xxii List of Contributors

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STEFANO CASCINU

Clinica di Oncologia MedicaUniversità Politecnica delle MarcheOspedali Riuniti Umberto I – GM Lancisi – G Salesi [email protected]

MARCO CASTORI

Medical Genetics, Experimental Medicine DepartmentUniversity La SapienzaS. Camillo-Forlanini [email protected]

PATRIZIO CATUREGLI

Department for Pathology and ImmunologyJohns Hopkins UniversityBaltimore, MDUSA

ANDREA CAVANI

Laboratory of Immunology and AllergologyIstituto Dermopatico dell’[email protected]

FERNANDO CENDES

Department of NeurologyUniversity of Campinas – UNICAMPCampinas, [email protected]

LORENZO CERRONI

Department of DermatologyMedical University of [email protected]

ELIZA F. CHAKRAVARTY

Division of Immunology and RheumatologyStanford University School of MedicinePalo Alto, [email protected]

STEPHEN CHALLACOMBE

Department of Oral MedicineKings College London Dental InstituteLondonUK

LARRY CHAMLEY

Fertility PlusGreenlane Clinical CentreAuckland, AUKNew [email protected]

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 [email protected]

ROY F. CHEMALY

Department of Infectious Diseases, Infection Control andEmployee HealthThe University of Texas M. D. Anderson Cancer CenterHouston, [email protected]

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, [email protected]

ALFREDO CHETTA

Department of Clinical Sciences, Respiratory Disease SectionUniversity of [email protected]

KAVITHA M. CHINNAIYAN

Division of Cardiology, Department of Internal MedicineWilliam Beaumont HospitalRoyal Oak, [email protected]

List of Contributors xxiii

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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, [email protected]

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 [email protected]

ROBERTO CICCONE

Genetica MedicaUniversità di PaviaPaviaItaly

ANDREA CIGNARELLA

Department of Pharmacological SciencesUniversity of [email protected]

DANIELA CILLONI

Department of Clinical and Biological SciencesUniversity of Turin, S.Luigi [email protected]

ADRIAN J. L. CLARK

Pediatric Endocrinology SectionDepartment of EndocrinologySt. Bartholomew’s HospitalLondonUK

ANTHONY J. CLEARE

Institute of PsychiatryKings College [email protected]

ANGEL COGOLLUDO

Department of PharmacologySchool of MedicineUniversity Complutense of [email protected]

DENNIS V. COKKINOS

First Cardiology DepartmentOnassis Cardiac Surgery [email protected]

NANANDA F. COL

Center for Outcomes Research and EvaluationMaine Medical CenterPortland, [email protected]

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 [email protected]

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

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JONATHAN CORREN

Allergy Research FoundationLos Angeles, [email protected]

LAURA IRIS COSEN-BINKER

Cátedra de Gastroenterología y Enzimología Clínica –Departamento de Bioquímica Clínica, Facultad de Farmacia yBioquímicaUniversidad de Buenos AiresBuenos [email protected]

CORNELIUS COURTS

Department of NeuropathologyUniversity of CologneCologneGermany

PATRICK COUTURE

Institute on Nutraceuticals and Functional FoodsLaval UniversityQuébec, QCCanada

JACK B. COWLAND

Department of HematologyRigshospitalet University of [email protected]

JAMES E. CROWE JR.Program in Vaccine SciencesVanderbilt UniversityNashville, [email protected]

ANNETTE CRYER

Department of OtorhinolaryngologyKlinikum Karlsruhe gGmbHKarlsruheGermany

ANTONIO L. CUESTA-MUÑOZ

Centre for the Study of Monogenic Diseases of PancreaticBeta-cellFundación IMABIS, Carlos Haya HospitalMá[email protected]

VANESSA F. CURY

Departments of Pharmacology and Oral PathologyUniversidade Federal de Minas GeraisBelo HorizonteBrazil

PEDRO R. CUTILLAS

Luwig Institute for Cancer [email protected]

BRUNO DALLAPICCOLA

Department of Experimental MedicineUniversity La Sapienza and CSS-Mendel [email protected]

ROBERT DALLA POZZA

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

HENRYK DANCYGIER

Department of Internal Medicine IIKlinikum Offenbach [email protected]

ADRIAN DANEK

Department of NeurologyLudwig-Maximilians-University [email protected]

RUTH DANZEISEN

Department of NeurologyUniversity of [email protected]

SUKRAN DARCAN

Department of Pediatric Endocrinology and MetabolismFaculty of MedicineEge UniversityBornova İ[email protected]

NIKLAS DARIN

Department of PediatricsSahlgrenska University HospitalGö[email protected]

WALTER DÄUBENER

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

List of Contributors xxv

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SANDEEP S. DAVE

Department of Medicine, Oncology DivisionInstitute for Genome Sciences and PolicyDuke UniversityDurham, [email protected]

GLORIA L. DAVID

Laboratory of Respiratory BiologyNIH/NIEHSResearch Triangle Park, NCUSA

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, [email protected]

MANNING R. DAVIS

Department of Physiology and BiophysicsUniversity of Mississippi Medical CenterJackson, [email protected]

PETER DE JONGHE

Neurogenetics GroupVIB Department of Molecular GeneticsUniversity of [email protected]

OSCAR DE LA CALLE-MARTIN

Servei d’ImmunologiaHospital de Sant [email protected]

KLAUS-MICHAEL DEBATIN

Division of Pediatric Endocrinology and DiabetesUniversity of UlmUlmGermany

HANNA DEBIEC

University Pierre et Marie [email protected]

MARTINA DECKERT

Department of NeuropathologyUniversity of [email protected]

CHARUNGTHAI DEJTHEVAPORN

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

ETIENNE DELACRÉTAZ

Swiss Cardiovascular Center BernUniversity [email protected]

ANTONIO V. DELGADO-ESCUETA

Comprehensive Epilepsy Program, Epilepsy Genetics/Genomics Laboratories and Epilepsy Center of ExcellenceUCLA School of Medicine and VA GLAHSLos Angeles, [email protected]

LUIZ DE MARCO

Departments of Pharmacology and Oral PathologyUniversidade Federal de Minas GeraisBelo [email protected]

S. DE MARIE

Department of Medical Microbiology and Infectious DiseasesErasmus University Medical CentreRotterdamThe Netherlands

JONAS DENECKE

Department of PediatricsUniversity of [email protected]

LEE A. DENSON

Division of Gastroenterology, Hepatology, and NutritionCincinnati Children’s Hospital Medical CenterCincinnati, [email protected]

xxvi List of Contributors

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GORDON DENT

Institute of Science and Technology in MedicineKeele UniversityKeele, [email protected]

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, [email protected]

MARCO C. DERUITER

Department of Anatomy and EmbryologyLeiden University Medical CenterLeidenThe [email protected]

ELOISA DE SÁ MOREIRA

Human Genome Research CenterDepartment of Genetics and Evolutionary BiologyInstitute of BiosciencesUniversity of São PauloSão [email protected]

MARCUS DESCHAUER

Department of NeurologyUniversity of Halle-WittenbergHalle/[email protected]

ROBERT J. DESNICK

Department of Genetics and Genomic SciencesMount Sinai School of Medicine of New York UniversityNew York, [email protected]

DARRYL C. DE VIVO

Colleen Giblin Laboratories for Pediatric Neurology ResearchDepartment of NeurologyColumbia UniversityNew York, [email protected]

OLIVIER DEVUYST

Division of NephrologyUCL Medical [email protected]

JEAN-CHARLES DEYBACH

Centre Français des PorphyriesINSERMHôpital Louis [email protected]

ROEL DE WEGER

Department PathologyMolecular and Immuno-PathologyUniversity Medical Center UtrechtUtrechtThe [email protected]

NARANJAN S. DHALLA

St. Boniface General Hospital Research CentreUniversity of ManitobaWinnipeg, [email protected]

ALESSIA DIANA

Dipartimento Clinico VeterinarioUniversità degli Studi di [email protected]

MARTIN DICHGANS

Department of NeurologyLudwig-Maximilians-University [email protected]

ARNE W. J. H. DIELIS

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

THOMAS DIERKS

Department of BiochemistryUniversity of [email protected]

WOLFGANG DIETMAIER

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

List of Contributors xxvii

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M.CRISTINA DIGILIO

Medical GeneticsBambino Gesù [email protected]

GERHARD-PAUL DILLER

Adult Congenital Heart Centre and Centre for PulmonaryHypertension, Royal Brompton Hospital and the NationalHeart and Lung InstituteImperial [email protected]

HANER DIRESKENELI

Marmara University Medical [email protected]

ANGELA DISPENZIERI

Division of Hematology and Internal MedicineMayo Clinic and Mayo FoundationRochester, [email protected]

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, [email protected]

MARKUS G. DONNER

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

DAN DONOGHUE

Department of Chemistry and BiochemistryUniversity of CaliforniaSan Diego, [email protected]

OLIVIER DORSEUIL

Département de Génétique et DéveloppementInstitut CochinINSERM Université Paris [email protected]

ADEL DRISS

Winship Cancer InstituteEmory UniversityAtlanta, [email protected]

MAARTEN R. DROST

Department of Movement SciencesMaastricht UniversityMaastrichtThe [email protected]

OLIVIER DULAC

Department of Pediatric NeurologyHôpital Necker Enfants [email protected]

REINHARD DUMMER

Department of DermatologyUniversity Hospital [email protected]

MARIE-ESTELLE DUPONT

Département de Psychiatrie de l’Adolescentet du Jeune AdulteInstitut Mutualiste [email protected]

MARINUS DURAN

Department of Clinical ChemistryUniversity of AmsterdamAmsterdamThe Netherlands

REYNA M. DURON

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

PIROOZ EGHTESADY

Division of Cardiothoracic SurgeryCincinnati Children’s Hospital Medical CenterCincinnati, [email protected]

xxviii List of Contributors

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JAN EHRCHEN

Department of DermatologyUniversity of MuensterMuensterGermany

GEORGE E. EHRLICH

University of Pennsylvania School of MedicinePhiladelphia, [email protected]

HENK EIJER

Orthopedic DepartmentSonnenhof [email protected]

CLAUS FERDINAND EISENBERGER

Department of General, Visceral and Pediatric SurgeryUniversity Hospital DuesseldorfHeinrich Heine [email protected]

GRAEME EISENHOFER

Clinical Neurocardiology SectionNINDS, National Institutes of HealthBethesda, [email protected]

CHRISTIAN ELGER

Department of EpileptologyUniversity of [email protected]

LEAH I. ELIZONDO

Interdepartmental Program in Cell and Molecular BiologyBaylor College of MedicineHouston, [email protected]

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, [email protected]

HOLGER K. ELTZSCHIG

Mucosal Inflammation ProgramDepartment of Anesthesiology and Perioperative MedicineUniversity of Colorado Health Sciences CenterDenver, [email protected]

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, [email protected]

ANDREW G. ENGEL

Department of NeurologyUCLA School of MedicineReed Neurologic Research CenterMayo ClinicRochester, [email protected]

JUTTA ENGEL

Institute of Physiology Department II and Tuebingen HearingResearch [email protected]

DAVID M. ENGMAN

Departments of Pathology and Microbiology-ImmunologyNorthwestern University Feinberg School of MedicineChicago, [email protected]

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

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CHARLES J. EPSTEIN

Department of Neurology and Neurological SciencesStanford UniversityPalo Alto, [email protected]

ELARDUS ERASMUS

School of BiochemistryNorth-West UniversityPotchefstroomSouth [email protected]

ANDREAS ERHARDT

Department of Gastroenterology, Hepatology and InfectiousDiseasesHeinrich-Heine University of [email protected]

SEHSUVAR ERTÜRK

Department of NephrologyAnkara University School of [email protected]

JOAQUIN ESCRIBANO

Pediatric Nephrology UnitHospital Universitari Sant [email protected]

MICHAEL ESCUDIER

Department of Oral MedicineKings College London Dental InstituteLondonUK

DANIELA ESER

Department of PsychiatryLudwig-Maximilian-University [email protected]

MICHELLE M. ESTRELLA

Department of NephrologyJohns Hopkins University School of MedicineBaltimore, [email protected]

MARKUS ESZLINGER

III. Medical DepartmentUniversity of [email protected]

ANALEE J. ETHEREDGE

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

AMOS ETZIONI

Department of ImmunologyMeyer Children’s [email protected]

CEM EVEREKLIOGLU

Department of OphthalmologyErciyes University Medical [email protected]

DAVID B. EVERMAN

Greenwood Genetic CenterGreenwood, [email protected]

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, [email protected]

LYNETTE D. FAIRBANKS

Purine Research LaboratoryGuy’s [email protected],uk

MUHAMMAD FAIYAZ-UL-HAQUE

Department of GeneticsThe Hospital for Sick ChildrenToronto, [email protected]

ALBERTO FALCHETTI

Regional Center for Hereditary Endocrine TumoursDepartment of Internal MedicineUniversity of FlorenceFlorenceItaly

xxx List of Contributors

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RONNIE FASS

Southern Arizona VAHealth Care System and Arizona HealthSciences CenterUniversity of ArizonaTucson, [email protected]

PAVEL FENCL

Department of Nuclear MedicinePET CentreNa Homolce HospitalPragueCzech [email protected]

PETER FERENCI

Department of Internal Medicine III, Gastroenterology andHepatologyVienna Medical [email protected]

ALBERTO FERLIN

Department of Histology, Microbiology and MedicalBiotechnologiesSection of Clinical Pathology and Centre for Male GameteCryopreservationUniversity of [email protected]

ATTEYET-ALLA FETOUH YASSIN

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

GIORA Z. FEUERSTEIN

Wyeth ResearchDiscovery Translational MedicineCollegeville, [email protected]

BÄRBEL FIEDLER

University of MuensterChildren’s HospitalMuensterGermany

JOSHUA FIERER

Division of Infectious Diseases, Department of MedicineUniversity of California at San DiegoSan Diego, [email protected]

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 [email protected]

JOHN W. FINLEY

USDA ARSGrand Forks Human Nutrition Research CenterGrand Forks, [email protected]

RICHARD H. FINNELL

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

JOSEF FINSTERER

KA [email protected]

ANTONELLA FIORAVANTI

Unit of RheumatologyDepartment of Clinical Medicine and ImmunologicalSciencesUniversity of [email protected]

TOBIAS W. FISCHER

Department of Dermatology, Venerology and AllergyUniversity Hospital Schleswig-HolsteinUniversity of [email protected]

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

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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, [email protected]

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, [email protected]

IRMGARD FÖRSTER

Institut für Umweltmedizinische Forschung gGmbHUniversity of [email protected]

FEDERICO FRACASSI

Dipartimento Clinico VeterinarioUniversità degli Studi di [email protected]

JEAN FRANCIS

Department of Internal MedicineHospital of St. RaphaelNew Haven, CTUSA

DIEGO FRANCO

Department of Experimental BiologyUniversity of [email protected]

JORGE FRANK

MUCMDUniversity Medical Center MaastrichtMaastrichtThe [email protected]

KAREL FRASCH

Department of Psychiatry IIUniversity of [email protected]

KENDALL S. FRAZIER

Safety AssessmentGlaxoSmithKlineKing of Prussia, [email protected]

ROGER A. FREEDMAN

Division of CardiologyUniversity of UtahSalt Lake City, [email protected]

BARRY I. FREEDMAN

Internal Medicine, Section on NephrologyWake Forest University School of MedicineWinston-Salem, [email protected]

NORBERT FREY

Department of CardiologyUniversity of [email protected]

GÉRARD FRIEDLANDER

INSERMUniversity of ParisParisFranceGé[email protected]

xxxii List of Contributors

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THOMAS FRIELING

Medical Clinic IIHelios Klinikum KrefeldKrefeldGermanyto [email protected]

ANDREAS FRITSCHE

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

STEPHAN J. FROEHLICH

Eye ClinicLudwig-Maximilians-University [email protected]

EDWARD D. FROHLICH

Ochsner Clinic FoundationNew Orleans, LAUSA

MICHAEL FROMM

Clinical PhysiologyCampus Benjamin FranklinCharité[email protected]

PATRICK FROSK

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, [email protected]

DIETMAR FUCHS

Department of Biological ChemistryBiocenterMedical-University of [email protected]

ARNO FUCHSHUBER

University Children’s [email protected]

TOSHIRO FUJITA

Department of Nephrology and EndocrinologyUniversity of Tokyo Graduate School of [email protected]

MASAFUMI FUKAGAWA

Division of Nephrology & Kidney CenterKobe University School of [email protected]

KEIICHI FUKUDA

Department of Regenerative Medicine and Advanced CardiacTherapeuticsKeio University School of [email protected]

GÉRARD GACON

Département de Génétique et DéveloppementInstitut CochinINSERMUniversité Paris [email protected]

WILLIAM A. GAHL

Section of Human Biochemical Genetics, Heritable DisordersBranchNational Human Genome Research InstituteBethesda, [email protected]

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, [email protected]

JÜRGEN GALLINAT

Department of Psychiatry and PsychotherapyCharité [email protected]

VICTOR M. GARCA NIETO

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

List of Contributors xxxiii

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ANGELS GARCÍA-CAZORLA

Neurology DepartmentHospital Sant Joan de Dé[email protected]

HELENA M. GARDINER

Institute of Reproductive and Developmental BiologyFaculty of MedicineImperial CollegeQueen Charlotte’s and Chelsea [email protected]

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 [email protected]

ZORAN GATALICA

Department of PathologyCreighton University School of MedicineOmaha, [email protected]

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 [email protected]

MICHEL GAUTIER

Laboratoire de MicrobiologieUMR STLO, [email protected]

HANS-JÜRGEN GDYNIA

Department of NeurologyUniversity of [email protected]

KAREL GEBOES

Department of PathologyUniversity Hospital [email protected]

URBAN W. GEISTHOFF

Department of OtorhinolaryngologyHospitals of the City of CologneHNO [email protected]

DAVID S. GELLER

Section of NephrologyYale University School of MedicineNew Haven, [email protected]

DAVID GENEVIEVE

Département de GénétiqueINSERMHôpital Necker Enfants-MaladesParisFrance

MICHAEL T. GERAGHTY

Children’s Hospital of Eastern OntarioOttawa, [email protected]

IVOR L. GERBER

Department of CardiologyGreen Lane Cardiovascular ServiceAuckland City HospitalAuckland, AUKNew [email protected]

VICTOR E. A. GERDES

Department of Vascular MedicineAmsterdam Vascular Medicine GroupAcademic Medical CenterAmsterdamThe [email protected]

xxxiv List of Contributors

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M. ERIC GERSHWIN

Division of Internal MedicineDepartment of Clinical Sciences ‘Luigi Sacco’University of [email protected]

CRISTINA GERVASINI

Division of Medical GeneticsSan Paolo School of MedicineUniversity of MilanMilanItaly

TAL GEVA

Department of CardiologyChildren’s HospitalBoston, [email protected]

ISMAT GHANEM

Department of Orthopedic SurgeryHotel-Dieu de France HospitalSaint Joseph [email protected]

PHILIP F. GIAMPIETRO

Department of Medical Genetic ServicesMarshfield ClinicMarshfield, [email protected]

VOLKMAR GIESELMANN

Institute for Physiological ChemistryUniversity [email protected]

RICHARD E. GILBERT

Keenan Research CentreLi Ka Shing Knowledge InstituteSt. Michael’s Hospital and University of TorontoToronto, [email protected]

JAMES M. GILCHRIST

Department of Clinical NeurosciencesBrown Medical SchoolProvidence, [email protected]

PERE GINÈS

University of [email protected]

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 [email protected]

ADRIANA C. GITTENBERGER-DE GROOT

Department of Anatomy and EmbryologyLeiden University Medical CenterLeidenThe [email protected]

BENJAMIN GLASER

Endocrinology and Metabolism ServiceInternal Medicine DivisionHebrew University-Hadassah Medical [email protected]

PETER J. GOADSBY

Headache GroupDepartment of NeurologyUniversity of CaliforniaSan Francisco, [email protected]

HANS H. GOEBEL

Department of NeuropathologyJohannes-Gutenberg University Medical [email protected]

SERGIJ GOERDT

Department of Dermatalogy, Venereology and AllergologyUniversity Medical Centre MannheimRuprechts-Karls-University of [email protected]

ERIC GOFFIN

Departments of Nephrology and RadiologyCliniques Universitaires [email protected]

List of Contributors xxxv

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LEV G. GOLDFARB

Department of Health and Human ServicesNational Institutes of HealthBethesda, [email protected]

ELIZABETH GOLDMUNTZ

Division of CardiologyChildren’s Hospital of PhiladelphiaPhiladelphia, [email protected]

NETA GOLDSCHMIDT

Hematology DepartmentHadassah – Hebrew University Medical [email protected]

DANIEL R. GOLDSTEIN

Department of Internal MedicineSection of Cardiovascular MedicineYale University School of MedicineNew Haven, [email protected]

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, [email protected]

GEORG GOSZTONYI

Institute of NeuropathologyCharité – University Medicine [email protected]

YU-ICHI GOTO

Department of Mental Retardation and Birth Defect ResearchNational Center of Neurology and PsychiatryKodaira, [email protected]

ROBERT W. GOTSHALL

Health and Exercise ScienceColorado State UniversityFort Collins, [email protected]

HULYA ILIKSU GOZU

Section of Endocrinology and MetabolismDr. Lutfi Kirdar Kartal Education and Research [email protected]

JÜRGEN GRABBE

Department of DermatologyMedical University of [email protected]

STEPHAN GRABBE

Department of DermatologyJohannes-Gutenberg-University [email protected]

DONATELLA GRANCHI

Laboratorio di Fisiopatologia degli Impianti OrtopediciIstituto Ortopedico [email protected]

BERNARD GRANDCHAMP

Service de Biochimie BHôpital [email protected]

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, [email protected]

ALMUT GRENZ

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

xxxvi List of Contributors

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OLAV A. GRESSNER

Institute of Clinical Chemistry and PathobiochemistryBWTH University [email protected]

BODO GRIMBACHER

Department of Immunology and Molecular PathologyRoyal Free Hospital and University College Medical [email protected]

HERMANN-JOSEF GRÖNE

Department of Cellular and Molecular PathologyGerman Cancer Research CenterUniversity of [email protected]

ROBERT F. GROFF IVDepartment of NeurosurgeryUniversity of PennsylvaniaPhiladelphia, PAUSA

TILMAN GRUNE

Institute of Biological Chemistry and NutritionBiofunctionality and Safety of FoodUniversity [email protected]

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 [email protected]

RENZO GUERRINI

Pediatric Neurology and Neurogenetics Unit and LaboratoriesChildren’s Hospital A.MeyerUniversity of [email protected]

JEAN-MARC GUETTIER

National Institute of Diabetes and Digestive and KidneyDiseasesNational Institutes of HealthBethesda, [email protected]

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 [email protected]

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 [email protected]

ANGELIKA GUTENBERG

Department for NeurosurgeryGeorg-August-UniversityGoettingenGermanyagutenb1@jhmi.edu

List of Contributors xxxvii

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FLEMMING GÜTTLER

Danish Center for Human Genome ResearchJohn F. Kennedy [email protected]

YENER GÜZELCAN

Reinier van Arkel Group/Jeroen Bosch HospitalDepartment of Psychiatry‘s-HertogenboschThe [email protected]

BIRGIT HAACK

Department of Molecular PathologyUniversity Hospital of [email protected]

JOOST HAAN

Department of NeurologyRijnland Hospital/Leiden University Medical CentreLeidenThe [email protected]

STEPHAN L. HAAS

Department of Medicine II (Gastroenterology, Hepatologyand Infectious Diseases)University Hospital of Heidelberg at [email protected]

PIRMIN HABERMEHL

Pediatric University HospitalJohannes-Gutenberg [email protected]

JOHANNES HÄBERLE

University Hospital of [email protected]

PETER HACKMAN

Department of Medical GeneticsVaasa Central HospitalUniversity of HelsinkiHelsinkiFinland

GEORGIOS M. HADJIGEORGIOU

Department of Neurology, School of MedicineUniversity of [email protected]

CLAUDIA HAFERLACH

Munich Leukemia Laboratory (MLL)MunichGermany

TORSTEN HAFERLACH

Munich Leukemia Laboratory (MLL)MunichGermany

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 [email protected]

ANGELIKA F. HAHN

Department of NeurologyUniversity of Western OntarioLondon Health Science CentreLondon, [email protected]

AHMET MESRUR HALEFOĞLU

Department of RadiologyŞişli Etfal Training and Research HospitalŞişli, İ[email protected]

TAKAHIRO HAMADA

Department of DermatologyKurume University School of MedicineKurume, [email protected]

RIIKKA H. HÄMÄLÄINEN

Folkhälsan Institute of Genetics and Neuroscience CenterUniversity of [email protected]

CHRISTIAN HAMEL

CHU MontpellierCentre of Reference for Genetic Sensory [email protected]

xxxviii List of Contributors

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LENNART HAMMARSTÖM

Karolinska InstituteDepartment of Laboratory MedicineKarolinska University Hospital [email protected]

C. OLIVER HANEMANN

Clinical NeurobiologyInstitute of Biomedical and Clinical SciencePeninsula Medical SchoolTamar Science Park, [email protected]

MICHAEL G. HANNA

Centre for Neuromuscular DiseaseNational Hospital for Neurology and NeurosurgeryDepartment of Molecular NeuroscienceInstitute of [email protected]

R. SCOTT HANSEN

Department of Genome SciencesUniversity of WashingtonSeattle, WAUSA

ANN-SOFIE HANSSON

Department of Clinical ImmunologySahlgrenska University [email protected]

NAOKI HARADA

Kyusyu Medical Science Nagasaki LaboratoryNagasakiJapan

RICHARD W. HARPER

MonashHeartMonash Medical CentreMelbourne, [email protected]

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 [email protected]

ARNDT HARTMANN

Department of PathologyUniversity [email protected]

BRANDY J. HARVEY

Department of Cell Biology and BiochemistryTexas Tech University Health Sciences CenterLubbock, TXUSABrandy [email protected]

GERD HASENFUSS

HerzzentrumGeorg-August-University [email protected]

AKMAL HASSAN

Clinic of DermatologyHeinrich-Heine-UniversityDuesseldorfGermany

SYED HASSAN

Elipsis BiotherapeuticsToronto, [email protected]

NAN HATCH

Department of OrthodonticsUniversity of MichiganAnn Arbor, [email protected]

DIETER HÄUSSINGER

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

List of Contributors xxxix

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THOMAS HAWRANEK

Department of DermatologyParacelsus Private Medical UniversitySalzburgAustria

RITVA HÄYRINEN-IMMONEN

Vantaa Dental [email protected]

S. DIANE HAYWARD

Viral Oncology ProgramSidney Kimmel Cancer CenterJohns Hopkins UniversityBaltimore, [email protected]

DENIS J. HEADON

University of [email protected]

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, [email protected]

ULRICH HEININGER

University Children’s [email protected]

TOBIAS HEINTGES

Clinic for Gastroenterology, Hepatology and InfectiologyHeinrich-Heine-University [email protected]

MIEP HELFRICH

Bone Research ProgrammeSchool of Medicine and DentistryInstitute of Medical SciencesForesterhill, [email protected]

JAN HELLEMANS

Center for Medical GeneticsGhent University [email protected]

GEOFFREY N. HENDY

Calcium Research Laboratory, Royal Victoria Hospital, andDepartments of Medicine, Physiology and Human GeneticsMcGill UniversityMontreal, [email protected]

HARTMUT HENGEL

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

MARKUS HENGSTSCHLÄGER

Medical Genetics, Obstetrics and GynecologyMedical University of [email protected]

RAOUL C. M. HENNEKAM

Department of PediatricsAcademic Medical CenterUniversity of AmsterdamAmsterdamThe [email protected]

WERNER J. HEPPT

Department of OtorhinolaryngologyKlinikum [email protected]

DAVID N. HERRMANN

Departments of Neurology and PathologyUniversity of RochesterRochester, [email protected]

MICHAEL S. HERSHFIELD

Department of BiochemistryDuke University Medical CenterDurham, [email protected]

ALBRECHT HESSE

Department of UrologyUniversity of [email protected]

xl List of Contributors

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REINOUT P. HESSELINK

PharmacellMaastrichtThe [email protected]

PETER HEUTINK

Department of Clinical GeneticsVU University Medical CenterAmsterdamThe [email protected]

WHITNEY A. HIGH

Departments of Dermatology and PathologyUniversity of Colorado School of MedicineDenver, [email protected]

FRIEDHELM HILDEBRANDT

Department of PediatricsUniversity of MichiganAnn Arbor, [email protected]

DENISE S. HILL

Interdisciplinary Faculty of ToxicologyTexas A&M UniversityCollege Station, TXUSA

JAN-LUUK HILLEBRANDS

Department of Cell Biology, Immunology SectionUniversity Medical Center GroningenGroningenThe [email protected]

HELMUT HINTNER

Department of DermatologyParacelsus Private Medical [email protected]

SHIRLEY HODGSON

Department of Cancer GeneticsSt. George’s HospitalUniversity of [email protected]

ERIC P. HOFFMAN

Research Center for Genetic MedicineChildren’s National Medical CenterGeorge Washington UniversityWashington, [email protected]

MICHAEL M. HOFFMANN

Division of Clinical ChemistryUniversity Hospital FreiburgFreiburg i. [email protected]

SILKE HOFMANN

Department of DermatologyUniversity Medical [email protected]

MARY H. HOHENHAUS

Department of MedicineBrown University/The Miriam HospitalProvidence, [email protected]

BERND HOHENSTEIN

Department of Nephrology and HypertensionUniversity Erlangen-NurembergErlangenGermany

HAZEL M. HOLDEN

Department of BiochemistryUniversity of WisconsinMadison, [email protected]

STEPHEN T. HOLGATE

Southampton General HospitalUniversity of [email protected]

STEVEN HOLLAND

NIH Clinical CenterBethesda, MAUSA

ARE MARTIN HOLM

Section of Clinical Immunology and Infectious DiseasesMedical DepartmentRikshospitalet University [email protected]

IAN HOLT

MRC-Dunn Human Nutrition [email protected]

FRANK G. HOLZ

Department of OphthalmologyUniversity of BonnBonnGermany

List of Contributors xli

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MARINELLA HOLZHAUSEN

Department of Pharmacology and TherapeuticsThe University of CalgaryCalgary, [email protected]

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 [email protected]

TAKAYUKI HONDA

Department of Laboratory MedicineShinshu University School of [email protected]

BERND HOPPE

University Children’s HospitalUniversity of [email protected]

SEVAN HOPYAN

Hospital for Sick Children, Division of Orthopedics andProgram in Developmental and Stem Cell BiologyUniversity of TorontoToronto, [email protected]

JULIA HORN

Division of Rheumatology and Clinical ImmunologyUniversity Hospital [email protected]

JASON H. HUANG

Department of NeurosurgeryUniversity of PennsylvaniaPhiladelphia, [email protected]

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, [email protected]

PETER HUPPKE

Department of Pediatric NeurologyGeorg-August [email protected]

KHALID HUSSAIN

Great Ormond Street Children’s Hospital NHS Trust and theInstitute of Child HealthUnit of BEMUniversity [email protected]

MARY REDMOND HUTSON

Department of Pediatrics, NPRIDuke UniversityDurham, [email protected]

JAMES HYLAND

Department of PathologyCenter for Gene TherapyTulane University Health Sciences CenterNew Orleans, [email protected]

MOFID IBRAHEIM

Department of Obstetrics and GynecologyBasildon University [email protected]

xlii List of Contributors

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OMAR A. IBRAHIMI

Department of DermatologyHarvard Medical SchoolBoston, [email protected]

HIROSHI ICHINOSE

Department of Life ScienceGraduate School of Bioscience and BiotechnologyTokyo Institute of [email protected]

AMAJ IKOMI

Department of Obstetrics and GynaecologyBasildon University HospitalBasildonUK

MASSIMO IMAZIO

Cardiology DepartmentMaria Vittoria [email protected]

KEI INAI

Department of Pediatric CardiologyTokyo Women`s Medical [email protected]

ADIBA ISADepartment of Clinical ImmunologyCenter for Stem Cell TreatmentOdense University HospitalUniversity of Southern [email protected]

WULF ITOHeartcenter, CardiologyUniversity Hospital Hamburg-EppendorfHamburgGermany

EIJI ITOI

Department of Orthopedic SurgeryTohoku University School of [email protected]

SUDHA K. IYENGAR

Epidemiology and BiostatisticsOphthalmology and GeneticsCase Western Reserve UniversityCleveland, [email protected]

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, [email protected]

JAAK JAEKEN

Department of PediatricsCenter for Metabolic DiseaseUniversity of [email protected]

MARKUS JÄGER

Department of Psychiatry IIUniversity of UlmGuenzburgGermany

MICHAELA JAKSCH

Freiburg Medical LaboratoryMiddle East [email protected]

HANNU JALANKO

Hospital for Children and AdolescentsUniversity of [email protected]

ANDREAS JANECKE

Division of Clinical GeneticsInnsbruck Medical [email protected]

PETER L. M. JANSEN

Department of Gastroenterology and HepatologyAcademic Medical CenterAmsterdamThe [email protected]

KATRIEN JANSSENS

Department of Medical GeneticsUniversity of AntwerpAntwerpBelgium

List of Contributors xliii

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MICHAEL A. JANTZ

Division of Pulmonary and Critical Care MedicineUniversity of FloridaGainesville, [email protected]

JEAN-MICHEL ROZET

Unité de Recherches Génétique et Epigénétique des MaladiesMétaboliques, Neurosensorielles et du DéveloppementINSERMHôpital des Enfants [email protected]

WILLIAM JEFFCOATE

Foot Ulcer Trials UnitDepartment of Diabetes and EndocrinologyCity [email protected]

VIVEKANAND JHA

Department of NephrologyPostgraduate Institute of Medical Education and [email protected]

RUI-CHENG JIDepartment of Anatomy, Biology and MedicineOita [email protected]

QIUJIE JIANG

Department of Dermatology and Cutaneous BiologyJefferson Medical CollagePhiladelphia, [email protected]

SERGIO A. JIMENEZ

Jefferson Institute of Molecular Medicine and Division ofConnective Tissue DiseasesDepartment of Dermatology and Cutaneous BiologyThomas Jefferson UniversityPhiladelphia, [email protected]

LING JING

Institute of Endemic DiseasesNorman Bethune College of Medical SciencesJilin UniversityChangchunP.R. [email protected]

HYDER A. JINNAH

Johns Hopkins University Medical SchoolBaltimore, [email protected]

MARTIN T. JOHN

St. Vincent’s Institute of Medical ResearchMelbourne, [email protected]

COLIN A. JOHNSON

Section of Ophthalmology and NeurosciencesLeeds Institute of Molecular MedicineSt James’s University [email protected]

GRAEME JONES

Musculoskeletal UnitMenzies Research InstituteHobart, [email protected]

FRANÇOIS JOURET

Division of NephrologyUniversité Catholique de [email protected]

KARIN JURKAT-ROTT

Department of Applied PhysiologyUlm [email protected]

PRADEEP V. KADAMBI

Section of NephrologyUniversity of ChicagoChicago, ILUSA

JENS J. KADEN

1st Department of MedicineFaculty of Clinical MedicineUniversity of Heidelberg at [email protected]

RICHARD J. KAHNOSKI

Department of UrologySpectrum HealthGrand Rapids, MIUSA

xliv List of Contributors

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ZBIGNIEW KALARUS

First Department of CardiologySilesian Medical SchoolSilesian Center for Heart [email protected]

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, [email protected]

HIDETO KAMEDA

Division of Rheumatology/Clinical ImmunologyDepartment of Internal MedicineSaitama Medical CenterSaitama Medical [email protected]

NADA KANAAN

Departments of Nephrology and RadiologyCliniques Universitaires [email protected]

HO SUNG KANG

Department of Molecular BiologyCollege of Natural SciencesPusan National [email protected]

Y. JAMES KANG

Departments of Medicine, Pharmacology and ToxicologyUniversity of Louisville School of MedicineLouisville, [email protected]

BHARAT K. KANTHARIA

Division of Cardiac ElectrophysiologyThe University of Texas Health Science CenterHouston, [email protected]

CHAM PION KAO

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

BRUCE KAPLAN

University of Illinois at Chicago Transplant CenterChicago, [email protected]

HENRY J. KAPLAN

Department of Ophthalmology and Visual SciencesUniversity of LouisvilleLouisville, [email protected]

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 [email protected]

CLIFFORD E. KASHTAN

Department of PediatricsUniversity of Minnesota Medical SchoolMinneapolis, [email protected]

SURENDER KASHYAP

Department of Pulmonary MedicineIndira Gandhi Medical [email protected]

JAN KASSUBEK

Department of NeurologyUniversity of [email protected]

List of Contributors xlv

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HIDEKI KATO

Division of Nephrology and EndocrinologyUniversity of Tokyo School of [email protected]

SHOICHI KATSURAGI

National Kikuchi [email protected]

DIETER KAUFMANN

Department of Human GeneticsUniversity of [email protected]

RAILI KAUPPINEN

Porphyria Research CentreBiomedicum-HelsinkiUniversity of [email protected]

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 [email protected]

JAMES C. KEITH, JR.Wyeth ResearchDiscovery Translational MedicineCollegeville, [email protected]

ELIZABETH M. KEITHLEY

Department of Otolaryngology, Head and Neck SurgeryUniversity of California, San Diego School of MedicineLa Jolla, [email protected]

JUTTA KELLER

Medical Department, Israelitic HospitalAcademic Hospital of the University of [email protected]

NANCY R. KELLER

Autonomic Dysfunction CenterVanderbilt UniversityNashville, [email protected]

ANDREA KELLY

Division of EndocrinologyChildren’s Hospital of PhiladelphiaUniversity of Pennsylvania School of MedicinePhiladelphia, [email protected]

WERNER KEMPF

Department of DermatologyUniversity Hospital [email protected]

STEPHAN DISEAN KENDALL

Medicine, Pharmacology and Cancer BiologyDuke UniversityDurham, [email protected]

NIR KFIR

Tel Hai CollegeSchool of Bio-TechnologyUpper [email protected]

MOHAMMAD KHALID

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

MARKUS KHALIL

Department of Pediatric CardiologyUniversity Hospital of [email protected]

STEFAN KIECHL

Department of NeurologyUniversity Clinic [email protected]

xlvi List of Contributors

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KIRSTY KIEZEBRINK

University of [email protected]

STEFAN KINS

ZMBHUniversity of [email protected]

MARGARET L. KIRBY

Department of Pediatrics, NPRIDuke UniversityDurham, [email protected]

GUDULA KIRTSCHIG

Department of DermatologyVU Medical CentreAmsterdamThe [email protected]

JÖRG KLEEFF

Department of General SurgeryUniversity of [email protected]

CHRISTINE KLEIN

Department of NeurologyUniversity of [email protected]

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, [email protected]

STEFAN KÖLKER

Department of General Pediatrics, Division of InbornMetabolic DiseasesUniversity Children’s [email protected]

THOMAS KLOCKGETHER

Department of NeurologyUniversity Hospital [email protected]

THOMAS KLOPSTOCK

Department of NeurologyFriedrich-Baur-Institute and Ludwig-Maximilians-University [email protected]

JOCHEN KLUCKEN

Department of NeurologyUniversity of [email protected]

URSULA KNIRSCH

ALS-ClinicKantonsspital St. GallenSt. [email protected]

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 [email protected]

THOMAS KNOLL

Department of UrologyMannheim University [email protected]

MARKUS KNUF

Pediatric University HospitalJohannes-Gutenberg UniversityMainzGermany

ALAN P. KNUTSEN

Division of Allergy/ImmunologyDepartment of PediatricsSaint Louis University Health Sciences CenterSt. Louis, [email protected]

List of Contributors xlvii

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CHRISTIAN A. KOCH

Division of EndocrinologyUniversity of Mississippi Medical CenterJackson, [email protected]

NORMAN KOCK

Department of NeurologyUniversity of [email protected]

RICHARD KOCH

Department of GeneticsChildren’s Hospital Los AngelesLos Angeles, [email protected]

MICHAEL KOENEN

MPI for Medical [email protected]

SUSANNE KOHL

Molecular Genetics LaboratoryInstitute for Ophthalmic ResearchCenter for OphthalmologyUniversity of [email protected]

JÜRGEN KOHLHASE

Center for Human [email protected]

RÜDIGER KÖHLING

Institute of PhysiologyUniversity of [email protected]

ALFRIED KOHLSCHÜTTER

Department of PediatricsUniversity Medical Center [email protected]

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 [email protected]

GENOVEFA D. KOLOVOU

First Cardiology DepartmentOnassis Cardiac Surgery [email protected]

THOMAS KOLTER

LIMES Program Unit Membrane Biology & LipidBiochemistryKekulé-InstituteUniversity BonnBonnGermany

TATSURO KONDOH

Department of PediatricsNagasaki University School of [email protected]

BRUCE C. KONE

Departments of Internal Medicine and Integrative Biology,Pharmacology and PhysiologyThe University of Texas Medical School at HoustonHouston, [email protected]

YRJÖ KONTTINEN

Department of MedicineBiomedicum, University of [email protected]

JÜRGEN KOPITZ

Institute of PathologyUniversity of HeidelbergHeidelbergGermany

PETER KOPP

Feinberg School of MedicineNorthwestern UniversityChicago, ILUSA

xlviii List of Contributors

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CENGIZ KORKMAZ

Department of Internal MedicineEskisehir Osmangazi [email protected]

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 [email protected]

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 [email protected]

THOMAS KRIEG

Department of DermatologyUniversity [email protected]

GABRIELE A. KROMBACH

Department of Diagnostic RadiologyUniversity [email protected]

ABHIJIT V. KSHIRSAGAR

Division of Nephrology and HypertensionUniversity of North Carolina School of MedicineChapel Hill, [email protected]

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 [email protected]

WOLFGANG KÜHN

Department of NephrologyUniversity Medical Center [email protected]

RAJIV KUMAR

Department of Internal MedicineMayo Clinic and FoundationRochester, [email protected]

RAKESH KUMAR

Department of SurgeryAll India Institute of Medical SciencesNew DelhiIndia

KARL KUNZELMANN

Department of PhysiologyUniversity of [email protected]

SUSAN KUPKA

Department of General, Visceral and Transplant SurgeryUniversity Hospital of [email protected]

List of Contributors xlix

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SHIGEO KURE

Department of Medical GeneticsTohoku University School of MedicineSendaiJapan

GERHARD KURLEMANN

University of MuensterChildren’s [email protected]

NAOTO KURODA

Department of Pathology and Clinical LaboratoryKochi Red Cross [email protected]

SIM KUTLAY

Department of NephrologyAnkara University School of MedicineAnkaraTurkey

SHARON LA FONTAINE

Centre for Cellular and Molecular BiologySchool of Life and Environmental SciencesDeakin UniversityBurwood, [email protected]

CARLO A. LACKERBAUER

Eye ClinicLudwig-Maximilians-University MunichMunichGermany

KAR NENG LAI

Department of MedicineThe University of Hong KongHong [email protected]

NIGEL G. LAING

Molecular Neurogenetics LabUniversity of Western AustraliaCentre for Medical ResearchQueen Elizabeth II Medical CentreNedlands, [email protected]

SEEMA R. LALANI

Department of Molecular and Human GeneticsBaylor College of MedicineHouston, [email protected]

BENOÎT LAMARCHE

Institute on Nutraceuticals and Functional FoodsLaval UniversityQuébec, [email protected]

FRANK LAMMERT

Department of Internal Medicine IUniversity Hospital [email protected]

VALÉRIA LAMOUNIER-ZEPTER

Medical Clinic IIIUniversity of [email protected]

ANNE KATRIN LAMPE

South East of Scotland Clinical Genetic ServiceWestern General [email protected]

KATJA LAMPINEN

Department of Obstetrics and GynecologyKarolinska University [email protected]

RISTO KAAJA

Department of Obstetrics and GynecologyHelsinki University [email protected]

RADOSŁAW LENARCZYK

First Department of CardiologySilesian Medical SchoolSilesian Center for Heart [email protected]

DANIEL LANDAU

Department of PediatricsSoroka University Medical CenterBeer [email protected]

G. BERNHARD LANDWEHRMEYER

Department of NeurologyUlm [email protected]

l List of Contributors

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FLORIAN LANG

Department of PhysiologyUniversity of [email protected]

GABRIELE E. LANG

University Eye Hospital [email protected]

KARL S. LANG

Ontario Cancer InstituteUniversity Health NetworkToronto, ONCanada

UNDINE E. LANG

Department of Psychiatry and PsychotherapyCharité University Medicine [email protected]

LIDIA LARIZZA

Division of Medical GeneticsSan Paolo School of MedicineUniversity of [email protected]

A. J. LARNER

Cognitive Function ClinicWalton Centre for Neurology and [email protected]

ZVI LARON

Schneider Children’s Medical CenterPetah Tikva/Tel [email protected]

HENRIK LARSSON

Department of Medical Epidemiology and BiostatisticsKarolinska [email protected]

SYLVAIN LATOUR

INSERMHôpital [email protected]

LARRY LATSON

Department of Pediatric CardiologyCleveland Clinic FoundationCleveland, [email protected]

ELANA LAVINE

Division of Immunology and AllergyThe Hospital for Sick ChildrenToronto, ONCanada

YVES LE LOIR

Laboratoire de MicrobiologieUMR STLO, [email protected]

MARTINE LE MERRER

Département de GénétiqueINSERMHôpital Necker [email protected]

ALEXANDER LEAF

Harvard Medical SchoolCharlestown, [email protected]

LINDA LEATHERBURY

Children’s National Medical CenterCGMRWashington, DCUSA

MAXIMILIAN LEDOCHOWSKI

Department of Nutritional MedicineMedical University of [email protected]

CHAEYOUNG LEE

Ilsong Institute of Life ScienceHallym UniversityAnyangSouth [email protected]

JYH-YEUAN LEE

Department of Cell Biology and BiochemistryTexas Tech University Health Sciences CenterLubbock, [email protected]

List of Contributors li

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RICHARD S. LEGRO

Department of Obstetrics and GynecologyCollege of MedicinePennsylvania State UniversityHershey, [email protected]

ANNA-ELINA LEHESJOKI

Folkhälsan Institute of Genetics and Neuroscience CenterUniversity of [email protected]

FRANK LEHMANN-HORN

Department of Applied PhysiologyUlm [email protected]

MICHAEL J. LENARDO

Molecular Development SectionLaboratory of ImmunologyNIAID, NIHBethesda, [email protected]

JAMES V. LEONARD

Clinical and Molecular Genetics UnitInstitute of Child HealthUniversity College [email protected]

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 [email protected]

DEREK LEROITH

Division of Endocrinology,Diabetes and Bone DiseasesMount Sinai School of MedicineNew York, [email protected]

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 [email protected]

ALEXANDER A. C. LEUNG

Department of MedicineThe University of AlbertaEdmonton, [email protected]

ALEXANDER K. C. LEUNG

Department of PediatricsAlberta Children’s HospitalThe University of CalgaryCalgary, [email protected]

KLAUS LEY

Robert M. Berne Cardiovascular Research Center andDepartments of Biomedical Engineering, MolecularPhysiology and Biological PhysicsUniversity of VirginiaCharlottesville, [email protected]

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

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GUANG-SHENG LI

Institute of Endemic DiseasesNorman Bethune College of Medical SciencesJilin UniversityChangchunP.R. [email protected]

JIANG LI

Medical Clinic IIIMedical Faculty Carl Gustav CarusTechnical University DresdenDresdenGermany

CHRISTOPH LICHT

Department of NephrologyThe Hospital for Sick ChildrenToronto, [email protected]

VOLKER LIEBE

1st Department of MedicineFaculty of Clinical MedicineMannheim University of [email protected]

KATRINA LIGHT

Department of Psychological MedicineChristchurch School of Medicine and Health SciencesUniversity of OtagoChristchurchNew [email protected]

RICHARD W. LIGHT

Division of Allergy, Pulmonary, and Critical Care MedicineVanderbilt UniversityNashville, [email protected]

XIAOBO LIN

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

YOU SHUEI LIN

Department of PhysiologyTaipei Medical [email protected]

KATRIN S. LINDENBERG

Department of NeurologyUlm [email protected]

MALIN LINDSTEDT

Department of ImmunotechnologyLund [email protected]

DANIEL C. LINK

Division of OncologyDepartment of MedicineWashington UniversitySt. Louis, [email protected]

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 [email protected]

MARITA LIPSANEN-NYMAN

The Hospital for Children and AdolescentsUniversity of [email protected]

WALTER LISCH

Department of OphthalmologyKlinikum [email protected]

JIRI LITZMAN

Department of Clinical Immunology and AllergologyMasaryk UniversitySt. Anne’s University HospitalBrnoCzech [email protected]

CECILIA LO

Laboratory of Developmental BiologyNational Heart Lung Blood InstituteNational Institutes of HealthBethesda, [email protected]

List of Contributors liii

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BRIGITTE M. LOBNIG

Department of Endocrinology, Diabetology andRheumatologyUniversity of [email protected]

HANNS LOCHMÜLLER

Institute of Human GeneticsNewcastle UniversityInternational Centre for LifeNewcastle upon [email protected]

JOHN LOGAN

Belfast City [email protected]

KATJA LOHMANN

Department of NeurologyUniversity of LuebeckLuebeckGermany

DIETMAR LOHMANN

Department of Human GeneticsUniversity [email protected]

DAVID A. LOMAS

Department of MedicineUniversity of CambridgeCambridge Institute for Medical [email protected]

MIRANDA LOMER

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

NICOLA LONGO

Medical Genetics/PediatricsUniversity of UtahSalt Lake City, [email protected]

ANDREA LO MONACO

Sezione di ReumatologiaUniversità di FerraraFerraraItaly

DU TOIT LOOTS

Department of Nutrition School of Physiology, Nutrition andConsumers ScienceNorth-West UniversityPotchefstroomSouth [email protected]

ISCIA LOPES-CENDES

Department of Medical GeneticsUniversity of Campinas - UNICAMPCampinas, [email protected]

FRANCISCO J. LÓPEZ-SORIANO

Departament de Bioquímica i Biologia MolecularUniversitat de BarcelonaBarcelonaSpain

CARMEN LOQUAI

Department of Dermatology, Allergology and VenerologyUniversity of [email protected]

AXEL LORENTZ

Nutritional Medicine and PreventionUniversity of [email protected]

BIRGIT LORENZ

Department of Pediatric Ophthalmology, Strabismology andOphthalmogeneticsUniversity of Regensburg Medical [email protected]

RICHARD LORENZ

Department of Internal MedicineUlm [email protected]

JOHANN LORENZEN

Institute of PathologyClinic of Dortmund gGmbHDortmundGermany

ELAN D. LOUIS

Department of NeurologyGertrude H. Sergievsky CenterCollege of Physicians and SurgeonsColumbia UniversityNew York, [email protected]

liv List of Contributors

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JULIA LÜBLIGHOFF

III. Medical DepartmentUniversity of LeipzigLeipzigGermany

THOMAS LÜCKE

Department of PediatricsHannover Medical [email protected]

MICHAELA LUCONI

Department of Clinical PhysiopathologyUniversity of [email protected]

ALBERT C. LUDOLPH

Department of NeurologyUniversity of [email protected]

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 [email protected]

JOËL LUNARDI

Laboratoire de Biochimie et Génétique MoléculaireCHU GrenobleGrenobleFrance

TORD M. LUNDGREN

Department of PeriodonticsLoma Linda UniversityLoma Linda, [email protected]

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, [email protected]

SIOBHAN D. MA

Royal College of SurgeonsDublinIreland

NAIM M. MAALOUF

Center for Mineral Metabolism and Clinical ResearchUniversity of Texas Southwestern Medical CenterDallas, [email protected]

SUSANNA MAC

Department of Chemistry and BiochemistryUniversity of CaliforniaSan Diego, [email protected]

JOHN F. MACGREGOR

Division of CardiologyUniversity of UtahSalt Lake City, [email protected]

JESUS MACHADO-SALAS

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

COLIN R. MACKENZIE

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

List of Contributors lv

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JAMIE MAGUIRE

Departments of Neurology and PhysiologyThe University of CaliforniaLos Angeles, CAUSA

VIKRAM K. MAHAJAN

Department of Dermatology,Venereology & LeprosyIndira Gandhi Medical [email protected]

HEIMO MAIRBÄURL

Department of Internal Medicine VIIDivision of Sports MedicineMedical University [email protected]

STEPHEN N. MAKONI

Trinity Cancer CareMinot, [email protected]

CARLOTTA MALAGOLI

Department of Public Health SciencesUniversity of Modena and Reggio EmiliaModenaItaly

MARCUS MALL

Department of Pediatric Oncology, Hematology,Immunology and PulmonologyUniversity of [email protected]

MARIO MANCINI

Andrology Unit, San Paolo HospitalUniversity of [email protected]

ROBERTO MANFREDI

Infectious Diseases“Alma Mater Studiorum” University of BolognaS. Orsola [email protected]

HENRY J. MANKIN

Department of Orthopedic SurgeryMassachusetts General HospitalBoston, [email protected]

NIRMAL S. MANN

School of MedicineUniversity of CaliforniaSacramento, [email protected]

BRIAN C. MANSFIELD

Correlogic Systems, Inc.Rockville, MDUSA

MASSIMO MANTEGAZZA

Deparment of NeurophysiopathologyIstituto Neurologico [email protected]

MARINA MARCHETTI

Laboratory for Clinical Thrombosis and HemostasisDepartment of Internal MedicineMaastricht UniversityMaastrichtThe Netherlands

BATSHEVA MARCOS

The Dermatology UnitKaplan Medical CenterRechovotIsrael

ANTHONY M. MARINAKI

Purine Research LaboratorySt. Thomas [email protected]

MARK A. MARINELLA

Department of Internal MedicineWright State University School of MedicineDayton, [email protected]

CARLA MARINI

Pediatric Neurology and Neurogenetics Unit andLaboratories Children’s Hospital A. [email protected]

FRANCESCA MARINI

Regional Center for Hereditary Endocrine TumoursDepartment of Internal MedicineUniversity of FlorenceFlorenceItaly

lvi List of Contributors

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BRUNO MARINO

Pediatric Cardiology, Department of PediatricsUniversity La [email protected]

ARIE MARKEL

Department of Internal Medicine AHaemek Medical [email protected]

DANIEL MARKOVICH

School of Biomedical SciencesUniversity of QueenslandBrisbane, [email protected]

MARCO A. MARRA

Genome Sciences CentreBC Cancer AgencyVancouver, [email protected]

WALLACE F. MARSHALL

Department of Biochemistry & BiophysicsUniversity of CaliforniaSan Francisco, [email protected]

DIANNA C. MARTIN

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, [email protected]

F. ELIZABETH MARTIN

Faculty of DentistryThe University of SydneySydney, [email protected]

IRIS E. MARTINEZ-JUAREZ

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

TOMMY MARTINSSON

Department of ClinicalSahlgrenska University HospitalGö[email protected]

WINFRIED MÄRZ

Synlab Center of Laboratory [email protected]

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, [email protected]

YOICHI MATSUBARA

Departments of Pediatrics and Medical GeneticsTohoku University School of [email protected]

NAOMICHI MATSUMOTO

Department of Human GeneticsYokohama City Graduate School of [email protected]

SHIRO MATSUMOTO

Department of PediatricsKumamoto University Graduate School of Medical ScienceKumamotoJapan

NILANJANA MAULIK

Molecular Cardiology and Angiogenesis LaboratoryDepartment of SurgeryUniversity of Connecticut Health CenterFarmington, [email protected]

KIRK J. MAURER

Gastroenterology DivisionHarvard Medical SchoolBrigham and Women’s HospitalBoston, MAUSA

List of Contributors lvii

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MARIA ANTONIETTA MAZZEI

Department of RadiologyUniversity of [email protected]

FREDDY MBOTI

Medico-Surgical Department of GastroenterologyULB-Erasme [email protected]

TOMMIE V. MCCARTHY

Department of BiochemistryUniversity College [email protected]

F. DENNIS MCCOOL

Pulmonary Critical Care MedicineMemorial Hospital of Rhode IslandPawtucket, [email protected]

M. ELIZABETH MCCREADY

Ottawa Health Research InstituteOttawa, ONCanada

HEATHER E. MCDERMID

Department of Biological SciencesUniversity of AlbertaEdmonton, [email protected]

RITA L. MCGILL

Department of MedicineTeine Keijinkai HospitalTeine, [email protected]

JOHN A. MCGRATH

Genetic Skin Disease GroupSt John’s Institute of DermatologyGuy’s [email protected]

BERNADETTE MCGUINNESS

Belfast City HospitalBelfastUK

IAIN B. MCINNES

Division of Immunology, Infection and InflammationGlasgow Biomedical Research CentreUniversity of [email protected]

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, [email protected]

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, [email protected]

LAXMI S. MEHTA

Division of CardiologyDepartment of Internal MedicineThe Ohio State UniversityColumbus, [email protected]

HANS-MICHAEL MEINCK

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

ROBERT J. MEISLIN

NYU Hospital for Joint DiseasesNew York, [email protected]

lviii List of Contributors

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EITAN MELAMED

Rabin Medical CenterPetach TikwaIsrael

MARIA MELARAGNO

Department of Liver Transplantation and HepatobiliarySurgeryRoyal Free HospitalHampstead, [email protected]

KIRSTAN K. MELDRUM

Department of Pediatric UrologyJames Whitcomb Riley Hospital for ChildrenIndiana University Medical CenterIndianapolis, [email protected]

DAMIAN C. MELLES

Department of Medical Microbiology and Infectious DiseasesErasmus University Medical CentreRotterdamThe [email protected]

ARTHUR MELMS

Department of General Neurologyand Hertie-Institute for Clinical Brain ResearchUniversity of [email protected]

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, [email protected]

DEBORAH P. MERKE

Warren Grant Magnuson Clinical Center and The EuniceKennedy Shriver National Institute of Child Health andHuman DevelopmentNational Institutes of HealthBethesda, [email protected]

GEORG MERKER

Clinic of Gastroenterology, Hepatology and InfectiologyUniversity [email protected]

DIETER METZE

Department of DermatologyUniversity Hospital of [email protected]

CHRISTOPH MICHALSKI

Department of General SurgeryUniversity of HeidelbergHeidelbergGermany

VANNA MICHELI

Department of Molecular BiologyUniversity of [email protected]

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 [email protected]

EMINE DIBEK MISIRLIOĞLU

Department of PediatricsKırıkkale University Faculty of MedicineKırı[email protected]

List of Contributors lix

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ROSALIA MISSERI

Children’s Hospital of New YorkPresbyterian HospitalWeill Cornell Medical CollegeNew York, [email protected]

LAURA E. MITCHELL

Institute of Biosciences and TechnologyTexas A&M University System Health Science CenterHouston, [email protected]

HIROSHI MITSUBUCHI

Department of PediatricsKumamoto University Graduate School of Medical ScienceKumamotoJapan

YOHEI MIYAGI

Molecular Pathology and Genetics DivisionKanagawa Cancer Center Research [email protected]

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 [email protected]

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 [email protected]

DONALD M. MOCK

Department of Biochemistry and Molecular BiologyUniversity of Arkansas for Medical SciencesLittle Rock, [email protected]

ISTVAN MODY

Departments of Neurology and PhysiologyThe University of CaliforniaLos Angeles, [email protected]

JENS MOGENSEN

Department of CardiologyAarhus University [email protected]

MOOSA MOHAMMADI

Department of PharmacologyNew York University School of MedicineNew York, [email protected]

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 [email protected]

NESTOR A. MOLFINO

Otsuka Maryland Research InstituteRockville, [email protected]

INGRID MOLL

Department of Dermatology, and VenerologyUniversity Hospital [email protected]

ANNE M. MOLLOY

Department of BiochemistryTrinity College [email protected]

lx List of Contributors

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MARIA JUDIT MOLNAR

Center for Molecular NeurologyDepartment of Neurology, [email protected]

JAN MONCOL

Faculty of Chemical and Food TechnologySlovak Technical [email protected]

MANUEL MONTESINOS-RONGEN

Department of NeuropathologyUniversity of [email protected]

TIMOTHY M. MOORE

Department of Internal MedicineUniversity of South Alabama College of MedicineMobile, [email protected]

NARAIN MOORJANI

Department of Cardiothoracic SurgeryJohn Radcliffe HospitalUniversity of [email protected]

DARIUS MORADPOUR

Division of Gastroenterology and HepatologyCentre Hospitalier Universitaire VaudoisLausanneSwitzerland

HIROMU MORI

Department of Diagnostic and Interventional RadiologyOita University Faculty of MedicineOitaJapan

MICHAEL L. MORITZ

Division of NephrologyChildren’s Hospital of PittsburghPittsburgh, [email protected]

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 [email protected]

KATHRYN MOSELEY

CHEARUniversity of Michigan Medical SchoolAnn Arbor, [email protected]

S. HARVEY MUDD

NIHM/DIRP/LMBNational Institutes of HealthBethesda, [email protected]

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, [email protected]

List of Contributors lxi

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EGBERT MUNDT

Department of Population HealthUniversity of GeorgiaAthens, [email protected]

MARCO MURA

Malattie RespiratoriePoliclinico Tor [email protected]

FERID MURAD

Department of Integrative Biology and PharmacologyThe Medical SchoolUniversity Of Texas Health Sciences CenterHouston, [email protected]

PATRICK MURRAY

University of ChicagoChicago, [email protected]

GIOVANNA MUSCO

Dulbecco Telethon Institute, Biomolecular NMR Laboratoryc/o DIBIT S.Raffaele Scientific [email protected]

BENNETT MYERS

Dent Neurological InstituteOrchard Park, [email protected]

RIMA NABBOUT

Department of Pediatric NeurologyHôpital Necker Enfants [email protected]

MANGALA A. NADKARNI

Institute of Dental Research, Westmead Millennium Instituteand Westmead Centre for Oral HealthWestmead HospitalWestmead, [email protected]

MIKI NAGASE

Department of Nephrology and EndocrinologyUniversity of Tokyo Graduate School of [email protected]

YOJI NAGASHIMA

Department of Molecular PathologyYokohama City University Graduate School of [email protected]

YASUAKI NAKAGAWA

Department of Orthopedic SurgeryFaculty of MedicineKyoto [email protected]

KIMITOSHI NAKAMURA

Department of PediatricsKumamoto University Graduate School of Medical [email protected]

M. MURAT NAKI

Department of Obstetrics and GynecologyGöztepe Research and Education [email protected]

MALLIKARJUNA NALLEGOWDA

Department of Physical Medicine and RehabilitationAll India Institute of Medical SciencesNew [email protected]

JAE-HWAN NAM

Laboratory of Viral ImmunologyDepartment of BiotechnologyThe Catholic University of KoreaBucheon, [email protected]

THOMAS NAMDAR

Department of General, Visceral and Pediatric SurgeryUniversity Hospital DuesseldorfHeinrich-Heine [email protected]

MASAOMI NANGAKU

Division of Nephrology and EndocrinologyUniversity of Tokyo School of [email protected]

CARLO PACE NAPOLEONE

Pediatric Cardiac Surgery UnitS. Orsola-Malpighi HospitalBolognaItaly

lxii List of Contributors

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DOROTHEE NASHAN

Department of DermatologyUniversity of FreiburgFreiburgGermany

SIRAJEDIN NATAH

Gastrointestinal Research GroupDepartment of Physiology & BiophysicsThe University of CalgaryCalgary, [email protected]

YESIM NEGIS

Vascular Biology LaboratoryJM USDA-HNRCATufts University BostonBoston, MSUSA

BERND A. NEUBAUER

Department of Pediatric NeurologyChildren’s Medical CenterUniversity of Giessen and [email protected]

JOHN NEWSOM-DAVIS*Weatherall Institute of Molecular Medicine, John RadcliffeHospital, Department of Clinical NeurologyUniversity of [email protected]

TAM NGUYEN

University of [email protected]

SOPHIE NICOLE

InsermUniversité Pierre et Marie [email protected]

FRANCK E. NICOLINI

Hematology DepatmentEdouard Herriot [email protected]

CHRISTOPHE NICOT

Department of Microbiology, Immunology and MolecularGeneticsUniversity of Kansas Medical CenterKansas City, [email protected]

HANS HELMUT NILLER

Institute of Medical MicrobiologyUniversity of RegensburgRegensburgGermany

INGO NINDL

Applied TumorvirologyGerman Cancer Research Center (DKFZ)[email protected]

TOSHIO NISHIKIMI

Department of Hypertension and Cardiorenal MedicineDokkyo Medical UniversityMibu, [email protected]

KOICHIRO NIWA

Department of PediatricsChiba Cardiovascular [email protected]

SOHEYL NOACHTAR

Section of SleepDepartment of NeurologyUniversity of [email protected]

DONATUS NOHR

Department of Biological Chemistry and NutritionUniversity [email protected]

CHARLES R. NOLAN

Department of Medicine & SurgeryUniversity of Texas Health Sciences CenterSan Antonio, [email protected]

JOHANNES C. NOSSENT

Department of RheumatologyInstitute Clinical MedicineUniversity of Tromsø and University Hospital North NorwayTromsø[email protected]* deceased

List of Contributors lxiii

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MARKUS M. NÖTHEN

Department of Genomics, Life and Brain CenterUniversity of [email protected]

CARLO NUNES

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

JEAN-MARC NUOFFER

Institute of Clinical ChemistryInselspitalBern University Hospital and University of [email protected]

WILLIAM L. NYHAN

Department of PediatricsUniversity of California at San DiegoLa Jolla, [email protected]

ABRAHAM NYSKA

Sackler School of MedicineTel Aviv UniversityTel [email protected]

JOHANN OCKENGA

Department of Gastroenterology,Hepatology and EndocrinologyCharité University [email protected]

MARK OETTE

Clinic for Gastroenterology, Hepatology, and InfectiousDiseasesUniversity Clinic [email protected]

GOO TAEG OH

Laboratory of Cardiovascular GenomicsEwha Womans [email protected]

VINZENZ OJI

Department of DermatologyUniversity Hospital of [email protected]

FUMITO OKADA

Department of Diagnostic and Interventional RadiologyOita University Faculty of [email protected]

LAJOS OKOLICSANYI

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

ANDERS OLDFORS

Department of PathologySahlgrenska University HospitalGö[email protected]

ALEXANDER OLIVARES-REYES

Guerriari Heart & Cardiovascular InstitutePenisula Regional Medical CenterSalisbury, [email protected]

DARIO OLIVIERI

Department of Clinical SciencesRespiratory Disease SectionUniversity of ParmaParmaItaly

BOB OLSSON

Hematology Section, Department of Internal MedicineSahlgrenska University [email protected]

ANDO ASAMI ONO

Department of Diagnostic and Interventional RadiologyOita University Faculty of MedicineOitaJapan

GUIDO OPPIDO

Pediatric Cardiac Surgery UnitS. Orsola-Malpighi [email protected]

JORDAN S. ORANGE

Children’s Hospital of PhiladelphiaPhiladelphia, [email protected]

lxiv List of Contributors

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EDITH ORION

The Dermatology UnitKaplan Medical CenterRechovotIsrael

LEONARD O’SULLIVAN

Ergonomics Research GroupManufacturing and Operations Engineering DepartmentUniversity of [email protected]

CHRISTY T. OSWALT

Division of EndocrinologyUniversity of Mississippi Medical CenterJackson, MSUSA

PAUL A. OVERBEEK

Department of Molecular and Cellular BiologyBaylor College of MedicineHouston, [email protected]

INGRID PABINGER

Division of Hematology and HemostaseologyDepartment of Internal Medicine IMedical University [email protected]

KAREL PACAK

Clinical Neurocardiology SectionNINDS, National Institutes of HealthBethesda, MDUSA

GEORGE W. PADBERG

Department of NeurologyRadboud University Nijmegen Medical CentreNijmegenThe [email protected]

RODOLFO PAOLETTI

Department of Pharmacological SciencesUniversity of [email protected]

JAMES J. PAPARELLO

Division of Nephrology and HypertensionNorthwestern University Medical SchoolChicago, [email protected]

ELENA PARRINI

Pediatric Neurology and Neurogenetics Unit and LaboratoriesChildren’s Hospital A. [email protected]

RALF PASCHKE

Department of Internal Medicine IIIUniversity of [email protected]

MARZIA PASQUALI

Department of Pathology and ARUP Institute for Clinical andExperimental PathologySalt Lake City, [email protected]

MARIA RITA PASSOS-BUENO

Human Genome Research CenterDepartment of Genetics and Evolutionary BiologyInstitute of BiosciencesUniversity of São PauloSão [email protected]

LEV I. PATRUSHEV

Department of BiotechnologyShemyakin-Ovchinnikov Institute of Bioorganic [email protected]

DANIEL F. PAULY

Department of Medicine, Division of CardiovascularMedicineUniversity of FloridaGainesville, [email protected]

RALF PAUS

Department of Dermatology, Venerology and AllergyUniversity Hospital Schleswig-HolsteinUniversity of [email protected]

PIERO PAVONE

Department of PediatricsUniversity of [email protected]

List of Contributors lxv

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SIMON H. PEARCE

Institute of Human GeneticsInternational Centre for LifeUniversity of Newcastle upon TyneNewcastle upon [email protected]

JEAN-FRANÇOIS PELLISSIER

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

KATERINA TANYA B. PEREZ-GOSIENGFIAO

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

NILS PETERS

Department of NeurologyLudwig-Maximilians-University [email protected]

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 [email protected]

MARKUS PFISTER

Department of Otolaryngology and Head and Neck SurgeryUniversity of [email protected]

STEFAN PFISTER

Department of Pediatric Oncology, Hematology andImmunologyUniversity of [email protected]

FABIENNE PICARD

Department of NeurologyUniversity Hospital of [email protected]

BEN PICKARD

Medical Genetics Section, Molecular Medicine CentreUniversity of EdinburghWestern General [email protected]

CHIARA PIERANTONI

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

MASSIMO PINZANI

Dipartimento di Medicina InternaUniversità degli Studi di [email protected]

ELENA PIOVESANA

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

ELENA PISCHIK

Porphyria Research CentreBiomedicum-HelsinkiUniversity of [email protected]

ASLA PITKÄNEN

Department of NeurobiologyA.I.Virtanen Institute for Molecular SciencesUniversity of [email protected]

CLAUDIU PLESA

Hematology DepartmentEdouard Herriot [email protected]

STEFAN K. PLONTKE

Department of Otorhinolaryngology – Head and NeckSurgeryUniversity of [email protected]

lxvi List of Contributors

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T. BALAKRISHNA PODUVAL

Immunology and Hyperthermia SectionRadiation Biology and Health Sciences DivisionBhabha Atomic Research [email protected]

DON POLDERMANS

ThoraxcenterDepartment of CardiologyErasmus Medical Center RotterdamRotterdamThe [email protected]

BWEE TIEN POLL-THE

Department of Pediatric NeurologyEmma Children’s HospitalAcademic Medical CenterAmsterdamThe [email protected]

ZORAN V. POPOVIC

Department of Cellular and Molecular PathologyGerman Cancer Research CenterUniversity of [email protected]

JAMES M. POWERS

Department of Pathology, School of Medicine and DentistryUniversity of RochesterRochester, [email protected]

CHRISTIAN POX

Medical DepartmentRuhr-University [email protected]

AINU PRAKASH-CHENG*Department of Genetics and Genomic SciencesMount Sinai School of Medicine of New York UniversityNew York, [email protected]

HILMAR PRANGE

Department of NeurologyGeorg-August-University [email protected]

ANANDA S. PRASAD

Department of Medicine, Division of Hematology-OncologyWayne State UniversityUniversity Health CenterDetroit, [email protected]

MARKUS N. PREISING

Department of Pediatric Ophthalmology, Strabismology andOphthalmogeneticsUniversity of Regensburg Medical [email protected]

NOEL W. PRESTON

Microbial ImmunologyUniversity of [email protected]

DOMINIQUE PRIÉ

INSERMUniversity of [email protected]

LOURDES PRIETO

Department of Congenital Heart DiseaseCleveland Clinic FoundationCleveland, [email protected]

SILVIA G. PRIORI

Molecular CardiologyIRCCS Fondazione [email protected]

PETER PROPPING

Institute of Human GeneticsUniversity of [email protected]

TREVOR J. PUGH

Genome Sciences CentreBC Cancer AgencyVancouver, BCCanada

HERVÉ PUY

Centre Français des PorphyriesINSERMHôpital Louis [email protected]* deceased

List of Contributors lxvii

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ROSALINE C. M. QUINLIVAN

Centre for Inherited Neuromuscular DisordersRobert Jones and Agnes Hunt Orthopaedic and DistrictHospital NHS [email protected]

JULIE RAGGIO

Department of MedicineGeorgetown UniversityWashington, DCUSA

OLAYINKA RAHEEM

Neuromuscular PathologyUniversity of [email protected]

SATISH R. RAJ

Vanderbilt UniversityMedical Center NorthNashville, TNUSA

SINGH RAJENDER

Centre for Cellular and Molecular BiologyHyderabadIndia

NANDHAGOPAL RAMACHANDIRAN

Pacific Parkinson’s Research CentreVancouver, [email protected]

HENA R. RAMAY

Pharmacology and Systems TherapeuticsMount Sinai School of MedicineNew York, NYUSA

YUVAL RAMOT

Hadassah – Hebrew University Medical [email protected]

TROY D. RANDALL

Trudeau InstituteSaranac Lake, [email protected]

JAVIER RANGEL-MORENO

Trudeau InstituteSaranac Lake, NYUSA

P. SYAMASUNDAR RAO

Division of Pediatric CardiologyThe University of Texas/Houston Medical SchoolChildren’s Memorial Hermann HospitalHouston, [email protected]

GUDRUN RAPPOLD

Institute of Human GeneticsUniversity of [email protected]

CARLA RAUTENBERG

Division of Rheumatology and Clinical ImmunologyUniversity Hospital [email protected]

ROBERTO RAVAZZOLO

Laboratory of Molecular GeneticsG. Gaslini InstituteDepartment of PediatricsUniversity of [email protected]

AMY S. RAWLS

Division of OncologyDepartment of MedicineWashington UniversitySt. Louis, MOUSA

DOMINIQUE RÉCAN-BUDIARTHA

Laboratoire de Biochimie et Génétique MoléculaireHôpital Cochin [email protected]

MIKE RECHER

Clinic for ImmunologyDepartment of Internal MedicineUniversity Hospital [email protected]

HARI REDDY

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

RICHARD J. REECE

Faculty of Life SciencesUniversity of ManchesterManchesterUK

lxviii List of Contributors

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DAVID C. REES

King’s College [email protected]

GUIDO REIFENBERGER

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

ROLAND REINEHR

Clinic for Gastroenterology, Hepatology and InfectiologyUniversity Hospital [email protected]

ANDRÉ REIS

Institute of Human GeneticsUniversity of [email protected]

JAN RÉMI

Section of SleepDepartment of NeurologyUniversity of [email protected]

BETTINA C. REULECKE

Department of PediatricsUniversity Hospital of [email protected]

ARNOLD REUSER

Department of Clinical GeneticsErasmus Medical CenterRotterdamThe [email protected]

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 [email protected]

JOACHIM RICHTER

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

ANNETTE RICHTER-UNRUH

Endokrinologikum [email protected]

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 [email protected]

KURT C. ROBERTS-THOMSON

Department of CardiologyRoyal Melbourne HospitalUniversity of MelbourneMelbourne, [email protected]

List of Contributors lxix

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DAVID ROBERTSON

Autonomic Dysfunction CenterVanderbilt UniversityNashville, [email protected]

DROR ROBINSON

Rabin Medical CenterPetach [email protected]

WIILIAM LANE M. ROBSON

The Childrens’ ClinicCalgary, [email protected]

VINCENZO ROCHIRA

Department of Medicine, Endocrinology & MetabolismGeriatricsUniversity of Modena and Reggio [email protected]

H. PETER RODEMANN

Division of Radiobiology & Molecular EnvironmentalResearchDepartment of Radiation OncologyEberhard-Karls [email protected]

DAN M. RODEN

Vanderbilt University School of MedicineNashville, [email protected]

CHAIM M. ROIFMAN

Division of Immunology and AllergyThe Hospital for Sick ChildrenToronto, [email protected]

JESSE ROMAN

Department of MedicineEmory University School of MedicineAtlanta, [email protected]

PIERRE RONCO

INSERM, [email protected]

ANGELIQUE L. ROPS

Nephrology Research LaboratoryNijmegen Centre for Molecular Life SciencesDivision of NephrologyRadboud University Nijmegen Medical CentreNijmegenThe [email protected]

TOM ROSSENBACKER

Molecular CardiologyIRCCS Fondazione MaugeriPaviaItaly

BERNARD C. ROSSIER

Department of Pharmacology and ToxicologyLausanne UniversityLausanneSwitzerland

ELIO ROTI

Istituto di EndocrinologiaUniversity of [email protected]

MARTIN ROTTER

Swiss Cardiovascular Center BernUniversity [email protected]

ANDREW ROZELLE

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

TODD D. ROZEN

Michigan Head-Pain and Neurological InstituteAnn Arbor, [email protected]

JAN ROZING

Department of Cell Biology, Immunology SectionUniversity Medical Center GroningenGroningenThe [email protected]

LEWIS J. RUBIN

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

lxx List of Contributors

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SABINE RUDNIK-SCHÖNEBORN

Institute of Human GeneticsAachen University of [email protected]

GUENTER RUDOLPH

Eye ClinicLudwig-Maximilians-University MunichMunichGermany

ISABELLE L. RUEL

Institute on Nutraceuticals and Functional FoodsLaval UniversityQuébec, QCCanada

KLAUS RUETHER

Department of Ophtalmology, CVKCharité[email protected]

ROBERT RUFFOLO

Research and DevelopmentWyeth ResearchCollegeville, [email protected]

RAINER RUPPRECHT

Department of PsychiatryLudwig-Maximilian-University [email protected]

TOBIAS A. RUPPRECHT

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

RICHARD L. SABINA

Medical College of WisconsinMilwaukee, [email protected]

MARCUS D. SÄEMANN

Department of Internal Medicine IIIDivision of Nephrology and DialysisMedical University of [email protected]

SEZER SAGLAM

Department of Medical OncologyOncology InstituteIstanbul [email protected]

GIUSEPPE SAGLIO

Department of Clinical and Biological SciencesUniversity of TurinS.Luigi [email protected]

AMRIK SAHOTA

Nelson Laboratory, Department of GeneticsRutgers UniversityPiscataway, [email protected]

HARJOT K. SAINI

St. Boniface General Hospital Research CentreUniversity of ManitobaWinnipeg, MBCanada

SHIMON SAKAGUCHI

Department of Experimental PathologyInstitute for Frontier Medical SciencesKyoto [email protected]

KHASHAYAR SAKHAEE

Center for Mineral Metabolism and Clinical ResearchUniversity of Texas Southwestern Medical CenterDallas, [email protected]

JORGE I. SALLUH

National Cancer InstituteRio de [email protected]

RÉMI SALOMON

Service de Néphrologie PédiatriqueHôpital Necker-Enfants MaladesParisFrance

ULRICH SALZER

Department of Medicine, Division of Rheumatology andClinical ImmunologyUniversity Hospital [email protected]

List of Contributors lxxi

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MILLIE SAMANIEGO

University of Wisconsin School of Medicine and PublicHealthMadison, [email protected]

DIMITRIOS SAMONAKIS

Department of Liver Transplantation and HepatobiliarySurgeryRoyal Free HospitalHampstead, LondonUK

SEDA SANCAK

Marmara University Medical [email protected]

JEREMY SANDERSON

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

KONRAD SANDHOFF

LIMES Program Unit Membrane Biology and LipidBiochemistryKekulé InstituteBonn [email protected]

ANNA SARKOZY

Department of Experimental MedicineUniversity La Sapienza and CSS-Mendel [email protected]

NICHOLAS J. SARLIS

Department of Medical AffairsOncologyU.S. Pharma OpsSanofi-AventisBridgewater, [email protected]

HIROKAZU SASAKI

Department of Emergency and Critical Care MedicineTokyo Medical UniversityShinjuku, [email protected]

JEAN MARIE SAUDUBRAY

Hôpital Necker [email protected]

TILMAN SAUERBRUCH

Department of Internal Medicine IUniversity of [email protected]

REGINALD S. SAUVE

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

MARTIN O. SAVAGE

Pediatric Endocrinology SectionDepartment of EndocrinologySt. Bartholomew’s HospitalLondonUK

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, [email protected]

JOHN A. SAYER

Institute of Human GeneticsInternational Centre for LifeUniversity of Newcastle upon TyneNewcastle upon [email protected]

ANDROMACHI SCARADAVOU

Laboratory of Complement BiologyNew York Blood CenterNew York, [email protected]

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 [email protected]

lxxii List of Contributors

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JULIE V. SCHAFFER

Department of DermatologyNew York University School of MedicineNew York, [email protected]

KARIN SCHARFFETTER-KOCHANEK

Department of Dermatology and AllergologyUniversity of [email protected]

HUBERT SCHARNAGL

Clinical Institute of Medical and Chemical LaboratoryDiagnosticsMedical University of [email protected]

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 [email protected]

OLIVER SCHILDGEN

Department of VirologyInstitute for Medical Microbiology, Immunology, [email protected]

MEINHARD SCHILLER

Department of DermatologyUniversity [email protected]

MARTIN SCHILLINGER

Department of Internal Medicine II, Division of AngiologyUniversity of Vienna, Medical [email protected]

WOLFGANG SCHILLINGER

Heart CenterUniversity [email protected]

SIMONE SCHIMPF

Molecular Genetics LaboratoryInstitute for Ophthalmic ResearchCentre for OphthalmologyUniversity of [email protected]

AREND F. L. SCHINKEL

Thoraxcenter, Department of CardiologyErasmus Medical Center RotterdamRotterdamThe [email protected]

SVEN SCHINNER

Department of Endocrinology, Diabetes and RheumatologyUniversity Hospital DuesseldorfDuesseldorfGermany

ALBERT SCHINZEL

Institute of Medical GeneticsUniversity of [email protected]

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 [email protected]

List of Contributors lxxiii

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WOLFF SCHMIEGEL

Medical DepartmentRuhr-University [email protected]

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 [email protected]

SUSANNE SCHNITTGER

Munich Leukemia Laboratory (MLL)MunichGermany

JOHN-JOHN B. SCHNOG

Department of Internal MedicineSlotervaart HospitalAmsterdamThe [email protected]

HENDRIK P. N. SCHOLL

Department of OphthalmologyUniversity of [email protected]

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 [email protected]

GUSTAV SCHONFELD

Washington University in St. Louis School of MedicineSt. Louis, [email protected]

BENEDIKT G. H. SCHOSER

Department of NeurologyFriedrich-Baur-InstituteLudwig-Maximilians University [email protected]

RUTH SCHREIBER

Department of PediatricsSoroka University Medical CenterBeer ShevaIsrael

JOHANN MICHAEL SCHRÖDER

RWTH Aachen University [email protected]

ROLF SCHRÖDER

Department of NeurologyUniversity of [email protected]

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 [email protected]

KARSTEN SCHULMANN

Medical DepartmentRuhr-University [email protected]

lxxiv List of Contributors

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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 FranklinCharité[email protected]

JOHANNES SCHUMACHER

Institute of Human GeneticsUniversity of [email protected]

ULRIKE SCHUMACHER

Institute of Medical Microbiology and HygieneUniversity of TuebingenTuebingenGermany

KLAUS SCHÜMANN

Technical University [email protected]

DETLEF SCHUPPAN

Division of Gastroenterology and HepatologyBeth Israel Deaconess Medical CenterHarvard Medical SchoolBoston, [email protected]

ANDREA SCHUPPENIES

Medical Clinic IIIUniversity Hospital [email protected]

BÄRBEL SCHÜTTE

Department of DermatologyUniversity of [email protected]

GESA SCHWANITZ

Institute of Human GeneticsUniversity of [email protected]

ELISABETH L. SCHWARZ

Department of Pathology and ARUP Institute for Clinical andExperimental PathologySalt Lake City, [email protected]

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 [email protected]

THOMAS SCHWARZ

Department of DermatologyUniversity Hospital of Schleswig-HolsteinCampus [email protected]

FRITZ SCHWARZMANN

Institute of Medical MicrobiologyUniversity of RegensburgRegensburgGermany

NORBERT SCHWENZER

Department of Oral and Maxillofacial SurgeryEberhard-Karls-UniversityTuebingenGermany

List of Contributors lxxv

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HEINRICH SCHWINDT

Department of NeuropathologyUniversity of CologneCologneGermany

FRANCESCA SCIANDRA

CNR, Istituto di Chimica del Riconoscimento Molecolarec/o Istituto di Biochimica e Biochimica ClinicaUniversità Cattolica del Sacro [email protected]

C. RONALD SCOTT

Division of Medical GeneticsUniversity of WashingtonSeattle, [email protected]

JOHN M. SCOTT

Department of BiochemistryTrinity College [email protected]

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, [email protected]

RONNEN H. SEGMAN

Department of PsychiatryHadassah University [email protected]

JENS SEILER

Swiss Cardiovascular Center BernUniversity [email protected]

BERTHOLD SEITZ

Department of OphthalmologyUniversity of SaarlandHomburg/[email protected]

ANGELO SELICORNI

Department of Pediatrics, Hematology, Oncology andEndocrinologyMedical University of [email protected]

CARLO SELMI

Division of Rheumatology, Allergy and Clinical ImmunologyUniversity of California at DavisDavis, CAUSA

JOSEPH B. SELVANAYAGAM

Department of Cardiovascular MedicineFlinders Medical CentreBedford Park, [email protected]

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 [email protected]

MARCO SENZOLO

Gastroenterology Unit, Liver Transplantation Unit,Department of Surgical and Gastroenterological SciencesUniversity Hospital of [email protected]

JOSE M. SERRATOSA

Department of NeurologyFundación Jiménez Díaz and Universidad Autónoma [email protected]

GEORGES SERRATRICE

Service de Neurologie et Maladies [email protected]

lxxvi List of Contributors

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CAROLINE A. SEWRY

Centre for Inherited Neuromuscular DisordersRobert Jones and Agnes Hunt Orthopedic and DistrictHospital NHS [email protected]

MUAMMER SEYHAN

Department of DermatologyInonu [email protected]

ENGIN SEZER

Department of DermatologyGaziosmanpaşa University School of [email protected]

ARTI N SHAH

Division of Cardiac ElectrophysiologyMount Sinai School of MedicineElmhurst Hospital CenterElmhurst, NYUSA

ARIEH Y. SHALEV

Department of PsychiatryHadassah University [email protected]

HUI SHAO

Department of Ophthalmology and Visual SciencesUniversity of LouisvilleLouisville, KYUSA

NAND LAL SHARMA

Department of DermatologyVenereology & Leprosy Indira Gandhi Medical [email protected]

SUMEET K. SHARMA

The University of Texas/Houston Medical SchoolChildren’s Memorial Hermann HospitalHouston, [email protected]

YOGESH M. SHASTRI

Department of Medicine IZAFESJ. W. Goethe-University [email protected]

ROBERT S. SHELDON

Libin Cardiovascular Institute of AlbertaThe University of CalgaryCalgary, ABCanada

WATARU SHIMIZU

Division of Cardiology, Department of Internal MedicineNational Cardiovascular CenterSuita, [email protected]

OSAMU SHIMOKAWA

Kyusyu Medical Science Nagasaki LaboratoryNagasakiJapan

YOON S. SHIN

Children’s HospitalUniversity of [email protected]

TAKAHIRO SHINKAI

Department of PsychiatryUniversity of Occupational and Environmental [email protected]

HARUO SHINTAKU

Department of PediatricsOsaka City University Graduate School of [email protected]

MASAAKI SHIOHARA

Department of PediatricsShinshu University, School of [email protected]

ANUSHREE C. SHIRALI

Department of Internal MedicineSection of NephrologyYale University School of MedicineNew Haven, [email protected]

VORASUK SHOTELERSUK

Division of Medical Genetics and MetabolismDepartment of PediatricsChulalongkorn [email protected]

List of Contributors lxxvii

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WEINIAN SHOU

Department of Pediatrics, Biochemistry and MolecularBiologyIndiana University School of MedicineHerman B Wells Center for Pediatric ResearchIndianapolis, [email protected]

KENNETH R. SHROYER

Departments of Dermatology and PathologyUniversity of Colorado School of MedicineDenver, COUSA

ERIC SIBLEY

Division of Pediatric GastroenterologyStanford University School of MedicineStanford, [email protected]

REINER SIEBERT

Institute of Human GeneticsUniversity Hospital Schleswig-HolsteinCampus [email protected]

SÖREN V. SIEGMUND

Department of Medicine II (Gastroenterology, Hepatologyand Infectious Diseases)University Hospital of [email protected]

ROSWITHA SIENER

Department of UrologyUniversity of [email protected]

MATTHIAS SIEPE

Department of Cardiovascular SurgeryUniversity Medical Center [email protected]

CAROLINE SILVE

INSERMUniversity of [email protected]

GABRIELLA SILVESTRI

Department of NeuroscienceCatholic [email protected]

H. ANNE SIMMONDS

Purine Research UnitGuy’s HospitalKing’s [email protected]

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 [email protected]

JOHN SIMPSON

Department of General SurgeryUniversity [email protected]

ANCA SINDRILARU

Department of DermatologyUniversity of MuensterMuensterGermany

MANFRED V. SINGER

Department of Medicine II (Gastroenterology, Hepatologyand Infectious Diseases)University Hospital of [email protected]

BRAMAH N. SINGH

Division of CardiologyVeterans Affairs Greater Los Angeles Healthcare System andThe David Geffen School of Medicine at UCLALos Angeles, [email protected]

HARPREET SINGH

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

UPINDERPAL SINGH

Department of Physical Medicine and RehabilitationAll India Institute of Medical SciencesNew [email protected]

lxxviii List of Contributors

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SANDRA SIRRS

Vancouver Hospital and Health Sciences CentreVancouver, [email protected]

ERIK A. SISTERMANS

VU University Medical CentreAmsterdamThe [email protected]

CHRISTINE SKERKA

Department of Infection BiologyLeibniz Institute for Natural Products Research and [email protected]

MARC SLAWIK

Medical ClinicLudwig-Maximilians-UniversityMunichGermany

AUGUST H. M. SMELT

Department of General Internal MedicineLeiden University Medical CenterLeidenThe [email protected]

A. GORDON SMITH

Department of NeurologyUniversity of Utah School of MedicineSalt Lake City, [email protected]

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, [email protected]

LUBOMIR SOKOL

Division of Malignant HematologyDepartment of Interdisciplinary OncologyH. Lee Moffitt Cancer Center and Research InstituteUniversity of South FloridaTampa, [email protected]

GÖKSEL SOMAY

Department of NeurologyHaydarpaşa Numune Educational and Research [email protected]

WILLIAM J. SPEAKE

Department of General SurgeryUniversity HospitalNottinghamUK

JO SPENCER

Division of Immunology, Infection & InflammationImmunobiology DepartmentKings CollegeLondonUK

ANNE-DORTE SPERFELD

Department of NeurologyUniversity of [email protected]

ODED SPERLING

Department of Human Molecular Genetics and BiochemistryTel Aviv [email protected]

SONJA STÄNDER

Department of DermatologyUniversity Hospital of [email protected]

NICOLE STANKUS

Department of NephrologyUniversity of ChicagoChicago, [email protected]

ROLAND STAUD

University of FloridaGainesville, [email protected]

List of Contributors lxxix

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ANDREW C. STEER

Centre for International Child HealthDepartment of PediatricsUniversity of MelbourneMelbourne, [email protected]

IOANNIS STEFANIDIS

Department of Nephrology, Medical SchoolUniversity of [email protected]

JÜRGEN M. STEIN

Department of Medicine IZAFESJ. W. Goethe-University [email protected]

DANIELA STEINBERGER

BioscientiaCenter for Human [email protected]

ORTRUD K. STEINLEIN

Ludwig-Maximilians-University of Munich School ofMedicineInstitute of Human [email protected]

ULRICH STEPHANI

Clinics for Neuropediatrics of Kiel [email protected]

SUNCANICA LJUBIN STERNAK

Department of VirologyCollaborating Centre WHO for VirologyCroatian National Institute of Public [email protected]

GERALD STÖBER

Department of Psychiatry and PsychotherapyUniversity of [email protected]

EGGERT STOCKFLETH

Department of DermatologySkin Cancer Center CharitéUniversity Hospital of [email protected]

SYLVIA STÖCKLER-IPSIROGLU

Biochemical Genetics and National Neonatal ScreeningLaboratories Department of General PediatricsUniversity Children’s Hospital [email protected]

CLAUDE STOLL

Laboratoire de Génétique MédicaleFaculté de Mé[email protected]

GUIDO STOLL

Department of NeurologyUniversity of [email protected]

JAMES K. STOLLER

Department of Pulmonary and Critical Care MedicineSection of Respiratory TherapyCleveland Clinic Lerner College of MedicineCleveland, [email protected]

GISELA STOLTENBURG-DIDINGER

Institute of NeuropathologyCampus Charité[email protected]

MARVIN J. STONE

Baylor Sammons Cancer CenterBaylor University Medical CenterDallas, [email protected]

ALEXANDER STORCH

Department of NeurologyTechnical University of [email protected]

BJÖRN STORK

Department of Internal Medicine IUniversity of [email protected]

lxxx List of Contributors

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CONSTANTINE STRATAKIS

Program on Developmental Endocrinology & GeneticsNational Institute of Child Health and Human DevelopmentBethesda, [email protected]

MICHAEL STRAUB

Department of Urology and Pediatric UrologyUrolithiasis Research GroupUniversity of [email protected]

ERICH C. STRAUSS

Gladstone Institute of Virology and ImmunologyUniversity of CaliforniaSan Francisco, [email protected]

OLAF STRAUSS

Experimental OphthalmologyDepartment of OphthalmologyUniversity of [email protected]

EUGEN-MATTHIAS STREHLE

Neuromuscular GeneticsInternational Centre for LifeNewcastle upon [email protected]

ROBERT M. STRIETER

Department of MedicineUniversity of Virginia School of MedicineCharlottesville, [email protected]

MICHAEL STRUPP

Department of NeurologyLudwig-Maximilians-UniversityKlinikum Groß[email protected]

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, [email protected]

HOLGER SUDHOFF

Department of Otorhinolaryngology/Head and Neck SurgeryUniversity of [email protected]

PETER H. SUGDEN

NHLI Division, Faculty of MedicineImperial College LondonLondonUK

RICHARD J. SUGRUE

Division of Molecular and Cell BiologySchool of Biological SciencesNanyang Technological [email protected]

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 [email protected]

MANISH SUNEJA

Division of NephrologyDepartment of Internal MedicineUniversity of Iowa College of MedicineIowa City, [email protected]

TIINA SUOMINEN

NeurogeneticsUniversity of [email protected]

List of Contributors lxxxi

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KANYA SUPHAPEETIPORN

Division of Medical Genetics and MetabolismDepartment of PediatricsChulalongkorn UniversityBangkokThailand

SANKAR SURENDRAN

Internal MedicineThe University of Texas Medical BranchGalveston, [email protected]

CHITRA SURI

Westchester Community CollegeValhalla, [email protected]

MILLICENT SUTTON

Laboratory of Complement BiologyNew York Blood CenterNew York, NYUSA

KUNIHIKO SUZUKI

Neuroscience CenterUniversity of North Carolina School of MedicineChapel Hill, [email protected]

YOICHI SUZUKI

Department of Medical GeneticsTohoku University School of [email protected]

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 [email protected]

FILIPPO TAMANINI

Department of Cell Biology and GeneticsCenter for Biomedical GeneticsErasmus University Medical CenterRotterdamThe [email protected]

MOTOKO TANAKA

Department of NephrologyAkebono [email protected]

LAURA M. TANNER

Department of PediatricsTurku University [email protected]

AYALEW TEFFERI

Division of HematologyMayo Clinic College of MedicineRochester, [email protected].

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, [email protected]

JAIME TEJEDOR

Department of OphthalmologyHospital Ramón y [email protected]

CEVAHIR TEKCAN

Barbaros Mh. Başkan Sk. Özlem Sit.Koş[email protected]

lxxxii List of Contributors

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HUGO TEN CATE

Laboratory for Clinical Thrombosis and HemostasisDepartment of Internal MedicineMaastricht UniversityMaastrichtThe [email protected]

HARRIET S. TENENHOUSE

Department of Human GeneticsMontreal Children’s Hospital Research InstituteMcGill UniversityMontreal, [email protected]

HIROKI TERAGAWA

Department of Medicine and Molecular ScienceGraduate School of Biomedical SciencesHiroshima [email protected]

VLADIMIR TESAR

Department of NephrologyCharles UniversityPragueCzech [email protected]

ULRICH THALHEIMER

Department of Liver Transplantation and HepatobiliarySurgeryRoyal Free HospitalHampstead, LondonUK

KUMARASAMY THANGARAJ

Centre for Cellular and Molecular [email protected]

MANISH THAPAR

Division of Gastroenterology and HepatologyUniversity of MissouriColumbia, MOUSA

TANYA THIAGARAJAH

Learning Disability ServiceNHS LothianEdinburghUK

HAGEN THIEME

Department of OphthalmologyJohannes-Gutenberg-University [email protected]

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, [email protected]

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 [email protected]

VALERIA TIRANTI

Unit of Molecular NeurogeneticsPierfranco and Luisa Mariani Center for the Study ofChildren’s Mitochondrial DisordersIRCCS Foundation Neurological Institute“CBesta”[email protected]

JAY A. TISCHFIELD

Nelson Laboratory, Department of GeneticsRutgers UniversityPiscataway, NJUSA

CHEE-KEONG TOH

Department of Medical OncologyNational Cancer [email protected]

YARON TOMER

Division of EndocrinologyUniversity of CincinnatiCincinnati, OHUSA

RADE TOMIC

Department of MedicineAtlanta VA Medical CenterAtlanta, GAUSA

List of Contributors lxxxiii

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JOEL MICHELS TOPF

Chronic Kidney Disease ClinicsDetroit, [email protected]

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 [email protected]

MARY I. TOWNSLEY

Department of Physiology and the Center for Lung BiologyUniversity of South Alabama College of MedicineMobile, [email protected]

KLAUS V. TOYKA

Department of Neurology and Clinical Research Group forMS and NeuroimmunologyUniversity of [email protected]

MARIA GRAZIA TOZZI

Department of BiologyUniversity of PisaPisaItaly

MICHAEL TRAUNER

Division of Gastroenterology and HepatologyMedical University of [email protected]

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 [email protected]

CHRISTOS TRIANTOS

Department of Liver Transplantation and HepatobiliarySurgeryRoyal Free HospitalHampstead, LondonUK

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, [email protected]

FRANCESCO TROTTA

Section of RheumatologyDepartment of Clinical and Experimental MedicineUniversity of Ferrara Medical [email protected]

TERENCE K. TROW

Pulmonary Hypertension CenterYale University School of MedicineNew Haven, [email protected]

HAN-MOU TSAI

Division of HematologyMontefiore Medical Center and Albert Einstein College ofMedicineNew York, [email protected]

CARSTEN TSCHÖPE

Center for Cardiovascular ResearchCharité[email protected]

HAYRETTIN TUMANI

Department of NeurologyUniversity of [email protected]

lxxxiv List of Contributors

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BENJAMIN D. TYRRELL

Division of CardiologyWalter Mackenzie CenterUniversity of AlbertaEdmonton, ABCanada

BJARNE UDD

Department of Medical GeneticsVaasa Central HospitalUniversity of [email protected]

ANSELM UEBING

Adult Congenital Heart Disease UnitRoyal Brompton and Harefield NHS [email protected]

TAKESHI UEHARA

Department of Laboratory MedicineShinshu University School of MedicineMatsumotoJapan

SEMA UGURALP

Department of Pediatric SurgeryTurgut Ozal Medical CenterInonu [email protected]

JOHANNES UHL

Scil Proteins Production GmbHHalleGermany

JOUNI UITTO

Department of Dermatology and Cutaneous BiologyJefferson Medical CollagePhiladelphia, [email protected]

MANGAJJI R. UMAPATHI

Maternity and Child Welfare CenterKanjhawalaNew DelhiIndia

ALEXANDER UNRATH

Department of NeurologyUniversity of UlmUlmGermany

IRIS UNTERBERGER

Department of NeurologyMedical University of [email protected]

ROBERT J. UNWIN

Centre for Nephrology and Department of PhysiologyRoyal Free and University College Medical SchoolUniversity College [email protected]

ZSOLT URBAN

Departments of Pediatrics and GeneticsWashington University School of MedicineSt. Louis, [email protected]

INA L. URBATSCH

Department of Cell Biology and BiochemistryTexas Tech University Health Sciences CenterLubbock, [email protected]

JANET Y. URIU-ADAMS

Department of NutritionUniversity of California at DavisDavis, [email protected]

HOPE E. URONIS

Medicine, Pharmacology and Cancer BiologyDuke UniversityDurham, [email protected]

JOCHEN UTIKAL

Department of Dermatalogy, Venereology and AllergologyUniversity Medical Centre MannheimRuprechts-Karls-University of [email protected]

ANDREA L. UTZ

Neuroendocrine UnitMassachusetts General HospitalBoston, [email protected]

GABRIEL I. UWAIFO

Division of EndocrinologyUniversity of Mississippi Medical CenterJackson, MSUSA

List of Contributors lxxxv

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MARIO VACCARO

Institute of DermatologyPoliclinico [email protected]

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 [email protected]

GERT VAN ASSCHE

Division of GastroenterologyUniversity Hospital [email protected]

BRUNO VANDE BERG

Departments of Nephrology and RadiologyCliniques Universitaires [email protected]

GEORGES VAN DEN BERGHE

University of [email protected]

GER J. VAN DER VUSSE

Cardiovascular Research InstituteMaastricht UniversityMaastrichtThe [email protected]

HANNEKE M. VAN DER STRAATEN

Department of HaematologyUniversity Medical Center UtrechtUtrechtThe [email protected]

WIM VAN HUL

Department of Medical GeneticsUniversity and University Hospital of [email protected]

PETER VON DEN DRIESCH

Center for Skin DiseasesDepartment of Dermatology and AllergologyStuttgart [email protected]

CARLA VAN DER KALLEN

Laboratory of Metabolism and Vascular MedicineUniversity of MaastrichtMaastrichtThe [email protected]

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 [email protected]

TOIN H. VAN KUPPEVELT

Department of Matrix BiochemistryNijmegen Centre for Molecular Life SciencesNijmegenThe [email protected]

GEERT VAN LOO

Department of Molecular BiologyGhent University, ZwijnaardeGhentBelgium

BARBARA C. VAN MUNSTER

Department of Clinical Epidemiology and BiostatisticsAcademic Medical CenterUniversity of AmsterdamAmsterdamThe [email protected]

MAURICE A. M. VAN STEENSEL

Department of DermatologyUniversity Hospital MaastrichtMaastrichtThe [email protected]

FILIP VANHOENACKER

Department of Medical GeneticsUniversity of AntwerpAntwerpBelgium

* deceased

lxxxvi List of Contributors

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SERGIO L. VARGAS

University of Chile School of [email protected]

MANISH KUMAR VARSHNEY

Department of OrthopedicsAll India Institute of Medical SciencesNew DelhiIndia

NOSRATOLA D. VAZIRI

Division of Nephrology and HypertensionUCI Medical CenterIrvine, [email protected]

LEO F. VERDONCK

Department of HaematologyUniversity Medical Center UtrechtUtrechtThe [email protected]

NATHALIE VERGNOLLE

Department of Pharmacology and TherapeuticsThe University of CalgaryCalgary, [email protected]

ESSI VIDING

Department of PsychologyUniversity [email protected]

MIIKKA VIKKULA

Laboratory of Human Molecular GeneticsChristian de Duve Institute of Cellular PathologyUniversité Catholique de [email protected]

ANNA VILLA

CNR-Istituto Tecnologie [email protected]

ANGELA VINCENT

Weatherall Institute of Molecular MedicineJohn Radcliffe [email protected]

MARCO VINCETI

Department of Public Health SciencesUniversity of Modena and Reggio EmiliaModenaItaly

JOHN VISSING

Neuromuscular Clinic and Research UnitDepartment of NeurologyNational University [email protected]

NICHOLAS J. VOGELZANG

Nevada Cancer InstituteLas Vegas, NYUSA

RAINER VOISARD

Department of Internal Medicine II – CardiologyUniversity of [email protected]

LUCA VOLTERRANI

Department of RadiologyUniversity of [email protected]

STEPHAN VOM DAHL

Department of Internal MedicineSt. Franziskus-Hospital, Academic Teaching HospitalUniversity of [email protected]

CHRISTINE A.F. VON ARNIM

Department of NeurologyUlm [email protected]

YSKERT VON KODOLITSCH

Heartcenter, CardiologyUniversity Hospital [email protected]

CAROLINA VON REITZENSTEIN

Mannheim University of Applied ScienceInstitut für Instrumentelle Analytik und [email protected]

List of Contributors lxxxvii

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KURT VON FIGURA

Department of BiochemistryGeorg-August-University [email protected]

GERD E. VON UNRUH

Department of Internal MedicineUniversity of [email protected]

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 [email protected]

MARTIN WABITSCH

Division of Pediatric Endocrinology and DiabetesUniversity of [email protected]

HANS WADENVIK

Hematology SectionDepartment of Internal MedicineSahlgrenska University [email protected]

NITIN WADHANI

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

ANTON J. M. WAGENMAKERS

School of Sport and Exercise SciencesUniversity of [email protected]

CARSTEN A. WAGNER

Institute of Physiology and Zurich Center for IntegrativeHuman PhysiologyUniversity of [email protected]

JEFFREY C. WAGNER

Department of NeurologyUniversity of Utah School of MedicineSalt Lake City, [email protected]

SIEGFRIED WALDEGGER

University Children’s HospitalPhillips UniversityMarburgGermanysiegfried.waldegger@mailer.uni-marburg.de

MARGARET R. WALLACE

Department of Molecular Genetics and MicrobiologyUniversity of FloridaGainesville, [email protected]

CARINA WALLGREN-PETTERSSON

Departments of Medical GeneticsUniversity of Helsinki and Folkhä[email protected]

GERD WALZ

Department of NephrologyUniversity Medical Center [email protected]

RONALD J. A. WANDERS

Laboratory of Genetic Metabolic DisordersAcademic Medical CenterUniversity of AmsterdamAmsterdamThe [email protected]

DONG WANG

Colleen Giblin Laboratories for Pediatric Neurology ResearchDepartment of NeurologyColumbia UniversityNew York, NYUSA

PING WANG

The Feinstein Institute for Medical ResearchManhasset, [email protected]

XINKANG WANG

Wyeth ResearchDiscovery Translational MedicineCollegeville, PAUSA

lxxxviii List of Contributors

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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, [email protected]

HIROSHI WATANABE

Division of Clinical PharmacologyDepartments of Medicine and PharmacologyVanderbilt University School of MedicineNashville, [email protected]

TIMOTHY WATSON

Hemostasis, Thrombosis and Vascular Biology UnitUniversity Department of Medicine, City [email protected]

CHRISTOPH K. WEBER

Department of GastroenterologyClinic [email protected]

RAINER WEBER

Department of OtorhinolaryngologyKlinikum [email protected]

STEFANIE WEBER

Laboratory for Molecular GeneticsDepartment for Pediatric NephrologyChildren’s University [email protected]

YVONNE G. WEBER

Department of Neurology of the University of UlmZentrum für Klinische [email protected]

PETRA WECKERLE

University Eye Hospital [email protected]

JEANNE Y. WEI

University of Arkansas for Medical Sciences, GRECC andCAVHSLittle Rock, [email protected]

JULIA WEIHRAUCH

Department of DermatologyUniversity CologneCologneGermany

TRACEY WEILER

Division of RheumatologyCincinnati Children’s Hospital Medical CentreCincinnati, [email protected]

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, [email protected]

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, [email protected]

MICHAEL WELLER

Department of NeurologyUniversity Hospital [email protected]

List of Contributors lxxxix

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KATRIN WELT

Department of Dermatology and AllergologyUniversity of UlmUlmGermany

SHARON L. WENGER

Department of PathologyWest Virginia UniversityMorgantown, [email protected]

MATTHIAS WENNING

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

SEBASTIAN WESSELBORG

Department of Internal Medicine IUniversity of [email protected]

ANDY WESSELS

Department of Cell Biology and AnatomyCardiovascular Developmental Biology CenterMedical University of South CarolinaCharleston, [email protected]

RAINER WESSELY

Heart [email protected]

DIRK WESTERMANN

Center for Cardiovascular ResearchCharité[email protected]

MATTHIAS WETTSTEIN

Internal Medicine IPassau [email protected]

DAVID C. WHITCOMB

Division of Gastroenterology,Hepatology and NutritionUniversity of PittsburghPittsburgh, [email protected]

ROBERT P. WHITEHEAD

Division of Hematology/OncologyUniversity of Texas Medical BranchGalveston, [email protected]

JAMES G. WHITE

Laboratory Medicine and PathologyUniversity of MinnesotaMinneapolis, [email protected]

MICHAEL P. WHYTE

Center for Metabolic Bone Disease and Molecular ResearchShriners Hospitals for Children and Department of MedicineWashington University School of MedicineSt. Louis, [email protected]

DAN WICHTERLE

2nd Department of Internal Medicine1st Medical SchoolCharles UniversityPragueCzech [email protected]

RALF WIENECKE

Department of DermatologyTuberous Sclerosis CenterLudwig-Maximilian-UniversityMunichGermanyralf.wienecke@lrz.uni-muenchen.de

JOLANTA WIERZBA

Department of Pediatrics, Hematology, Oncology andEndocrinologyMedical University of [email protected].

HOLGER S. WILLENBERG

Department of Endocrinology, Diabetes and RheumatologyUniversity [email protected]

RUTH WILLIAMS

Department of Pediatric NeurologyThe Evelina Children’s [email protected]

xc List of Contributors

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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 [email protected]

FENELLA WOJNAROWSKA

Department of DermatologyThe Churchill [email protected]

BARRY WOLF

Department of PediatricsUniversity of Connecticut School of MedicineHartford, [email protected]

GUNTER WOLF

Department of Internal Medicine IIIUniversity Hospital [email protected]

HANS WOLF

Institute of Medical MicrobiologyUniversity of [email protected]

NICOLE I. WOLF

Department of Pediatric NeurologyUniversity of Heidelberg Medical CentreHeidelbergGermany

RONNI WOLF

The Dermatology UnitKaplan Medical [email protected]

JOSEPH I. WOLFSDORF

Department of EndocrinologyChildren’s Hospital BostonBoston, [email protected]

JOHN WOLSTENHOLME

Institute of Human GeneticsUniversity of NewcastleNewcastle upon [email protected]

ANDREW L. WONG

Department of SurgeryThe University of CalgaryCalgary, ABCanada

DEREK A. WONG

Childrens Hospital Los AngelesLos Angeles, [email protected]

TOM Y. WOO

Department of MedicineThe Univesity of CalgaryCalgary, ABCanada

KATIE A. WOODS

Pediatric Endocrinology SectionDepartment of EndocrinologySt. Bartholomew’s HospitalLondonUK

TRACY J. WRIGHT

Institute of Medical GeneticsUniversity of ZurichSchwerzenbachSwitzerland

KLAUS WROGEMANN

Department of Biochemistry and Medical GeneticsUniversity of ManitobaWinnipeg, [email protected]

RONGQIAN WU

Department of SurgeryNorth Shore University Hospital and Long Island JewishMedical CenterManhasset, [email protected]

List of Contributors xci

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MICHAEL T. WUNDERLICH

Department of NeurologyOtto-von-Guericke-University [email protected]

WIM WUYTS

Department of Medical GeneticsUniversity of AntwerpAntwerpBelgium

HUI XU

Institute of Endemic DiseasesNorman Bethune College of Medical SciencesJilin UniversityChangchunP.R. [email protected]

DHIRAJ YADAV

Division of GastroenterologyHepatology and NutritionUniversity of PittsburghPittsburgh, [email protected]

HIROYUKI YAMAGISHI

Department of PediatricsKeio University School of [email protected]

TAKASHI YAMAKI

Department of Plastic and Reconstructive SurgeryTokyo Women’s Medical [email protected]

XIMING J. YANG

Department of PathologyNorthwestern UniversityChicago, ILUSA

ZHIRONG YAO

Medical Mycology LaboratoryXinhua Hospital, School of MedicineShanghai Jiaotong [email protected]

RABAH BEN YAOU

[email protected]

KARINA YAZDANBAKHSH

Laboratory of Complement BiologyNew York Blood CenterNew York, [email protected]

HUI-JUN YE

Department of CardiologySecond Xiangya HospitalCentral South UniversityChangsha, HunanPeople’s Republic of China

ORHAN YILDIZ

Department of Infectious DiseasesFaculty of MedicineErciyes [email protected]

KATSUHIKO YOSHIZAWA

Drug Safety Research LaboratoriesAstellas Pharma [email protected]

JASON X.-J. YUAN

Division of Pulmonary and Critical Care MedicineDepartment of MedicineUniversity of California at San DiegoLa Jolla, [email protected]

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, [email protected]

EJAZ ZAIDI

Elipsis BiotherapeuticsToronto, [email protected]

xcii List of Contributors

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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, [email protected]

FREDERICO ZARA

Muscular and Neurodegenerative Disease UnitUniversity of GenoaGenoaItaly

CHRISTOPHER K. ZARINS

Division of SurgeryStanford University School of MedicineStanford, [email protected]

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 [email protected]

CHRISTINA ZEITZ

Institut de la VisionLaboratoire de Physiopathologie Cellulaire et Moléculaire dela Rétine-INSERMUniversité Pierre et Marie [email protected]

DARRYL C. ZELDIN

Laboratory of Respiratory BiologyNIH/NIEHSResearch Triangle Park, [email protected]

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 [email protected]

INGA ZERR

Department of NeurologyNational Reference Center for TSE SurveillanceGeorg-August [email protected]

KLAUS ZERRES

Institute of Human GeneticsAachen University of [email protected]

MASSIMO ZEVIANI

Unit of Molecular NeurogeneticsNational Neurological Institute “C. Besta”[email protected]

SHUI-PING ZHAO

Department of Cardiology, Second Xiangya HospitalCentral South UniversityChangsha, HunanPeople’s Republic of [email protected]

YAOFENG ZHAO

Karolinska Institute, Department of Laboratory MedicineKarolinska University Hospital [email protected]

YUN ZHAO

Laboratory of Respiratory BiologyNIH/NIEHSResearch Triangle Park, NCUSA

XIAOYAN ZHOU

Ochsner Clinic FoundationNew Orleans, [email protected]

STEPHAN ZIERZ

Department of NeurologyUniversity of Halle-WittenbergHalleGermany

List of Contributors xciii

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CHRISTIAN ZIETZ

Department of PathologyTechnical University of [email protected]

DIANA J. ZIMMERMANN

Department of UrologyUniversity of BonnBonnGermany

MARC ZIMMERMANN

Cardiovascular DepartmentHôpital de La [email protected]

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 [email protected]

CHRISTOS C. ZOUBOULIS

Department of Dermatology, Venerology, Allergology andImmunologyDessau Medical [email protected]

GEORGE S. ZUBENKO

Department of PsychiatrySchool of MedicineUniversity of PittsburghPittsburgh, [email protected]

ORSETTA ZUFFARDI

Genetica MedicaUniversità di [email protected]

ITSHAK ZUSMAN

Koret School of Veterinary Medicine, Food andEnvironmental Quality SciencesHebrew University of [email protected]

xciv List of Contributors