Encyclopedia of Molecular Mechanisms of Disease FLORIAN LANG (Ed.)

Encyclopedia of Molecular Mechanisms of Disease

With 646 Figures* and 213 Tables

*For color figures please see our Electronic Reference on www.springerlink.com Editor: Prof. Dr. med. Florian Lang Institute of Physiology University of Tuebingen Tuebingen, Germany [email protected]

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

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

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Printed on acid-free paper SPIN: 11 73 68 75 2109 — 543210 Preface

Pathophysiology describes mechanisms of disease and is thus at the interface between basic research and clinical medicine. The aim of this comprehensive encyclopedia is to supply the reader with concise information on molecular pathophysiology, a research area of breathtaking gain of knowledge. We trust that the book shall be a valuable 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 structured to allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by key references.

The editor is indebted to the section editors for their superb support in selecting the appropriate entries and choosing the leading experts in the respective areas of research. The editor further wishes to express his appreciation to the many 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 of my secretaries Tanya Loch and Jasmin Bühringer and by several staff members of the Springer Publishing house including Dr. Michaela Bilic, Jana Simniok, Hiltrud Wilbertz, Dr. Rolf Lange, and Dr. Thomas Mager.

FLORIAN LANG, March 2008 Editor-in-Chief

Prof. Dr. med. Florian Lang Institute of Physiology University of Tuebingen Tuebingen, Germany [email protected] Field Editors

CHRISTIAN BAUER GERD HASENFUß Université Claude Bernard, Department of Cardiology and Lyon, France Pneumology, [email protected] University of Goettingen, (Section: Blood Disorders) Goettingen, Germany [email protected] ALESSANDRA BAUMER (Section: Cardiovascular System) Institute of Medical Genetics, University of Zurich, DIETER HÄUSSINGER Zurich, Switzerland Clinic for Gastroenterology, Hepatology [email protected] and Infectiology, (Section: Chromosomal Disorder) Heinrich-Heine-University, Duesseldorf, Germany MICHAEL BECKER [email protected] The University of Chicago, (Sections: Gastroenterology, Hepatology) Chicago, IL, USA [email protected] (Section: Purine Metabolism) FRIEDHELM HILDEBRANDT University of Michigan Health System, HANS-KONRAD BIESALSKI Ann Arbor, MI, USA Department of Biological Chemistry and Nutrition, [email protected] University Hohenheim, (Section: Renal and Combined Disease) Stuttgart, Germany [email protected] KEITH A. HRUSKA (Section: Vitamins & Trace Elements) Barnes-Jewish Hospital, Washington University School of STEFAN BORNSTEIN Medicine, Medical Clinic III, St. Louis, MO, USA University Hospital Dresden, [email protected] Dresden, Germany (Section: Bone and Mineral Disease) [email protected] (Section: Endocrinology) GARY HUNNINGHAKE School of Medicine, KENNETH L. BRIGHAM University of Iowa, Department of Medicine Iowa City, IA, USA Emory University School of Medicine, [email protected] Atlanta, GA, USA (Section: Respiratory Disease) [email protected] (Section: Respiratory Disease) MARTIN KONRAD Department of Pediatrics, WOLFGANG DIETMAIER Institute of Pathology, University of Muenster, University of Regensburg, Muenster, Germany Regensburg, Germany [email protected] [email protected] (Section: Bone and Mineral Disease) (Section: Tumor Biology) KARL KUNZELMANN TILMAN B. DRÜKE Department of Physiology, Hopital Necker, University of Regensburg, , France Regensburg, Germany [email protected] [email protected] (Section: Bone and Mineral Disease) (Section: Respiratory Disease) x Field Editors

FLORIAN LANG DIETER METZE Institute of Physiology, Department of Dermatology, University of Tuebingen, University Hospital of Muenster, Tuebingen, Germany Muenster, Germany [email protected] [email protected] (Conceptual Editor for Several Sections) (Section: Skin)

KARL S. LANG LESTER PACKER Ontario Cancer Institute, Department of Molecular Pharmacology and University Toronto, Toxicology, Toronto, ON, Canada School of Pharmacy, [email protected] University of Southern California, (Section: Immunology) Los Angeles, CA, USA [email protected] UNDINE E. LANG (Section: Vitamins & Trace Elements) Department of Psychiatry and Psychotherapy, Charité University Medicine Berlin, MARKUS PFISTER Berlin, Germany Department of Otolaryngology and Head and [email protected] Neck Surgery, (Section: Psychiatry) University of Tuebingen, Tuebingen, Germany FRANK LEHMANN-HORN [email protected] Applied Physiology, (Section: ENT) Ulm University, Ulm, Germany MIKE RECHER [email protected] Clinic for Immunology, Department of Internal (Section: Neurology) Medicine, University Hospital Zurich, HOLGER LERCHE Zurich, Switzerland Applied Physiology, [email protected] Ulm University, (Section: Immunology) Ulm, Germany [email protected] (Section: Neurology) KONRAD SANDHOFF LIMES Institute Program Unit, Membrane Biology and Lipid DEREK LEROITH Biochemistry Unit, Division of Endocrinology, Diabetes and Bone Disease, University of Bonn, Mount Sinai School of Medicine, Bonn, Germany New York, NY, USA [email protected] [email protected] (Section: Endocrinology) (Section: Lipid Storage Diseases)

THOMAS LUGER ALBERT SCHINZEL Department of Dermatology, Institute of Medical Genetics, University Hospital of Muenster, University of Zurich, Muenster, Germany Zurich, Switzerland [email protected] [email protected] (Section: Skin) (Section: Chromosomal Disorder)

REUBEN MATALON H. ANNE SIMMONDS Department of Pediatrics, Purine Research Unit, University of Texas Medical Branch (UTMB), Guy's Hospital, Galveston, TX, USA London, UK [email protected] [email protected] (Section: Amino Acid Metabolism) (Section: Purine Metabolism) Field Editors xi

OLAF STRAUß HANS-PETER ZENNER Experimental Ophthalmology, Department of Otolaryngology and Head and Department of Ophthalmology, Neck Surgery, University Regensburg, University of Tuebingen, Regensburg, Germany Tuebingen, Germany [email protected] [email protected] (Section: Ophthalmology) (Section: ENT)

HUGO TEN CATE EBERHARDT ZRENNER Department of Internal Medicine and of Biochemistry, University Eye Hospital, Maastricht University, Tuebingen, Germany Maastricht, The Netherlands [email protected] [email protected] (Section: Ophthalmology) (Section: Blood Disorders)

KURT ULLRICH Children's Hospital, University Clinics Eppendorf, Hamburg, Germany [email protected] (Section: Amino Acid Metabolism) List of Contributors

DIETRICH ABECK SUHAIL ALAM Department of Dermatology and Allergology Department of Environmental and Biomolecular Systems Technische Universitaet Munich OGI School of Science and Engineering Munich Oregon Health and Science University Germany Beaverton, OR [email protected] USA

OLADAPO ADEWUYA JESSY J. ALEXANDER Department of Pathology Section of Nephrology University of Texas Medical Branch University of Chicago Houston, TX Chicago, IL USA USA [email protected] GUIDO ADLER Department of Internal Medicine I GIDON ALMOGY Ulm University Department of Surgery Ulm Hadassah University Hospital Germany Jerusalem [email protected] Israel

ALI R. AFZAL NURSEL ALPAN Department of Cardiological Sciences Department of Cardiology, Ministry of Health St. George’s Hospital Medical School Ankara Diskapi Children’s Diseases Training and Research London Hospital UK Ankara [email protected] Turkey

VIMLA S. AGGARWAL CRISTINA AMAT DI SAN FILIPPO Department of Molecular Genetics Medical Genetics/Pediatrics Albert Einstein College of Medicine University of Utah New York, NY Salt Lake City, UT USA USA [email protected] PUSHPA AGRAWAL Institute of Microbial Technology RICHARD F. AMBINDER Chandigarh Viral Oncology Program, Sidney Kimmel Cancer Center India Johns Hopkins University [email protected] Baltimore, MD USA WALID AHMAR [email protected] MonashHeart Southern Health and Department of Medicine CHRISTINA M. AMBROS-RUDOLPH Monash University Department of Dermatology Melbourne, VIC Medical University of Graz Australia Graz [email protected] Austria [email protected] MINRONG AI Department of Genetics and Center for Human Genetics DETLEV AMEIS Case School of Medicine Department of Internal Medicine II Cleveland, OH Evangelic Hospital Lutherhaus USA Essen [email protected] Germany [email protected] NAIDU K. AKHILENDER Department of Biochemistry and Nutrition KATHERINE K. ANAGNOSTOPOULOU Central Food Technological Research Institute First Cardiology Department Mysore Onassis Cardiac Surgery Center India Athens [email protected] Greece xiv List of Contributors

YUMIKO ANDO JOSEP M. ARGILÉS Department of Diagnostic and Interventional Radiology Departament de Bioquímica i Biologia Oita University Faculty of Medicine Molecular Universitat de Barcelona Oita Barcelona Spain [email protected]

VICENTE ANDRÉS Vascular Biology Unit GEMA ARICETA Instituto de Biomedicina de Valencia (IBV-CSIC) Division of Pediatric Kidney Diseases Spanish Council for Scientific Research Hospital de Cruces Valencia Vizcaya Spain Spain [email protected]

JELENA S. ARNOLD BRAGE STORSTEIN ANDRESEN Department of Molecular Genetics Institute of Human Genetics and Research Unit for Molecular Albert Einstein College of Medicine Medicine New York, NY Aarhus University USA Aarhus Denmark FRIEDRICH ASMUS [email protected] Department of Neurodegnerative Diseases Hertie-Institute for Clinical Brain Research CORRADO ANGELINI Center of Neurology Department of Neurosciences Tuebingen University of Padova Germany Padova [email protected] Italy [email protected] JOHN R. ASPLIN Department of Medicine, Section Nephrology CHARLES ANTZELEVITCH University of Chicago Experimental Cardiology Chicago, IL Masonic Medical Research Laboratory USA Utica, NY [email protected] USA [email protected] MOHAMED G. ATTA Department of Nephrology AMELIA ARÁNEGA Johns Hopkins University School of Medicine Department of Experimental Biology Baltimore, MD University of Jaen USA Jaen [email protected] Spain [email protected] MASSIMO ATTANASIO Department of Pediatrics SAMUEL J. ARBES University of Michigan Laboratory of Respiratory Biology, NIH/NIEHS Ann Arbor, MI Research Triangle Park, NC USA USA [email protected]

MONICA ARENAS MARINA AUNAPUU Purine Research Laboratory Department of Anatomy Guy’s Hospital University of Tartu London Tartu UK Estonia [email protected] [email protected]

ANDRES AREND INGO B. AUTENRIETH Department of Anatomy Institute for Medical Microbiology and Hygiene University of Tartu University of Tuebingen Tartu Tuebingen Estonia Germany [email protected] [email protected] List of Contributors xv

MAURIZIO AVERNA JONATHAN BAETS Department of Clinical Medicine and Emerging Diseases Neurogenetics Group University of Palermo VIB Department of Molecular Genetics Palermo University of Antwerp Italy Antwerp Belgium [email protected] MA.ROSA AVILA Comprehensive Epilepsy Program, Epilepsy Genetics/ MATHIAS BÄHR Genomics Laboratories and Epilepsy Center of Excellence Department of Neurology UCLA School of Medicine and VA GLAHS National Reference Center for TSE Surveillance Los Angeles, CA Georg-August University USA Goettingen Germany JUAN CARLOS AYUS [email protected] Renal Consultants of Houston Houston, TX MEI BAI USA Division of Endocrinology, Diabetes and Hypertension Brigham and Women’s Hospital Boston, MA GOHAR AZHAR USA University of Arkansas for Medical Sciences [email protected] GRECC and CAVHS Little Rock, AR DAMIAN MILES BAILEY USA Neurovascular Research Laboratory [email protected] Faculty of Health, Science and Sport University of Glamorgan SHAH AZMOON Pontypridd Division of Cardiology UK Veterans Affairs Greater Los Angeles Healthcare System and [email protected] The David Geffen School of Medicine at UCLA Los Angeles, CA ALFONSO BALDI USA Department of Biochemistry, Section of Pathology Second University of Naples Naples FERNANDO AZPIROZ Italy Digestive System Research Unit [email protected] Hospital General Vall d’Hebron Barcelona NICOLA BALDINI Spain Laboratorio di Fisiopatologia degli Impianti Ortopedici [email protected] Istituto Ortopedico Rizzoli Bologna ANGELO AZZI Italy Vascular Biology Laboratory JM USDA – HNRCA Tufts University Boston WENDY BALEMANS Boston, MS Department of Medical Genetics USA University and University Hospital of Antwerp [email protected] Antwerp Belgium [email protected] ULRIKE BACHER Department of Stem Cell Transplantation MANFRED BALLMANN University of Hamburg Department of Pediatric Pneumology and Neonatology Hamburg Medical School Hannover Germany Hannover [email protected] Germany [email protected] RAFFAELE BADOLATO Clinica Pediatrica MANISHA BALWANI Universita’ di Brescia Department of Genetics and Genomic Sciences Brescia Mount Sinai School of Medicine of New York University Italy New York, NY [email protected] USA xvi List of Contributors

ANNEMIEKE M. BAMS-MENGERINK ALESSANDRA BAUMER Department of Pediatrics Institute of Medical Genetics Emma Children’s Hospital University of Zurich Academic Medical Center Scherzenbach Amsterdam Switzerland The Netherlands [email protected] [email protected]

IRIS BARTELS JEROEN J. BAX Institute of Human Genetics Department of Cardiology University Goettingen Leiden University Medical Center Goettingen Leiden Germany The Netherlands [email protected] [email protected]

ANDREAS BARTHEL JOHANNES BAYER Endokrinologikum Ruhr Department of Dermatology Bochum University of Muenster Germany Muenster Germany DEBORAH BARTHOLDI Institute of Medical Genetics University of Zurich NIKOLAOS E. BECHRAKIS Zurich Department of Ophthalmology Switzerland Medical University of Innsbruck [email protected] Innsbruck Austria OLIVER BARTSCH [email protected] Institute of Clinical Genetics Dresden University of Technology Dresden MICHAEL BECK Germany Children’s Hospital [email protected] University of Mainz Mainz PETER BÄRTSCH Germany Department of Internal Medicine VII [email protected] Division of Sports Medicine Medical University Clinic Heidelberg HEINZ BECK Germany Laboratory of Experimental Epileptology [email protected] and Cognition Research Department of Epileptology Life and Brain Center MURAT BAS Bonn HNO Germany Technische Universitaet [email protected] Munich Germany

MICHAEL A. BECKER DANIEL BATLLE Department of Medicine Division of Nephrology and Hypertension University of Chicago Feinberg School of Medicine Pritzker School of Medicine Northwestern University Chicago, IL Chicago, IL USA USA [email protected] [email protected]

AGATINO BATTAGLIA ALAN H. BEGGS The Stella Maris Clinical Genetics Division and Program in Genomics Research Institute for Child and Adolescent Neurology Children’s Hospital and Psychiatry Harvard Medical School Calambrone Boston, MA Italy USA [email protected] [email protected] List of Contributors xvii

FRANK BEIER ROSSANA BERARDI CIHR Group in Skeletal Development and Remodeling Clinica di Oncologia Medica Department of Physiology and Pharmacology Università Politecnica delle Marche University of Western Ontario Ospedali Riuniti Umberto I – GM Lancisi – G Salesi di London, ON Ancona Canada Ancona [email protected] Italy

STEFAN BEISSERT JO H. M. BERDEN Department of Dermatology Nephrology Research Laboratory University of Muenster Nijmegen Centre for Molecular Life Sciences Muenster Division of Nephrology Germany Radboud University Nijmegen Medical Centre [email protected] Nijmegen The Netherlands [email protected] RAFFI BEKEREDJIAN Department of Cardiology University of Heidelberg WOLFGANG BERGER Heidelberg Division of Medical Molecular Genetics and Gene Germany Diagnostics [email protected] Institute of Medical Genetics University of Zurich Schwerzenbach HENDRICA BELGE Switzerland Division of Nephrology [email protected] UCL Medical School Brussels Belgium MARGHERITA BERGOMI Department of Public Health Sciences University of Modena and Reggio Emilia JOHN W. BELMONT Modena Department of Molecular and Human Genetics Italy Baylor College of Medicine [email protected] Houston, TX USA [email protected] SAMUEL F. BERKOVIC Epilepsy Research Centre Department of Medicine JOHN A. BELPERIO University of Melbourne Department of Internal Medicine West Heidelberg, VIC The David Geffen School of Medicine at UCLA Australia Los Angeles, CA USA MAURO BERNARDI Dipartimento di Medicina Interna, Cardioangiologia, MICHAEL BENATAR Epatologia Department of Neurology Alma Mater Studiorum Università di Bologna Emory University School of Medicine Bologna Atlanta, GA Italy USA [email protected] [email protected]

MARK BERNEBURG HERZL BEN-HUR Department of Dermatology Laboratory of Experimental Medicine Eberhard Karls University Rehovot Tuebingen Israel Germany [email protected] [email protected]

ANGELA BENTIVEGNA FELIX BEUSCHLEIN Division of Medical Genetics Medical Clinic San Paolo School of Medicine Ludwig-Maximilians-University University of Milan Munich Milan Germany Italy [email protected] xviii List of Contributors

RUDI BEYAERT KAILASH P. B HATIA Department of Molecular Biology Sobell Department of Motor Neuroscience Ghent University, Zwijnaarde and Movement Disorders Ghent Institute of Neurology Belgium London [email protected] UK [email protected]

KATRIN BEYER Department of Pathology CHRISTIAN G. BIEN Hospital Universitari Germans Trias i Pujol Department of Epileptology Barcelona University of Bonn Spain Bonn [email protected] Germany [email protected] FRIEDHELM BEYERSDORF Department of Cardiovascular Surgery MARTINA BIENOVA University Medical Center Freiburg Department of Dermatovenerology Freiburg Palacky University and University Hospital Germany Olomouc Czech Republic ROBERT J. BEYNON [email protected] Department of Veterinary Preclinical Sciences University of Liverpool HANS K. BIESALSKI Liverpool Department of Biological Chemistry and Nutrition UK University Hohenheim [email protected] Stuttgart Germany KONRAD BEYREUTHER [email protected] ZMBH University of Heidelberg BEVERLY M. K. BILLER Heidelberg Neuroendocrine Unit Germany Massachusetts General Hospital [email protected] Boston, MA USA MICHALA BEZDEKOVA [email protected] Department of Pathology and Laboratory of Molecular Pathology Palacky University MARCELO GUSTAVO BINKER Olomouc CBRHC Institute Czech Republic Buenos Aires Argentina

RAVI BHARGAVA Department of Radiology RIFAT BIRCAN Stollery Children’s Hospital Department of Medical Biology University of Marmara University Medical School , AB Istanbul Canada Turkey [email protected] MICHELE BISCEGLIA JAVEED I. BHAT Department of Pathology Department of Pediatrics IRCCS “Casa Sollievo della Sofferenza” Hospital Shere-Kashmir Institute of Medical Sciences (SKIMS) San Giovanni Rotondo Srinagar, Kashmir Italy India [email protected]

MUSHTAQ A. BHAT STEPHAN C. BISCHOFF Department of Pediatrics Nutritional Medicine and Prevention Shere-Kashmir Institute of Medical Sciences (SKIMS) University of Hohenheim Srinagar, Kashmir Stuttgart India Germany [email protected] [email protected] List of Contributors xix

ROLAND BITSCH JOHANNES G. BODE Institute for Nutrition Department of Gastroenterology, Hepatology and Friedrich-Schiller-University Jena Infectiology Jena University-Hospital Germany Heinrich-Heine University Duesseldorf [email protected] Duesseldorf Germany [email protected] JERRY G. BLAIVAS Department of Urology Suny Downstate Medical School CORNELIUS F. BOERKOEL New York, NY Centre for Molecular Medicine and Therapeutics, Child and USA Family Research Institute [email protected] Department of Medical Genetics University of British Columbia NENAD BLAU Vancouver, BC Division of Clinical Chemistry and Biochemistry Canada University Children’s Hospital [email protected] Zurich Switzerland [email protected] MARKUS BÖHM Department of Dermatology University Hospital of Muenster ANTHONY J. BLEYER Muenster Section of Nephrology Germany Wake Forest University School of Medicine [email protected] Winston-Salem, NC USA [email protected] REGINA BÖKENKAMP Department of Anatomy and Embryology Leiden University Medical Center NIKOLAUS BLIN Department of Molecular Pathology Leiden University Hospital of Tuebingen The Netherlands Tuebingen [email protected] Germany

JACKY BONAVENTURE GERARD C. BLOBE Institut Curie Medicine, Pharmacology and Cancer Biology Centre Universitaire Paris Sud Duke University Orsay Durham, NC France USA [email protected] [email protected]

BRIGITTA BONDY ANNA BLONSKA Section Psychiatric Genetics and Neurochemistry Department of Molecular Genetics Psychiatric Hospital of Munich University Albert Einstein College of Medicine Munich New York, NY Germany USA [email protected]

HUBERT E. BLUM Department of Medicine II HERBERT L. BONKOVSKY University Hospital Research Cannon Research Center Freiburg Carolinas Medical Center Germany Charlotte, NC [email protected] USA [email protected]

OLAF A. BODAMER Biochemical Genetics and National Neonatal Screening GISÈLE BONNE Laboratories Department of General Pediatrics Institut de Myologie UPMC University Children’s Hospital Vienna Groupe Hospitalier Pitié-Salpêtrière Vienna Paris Austria France [email protected] [email protected] xx List of Contributors

KEVIN M. BONNEY HENRI BOUNAMEAUX Departments of Pathology and Microbiology-Immunology Angiology and Hemostasis Northwestern University Feinberg School of Medicine University Hospitals of Geneva Chicago, IL Geneva USA Switzerland [email protected] [email protected]

THOMAS BOURGERON CHRISTOPHER J. BOOS Hemostasis, Thrombosis and Vascular Biology Unit Pasteur Institute University Department of Medicine University Denis Diderot City Hospital Paris Birmingham France UK [email protected]

PATRICIA T. BOZZA FRANCESCO BORGIA Immunopharmacology Laboratory Institute of Dermatology Instituto Oswaldo Cruz Policlinico Universitario Fundação Oswaldo Cruz Messina Rio de Janeiro Italy Brazil [email protected] JULIAN ILCHEFF BORISSOFF Laboratory for Clinical Thrombosis and Hemostasis MARIA LUISA BRANDI Department of Internal Medicine Regional Center for Hereditary Endocrine Tumours University of Maastricht Department of Internal Medicine Maastricht University of Florence The Netherlands Florence Italy [email protected] STEFAN R. BORNSTEIN Medical Clinic III THOMAS BRANDT University Hospital Dresden Department of Neurology Dresden Ludwig-Maximilians-University Germany Klinikum Großhadern [email protected] Munich Germany CARL BORREBAECK [email protected] Department of Immunotechnology Lund University MARKUS BRAUN-FALCO Lund Department of Dermatology University of Freiburg [email protected] Freiburg Germany NIELS BORREGAARD [email protected] Department of Hematology Rigshospitalet University of Copenhagen ALANNA F. BREE Copenhagen Texas Children’s Hospital Denmark Houston, TX [email protected] USA [email protected]

DORIN-BOGDAN BORZA RANDOLF BREHLER Division of Nephrology Department of Dermatology Vanderbilt University School of Medicine University Hospital of Muenster Nashville, TN Muenster USA Germany [email protected] [email protected]

MARK BOTHWELL MICHAEL BRIGGS Department of Physiology and Biophysics Wellcome Trust Centre for Cell Matrix Research University of Washington University of Manchester Seattle, WA Manchester USA UK [email protected] [email protected] List of Contributors xxi

PEDRO BRITES TOMAS BRYCHTA Laboratory of Genetic Metabolic Disorders SPEA Olomouc, s.r.o. Academic Medical Center Olomouc University of Amsterdam Czech Republic Amsterdam [email protected] The Netherlands [email protected] SVETLANA BRYCHTOVA Department of Pathology and Laboratory of Molecular KNUT BROCKMANN Pathology Department of Pediatrics and Pediatric Neurology Palacky University University of Goettingen Olomouc Goettingen Czech Republic Germany [email protected] [email protected]

JAN BUBENÍK STEFAN BRÖER Department of Tumour Immunology School of Biochemistry and Molecular Biology Institute of Molecular Genetics Australian National University Academy of Sciences of the Czech Republic Canberra, ACT Prague Australia Czech Republic [email protected] [email protected]

EIRINI I. BROKALAKI THORSTEN BUCH Department of Dermatology, Allergology and Venerology University Clinic Zurich University of Duisburg-Essen Zurich Essen Switzerland Germany [email protected] [email protected]

KAREN BUCKINGHAM DAVID W. BROWN Department of Obstetrics and Gynaecology Department of Cardiology University of Auckland Children’s Hospital Auckland, AUK Boston, MA New Zealand USA [email protected] [email protected]

MARK G. BUCKLEY EDWARD M. BROWN Division of Endocrinology, Diabetes and Hypertension Infection, Inflammation and Repair Brigham and Women’s Hospital University of Southampton Boston, MA School of Medicine USA Southampton [email protected] UK

LEENA BRUCKNER-TUDERMAN DENNIS E. BULMAN Department of Dermatology Ottawa Health Research Institute University Medical Center Ottawa, ON Freiburg Canada Germany [email protected] [email protected] CARSTEN BÜNING ANNA BRUNN Department of Gastroenterology, Department of Neuropathology Hepatology and Endocrinology University of Cologne Charité University Hospital Cologne Berlin Germany Germany [email protected] MARTINA BRUNNER Department of Dermatology, Venerology, Allergology and GÜNTER BURG Immunology Department of Dermatology Dessau Medical Center University Hospital Zurich Dessau Zurich Germany Switzerland [email protected] [email protected] xxii List of Contributors

ANNIKA BUROW CECILIA CAMACHO-HÜBNER Swiss Cardiovascular Center Bern Pediatric Endocrinology Section University Hospital Department of Endocrinology Bern St. Bartholomew’s Hospital Switzerland London UK [email protected] HARAN BURRI Cardiovascular Department Hôpital de La Tour MARYANN CAMERON Meyrin Center for Mineral Metabolism and Clinical Research Switzerland University of Texas Southwestern Medical Center Dallas, TX USA ANDREW K. BURROUGHS Department of Liver Transplantation [email protected] and Hepatobiliary Surgery Royal Free Hospital MICHAEL CANTZ Hampstead, London Institute of Pathology UK University of Heidelberg [email protected] Heidelberg Germany [email protected] BARBARA BUSERT Institute of Human Genetics Bonn GIOVAMBATTISTA CAPASSO Germany Department of Medicine Second University of Naples Naples LUCA BUSETTO Department of Medical and Surgical Sciences Italy University of Padova [email protected] Padova Italy JONATHAN R. CARAPETIS [email protected] Menzies School of Health Research Charles Darwin University Darwin, NT KATE BUSHBY Institute of Human Genetics Australia Newcastle University [email protected] International Centre for Life Newcastle upon Tyne MARTIN C. CAREY UK Gastroenterology Division, Harvard Medical School [email protected] Brigham and Women’s Hospital Boston, MA USA SÍLVIA BUSQUETS Departament de Bioquímica i Biologia Molecular [email protected] Universitat de Barcelona Barcelona MICHELLE A. CAREY Spain Laboratory of Respiratory Biology [email protected] NIH/NIEHS Research Triangle Park, NC USA JANINE BÜTTNER Department of Gastroenterology, Hepatology and Endocrinology NATALIA CASAMITJANA Charité University Hospital Servei d’Immunologia Berlin Hospital de Sant Pau Germany Barcelona [email protected] Spain

KENNETH CALAMIA MARCIA SPINELLI CASANOVA Department of Rheumatology Department of Oral Diagnosis Mayo Clinic UNICAMP, Piracicaba Dental School Jacksonville, FL São Paulo USA Brazil [email protected] [email protected] List of Contributors xxiii

STEFANO CASCINU ANTHONY CHANG Clinica di Oncologia Medica Section of Nephrology Università Politecnica delle Marche University of Chicago Ospedali Riuniti Umberto I – GM Lancisi – G Salesi di Chicago, IL Ancona USA Ancona Italy PETER CHARBEL ISSA [email protected] Department of Ophthalmology University of Bonn MARCO CASTORI Bonn Medical Genetics, Experimental Medicine Department Germany University La Sapienza S. Camillo-Forlanini Hospital SAURABH CHATTERJEE Rome Immunology and Hyperthermia Section Italy Radiation Biology and Health Sciences Division [email protected] Bhabha Atomic Research Centre Mumbai PATRIZIO CATUREGLI India Department for Pathology and Immunology Johns Hopkins University KAZUAKI CHAYAMA Baltimore, MD Department of Medicine and Molecular Science USA Graduate School of Biomedical Sciences Hiroshima University ANDREA CAVANI Hiroshima Laboratory of Immunology and Allergology ’ Japan Istituto Dermopatico dell Immacolata [email protected] IDI-IRCCS Rome Italy ROY F. CHEMALY [email protected] Department of Infectious Diseases, Infection Control and Employee Health The University of Texas M. D. Anderson Cancer Center FERNANDO CENDES Houston, TX Department of Neurology USA University of Campinas – UNICAMP [email protected] Campinas, SP Brazil [email protected] ZHUANG CHEN Department of Pediatrics, Biochemistry and Molecular Biology LORENZO CERRONI Department of Dermatology Indiana University School of Medicine Medical University of Graz Herman B Wells Center for Pediatric Research Graz Indianapolis, IN Austria USA [email protected] S. R. WAYNE CHEN ELIZA F. CHAKRAVARTY Libin Cardiovascular Institute of Alberta Division of Immunology and Rheumatology University of Calgary Stanford University School of Medicine Calgary, AB Palo Alto, CA Canada USA [email protected] [email protected] ALFREDO CHETTA STEPHEN CHALLACOMBE Department of Clinical Sciences, Respiratory Disease Section Department of Oral Medicine University of Parma Kings College London Dental Institute Parma London Italy UK [email protected]

LARRY CHAMLEY KAVITHA M. CHINNAIYAN Fertility Plus Division of Cardiology, Department of Internal Medicine Greenlane Clinical Centre William Beaumont Hospital Auckland, AUK Royal Oak, MI New Zealand USA [email protected] [email protected] xxiv List of Contributors

PERCY CHIU ADRIAN J. L. CLARK Department of Obstetrics and Gynecology Pediatric Endocrinology Section College of Medicine Department of Endocrinology Pennsylvania State University St. Bartholomew’s Hospital Hershey, PA London USA UK

PAUL CHEUNG-LUNG CHOI ANTHONY J. CLEARE Department of Anatomical and Cellular Pathology Institute of Psychiatry Prince of Wales Hospital Kings College London Chinese University of Hong Kong London Hong Kong Special Administrative Region UK People’s Republic of China [email protected]

EVANGELOS CHOLONGITAS ANGEL COGOLLUDO Department of Liver Transplantation and Hepatobiliary Department of Pharmacology Surgery School of Medicine Royal Free Hospital University Complutense of Madrid Hampstead, London Madrid UK Spain [email protected] JANICE Y. C HOU Section on Cellular Differentiation, Heritable DENNIS V. C OKKINOS Disorders Branch First Cardiology Department National Institute of Child Health and Human Development Onassis Cardiac Surgery Center National Institutes of Health Athens Bethesda, MD Greece USA [email protected] [email protected] NANANDA F. COL CHIU-WING WINNIE CHU Center for Outcomes Research and Evaluation Department of Diagnostic Radiology and Organ Imaging Maine Medical Center Prince of Wales Hospital Portland, ME Hong Kong Special Administrative Region USA People’s Republic of China [email protected]

DAVID E. C. COLE KIRPAL S. CHUGH Departments of Laboratory Medicine and Pathobiology, Department of Nephrology Medicine and Pediatrics (Genetics) Postgraduate Institute of Medical Education and Research University of Toronto Chandigarh Toronto, ON India Canada [email protected] GIUSEPPINA COPPOLA ROBERTO CICCONE Unit of Rheumatology, Department of Clinical Medicine and Genetica Medica Immunological Sciences Università di Pavia University of Siena Pavia Siena Italy Italy [email protected] ANDREA CIGNARELLA Department of Pharmacological Sciences VALÉRIE CORMIER-DAIRE University of Milan Département de Génétique and INSERM Milan Université Paris V Italy Hôpital Necker Enfants Malades [email protected] Paris France DANIELA CILLONI Department of Clinical and Biological Sciences CATHERINE E. CORREIA University of Turin, S.Luigi Hospital Division of Pediatric Endocrinology Turin University of Florida College of Medicine Italy Gainsville, FL [email protected] USA List of Contributors xxv

JONATHAN CORREN PEDRO R. CUTILLAS Allergy Research Foundation Luwig Institute for Cancer Research Los Angeles, CA London USA UK [email protected] [email protected]

BRUNO DALLAPICCOLA LAURA IRIS COSEN-BINKER Cátedra de Gastroenterología y Enzimología Clínica – Department of Experimental Medicine Departamento de Bioquímica Clínica, Facultad de Farmacia y University La Sapienza and CSS-Mendel Institute Bioquímica Rome Universidad de Buenos Aires Italy Buenos Aires [email protected] Argentina [email protected] ROBERT DALLA POZZA Department of Pediatric Cardiology Ludwig-Maximilians-University CORNELIUS COURTS Munich Department of Neuropathology Germany University of Cologne [email protected] Cologne Germany HENRYK DANCYGIER Department of Internal Medicine II PATRICK COUTURE Klinikum Offenbach GmbH Institute on Nutraceuticals and Functional Foods Offenbach Laval University Germany Québec, QC [email protected] Canada ADRIAN DANEK Department of Neurology JACK B. COWLAND Ludwig-Maximilians-University Munich Department of Hematology Munich Rigshospitalet University of Copenhagen Germany Copenhagen [email protected] Denmark [email protected] RUTH DANZEISEN Department of Neurology JAMES E. CROWE JR. University of Ulm Program in Vaccine Sciences Ulm Vanderbilt University Germany Nashville, TN [email protected] USA [email protected] SUKRAN DARCAN Department of Pediatric Endocrinology and Metabolism ANNETTE CRYER Faculty of Medicine Department of Otorhinolaryngology Ege University Klinikum Karlsruhe gGmbH Bornova İzmir Karlsruhe Turkey Germany [email protected]

NIKLAS DARIN ANTONIO L. CUESTA-MUÑOZ Department of Pediatrics Centre for the Study of Monogenic Diseases of Pancreatic Sahlgrenska University Hospital Beta-cell Göteborg Fundación IMABIS, Carlos Haya Hospital Sweden Málaga [email protected] Spain [email protected] WALTER DÄUBENER Institute of Medical Microbiology and Hospital Hygiene VANESSA F. CURY University Clinic Departments of Pharmacology and Oral Pathology Heinrich-Heine-University Universidade Federal de Minas Gerais Duesseldorf Belo Horizonte Germany Brazil [email protected] xxvi List of Contributors

SANDEEP S. DAVE HANNA DEBIEC Department of Medicine, Oncology Division University Pierre et Marie Curie Institute for Genome Sciences and Policy Paris Duke University France Durham, NC [email protected] USA [email protected] MARTINA DECKERT Department of Neuropathology GLORIA L. DAV ID University of Cologne Laboratory of Respiratory Biology Cologne NIH/NIEHS Germany Research Triangle Park, NC [email protected] USA CHARUNGTHAI DEJTHEVAPORN BATYA B. DAVIDOVICI Centre for Neuromuscular Disease and Department of The Dermatology Unit Molecular Neuroscience Kaplan Medical Center Institute of Neurology Rechovot University College London Israel London UK

H. DELE DAVIES Department of Pediatrics ETIENNE DELACRÉTAZ Alberta Children’s Hospital Swiss Cardiovascular Center Bern University of Calgary University Hospital Calgary, AB Bern Canada Switzerland [email protected]

TERRY F. DAV IE S ANTONIO V. D ELGADO-ESCUETA Division of Endocrinology Comprehensive Epilepsy Program, Epilepsy Genetics/ Mount Sinai School of Medicine Genomics Laboratories and Epilepsy Center of Excellence New York, NY UCLA School of Medicine and VA GLAHS USA Los Angeles, CA [email protected] USA [email protected] MANNING R. DAVIS Department of Physiology and Biophysics LUIZ DE MARCO University of Mississippi Medical Center Departments of Pharmacology and Oral Pathology Jackson, MS Universidade Federal de Minas Gerais USA Belo Horizonte [email protected] Brazil [email protected] PETER DE JONGHE Neurogenetics Group S. DE MARIE VIB Department of Molecular Genetics Department of Medical Microbiology and Infectious Diseases University of Antwerp Erasmus University Medical Centre Antwerp Rotterdam Belgium The Netherlands [email protected]

JONAS DENECKE OSCAR DE LA CALLE-MARTIN Department of Pediatrics Servei d’Immunologia University of Rostock Hospital de Sant Pau Rostock Barcelona Germany Spain [email protected] [email protected]

LEE A. DENSON KLAUS-MICHAEL DEBATIN Division of Gastroenterology, Hepatology, and Nutrition Division of Pediatric Endocrinology and Diabetes Cincinnati Children’s Hospital Medical Center University of Ulm Cincinnati, OH Ulm USA Germany [email protected] List of Contributors xxvii

GORDON DENT OLIVIER DEVUYST Institute of Science and Technology in Medicine Division of Nephrology Keele University UCL Medical School Keele, Staffordshire Brussels UK Belgium [email protected] [email protected]

JEAN-CHARLES DEYBACH FLAVIA DE PAULA Centre Français des Porphyries Human Genome Research Center INSERM Department of Genetics and Evolutionary Biology Hôpital Louis Mourier Institute of Biosciences Colombes University of São Paulo France São Paulo [email protected] Brazil

ROEL DE WEGER CHRISTOPHE DEPRE Department Pathology Cardiovascular Research Institute Molecular and Immuno-Pathology Department of Cell Biology and Molecular Medicine University Medical Center Utrecht UMDNJ Utrecht Newark, NJ The Netherlands USA [email protected] [email protected] NARANJAN S. DHALLA St. Boniface General Hospital Research Centre MARCO C. DERUITER University of Manitoba Department of Anatomy and Embryology Winnipeg, MB Leiden University Medical Center Canada Leiden [email protected] The Netherlands [email protected] ALESSIA DIANA Dipartimento Clinico Veterinario ELOISA DE SÁ MOREIRA Università degli Studi di Bologna Human Genome Research Center Bologna Department of Genetics and Evolutionary Biology Italy Institute of Biosciences [email protected] University of São Paulo São Paulo MARTIN DICHGANS Brazil Department of Neurology [email protected] Ludwig-Maximilians-University Munich Munich Germany MARCUS DESCHAUER [email protected] Department of Neurology University of Halle-Wittenberg ARNE W. J. H. DIELIS Halle/Saale Laboratory for Clinical Thrombosis and Hemostasis Germany Departments of Internal Medicine and Biochemistry [email protected] Maastricht University Maastricht The Netherlands ROBERT J. DESNICK Department of Genetics and Genomic Sciences Mount Sinai School of Medicine of New York University THOMAS DIERKS New York, NY Department of Biochemistry USA University of Bielefeld [email protected] Bielefeld Germany [email protected] DARRYL C. DE VIVO Colleen Giblin Laboratories for Pediatric Neurology Research WOLFGANG DIETMAIER Department of Neurology Institute of Pathology Columbia University University of Regensburg New York, NY Regensburg USA Germany [email protected] [email protected] xxviii List of Contributors

M.CRISTINA DIGILIO OLIVIER DORSEUIL Medical Genetics Département de Génétique et Développement Bambino Gesù Hospital Institut Cochin Rome INSERM Université Paris Descartes Italy Paris [email protected] France [email protected] GERHARD-PAUL DILLER Adult Congenital Heart Centre and Centre for Pulmonary ADEL DRISS Hypertension, Royal Brompton Hospital and the National Winship Cancer Institute Heart and Lung Institute Emory University Imperial College Atlanta, GA London USA UK [email protected] [email protected]

MAARTEN R. DROST HANER DIRESKENELI Department of Movement Sciences Marmara University Medical School Maastricht University Istanbul Maastricht Turkey The Netherlands [email protected] [email protected]

ANGELA DISPENZIERI Division of Hematology and Internal Medicine OLIVIER DULAC Mayo Clinic and Mayo Foundation Department of Pediatric Neurology Rochester, MN Hôpital Necker Enfants Malades USA Paris [email protected] France [email protected] KLAUS DITTMANN Division of Radiobiology & Molecular Environmental REINHARD DUMMER Research Department of Dermatology Department of Radiation Oncology University Hospital Zurich Eberhard-Karls University Zurich Tuebingen Switzerland Germany [email protected]

MARIA TERESA DIVIZIA MARIE-ESTELLE DUPONT Laboratory of Molecular Genetics Département de Psychiatrie de l’Adolescent G. Gaslini Institute et du Jeune Adulte Department of Pediatrics Institut Mutualiste Monsouris University of Genova Paris Genova France Italy [email protected]

MATTHEW B. DOBBS MARINUS DURAN Department of Orthopedic Surgery Department of Clinical Chemistry Washington University School of Medicine University of Amsterdam Saint Louis, MO Amsterdam USA The Netherlands [email protected]

MARKUS G. DONNER REYNA M. DURON Clinic for Gastroenterology, Hepatology and Infectiology Comprehensive Epilepsy Program, Epilepsy Genetics/ Heinrich-Heine-University Genomics Laboratories and Epilepsy Center of Excellence Duesseldorf UCLA School of Medicine and VA GLAHS Germany Los Angeles, CA [email protected] USA

DAN DONOGHUE PIROOZ EGHTESADY Department of Chemistry and Biochemistry Division of Cardiothoracic Surgery University of California Cincinnati Children’s Hospital Medical Center San Diego, CA Cincinnati, OH USA USA [email protected] [email protected] List of Contributors xxix

JAN EHRCHEN HOLGER K. ELTZSCHIG Department of Dermatology Mucosal Inflammation Program University of Muenster Department of Anesthesiology and Perioperative Medicine Muenster University of Colorado Health Sciences Center Germany Denver, CO USA [email protected] GEORGE E. EHRLICH University of Pennsylvania School of Medicine Philadelphia, PA MICHAEL EMBERGER USA Department of Dermatology [email protected] Paracelsus Private Medical University Salzburg Austria HENK EIJER Orthopedic Department Sonnenhof Clinic FUMIO ENDO Bern Department of Pediatrics Switzerland Kumamoto University Graduate School of Medical Science [email protected] Kumamoto Japan

CLAUS FERDINAND EISENBERGER Department of General, Visceral and Pediatric Surgery MAYUMI ENDO University Hospital Duesseldorf Department of Medicine Heinrich Heine University Teine Keijinkai Hospital Duesseldorf Teine, Sapporo Germany Japan [email protected] [email protected]

ANDREW G. ENGEL GRAEME EISENHOFER Department of Neurology Clinical Neurocardiology Section UCLA School of Medicine NINDS, National Institutes of Health Reed Neurologic Research Center Bethesda, MD Mayo Clinic USA Rochester, MN [email protected] USA [email protected] CHRISTIAN ELGER Department of Epileptology JUTTA ENGEL University of Bonn Institute of Physiology Department II and Tuebingen Hearing Bonn Research Center Germany Tuebingen [email protected] Germany [email protected] LEAH I. ELIZONDO Interdepartmental Program in Cell and Molecular Biology DAVID M. ENGMAN Baylor College of Medicine Departments of Pathology and Microbiology-Immunology Houston, TX Northwestern University Feinberg School of Medicine USA Chicago, IL [email protected] USA [email protected] KAM-LUN ELLIS HON Department of Pediatrics, Prince of Wales Hospital REGINA ENSENAUER The Chinese University of Hong Kong Dr. von Haunersches Kinderspital Hong Kong Special Administrative Region Ludwig-Maximilians-University People’s Republic of China Munich Germany SARAH H. ELSEA [email protected] Departments of Pediatrics and Human Genetics Medical College of Virginia Campus GIULIANO ENZI Virginia Commonwealth University Department of Medical and Surgical Sciences Richmond, VA University of Padova USA Padova [email protected] Italy xxx List of Contributors

CHARLES J. EPSTEIN ANALEE J. ETHEREDGE Department of Neurology and Neurological Sciences Institute of Biosciences and Technology Stanford University Texas A&M University System Health Science Center Palo Alto, CA Houston, TX USA USA [email protected]

AMOS ETZIONI ELARDUS ERASMUS Department of Immunology School of Biochemistry Meyer Children’s Hospital North-West University Haifa Potchefstroom Israel South Africa [email protected] [email protected]

CEM EVEREKLIOGLU ANDREAS ERHARDT Department of Ophthalmology Department of Gastroenterology, Hepatology and Infectious Erciyes University Medical Faculty Diseases Kayseri Heinrich-Heine University of Duesseldorf Turkey Duesseldorf [email protected] Germany [email protected] DAVID B. EVERMAN Greenwood Genetic Center SEHSUVAR ERTÜRK Greenwood, SC Department of Nephrology USA Ankara University School of Medicine [email protected] Ankara Turkey [email protected] VINCENT EVERTS Department. of Oral Cell Biology Academic Centre for Dentistry JOAQUIN ESCRIBANO University of Amsterdam and VU University Amsterdam Pediatric Nephrology Unit Amsterdam Hospital Universitari Sant Joan The Netherlands Reus Spain [email protected] JUSTIN A. EZEKOWITZ Division of Cardiology Walter Mackenzie Center MICHAEL ESCUDIER Department of Oral Medicine Kings College London Dental Institute Edmonton, AB London Canada UK [email protected]

DANIELA ESER LYNETTE D. FAIRBANKS Department of Psychiatry Purine Research Laboratory Ludwig-Maximilian-University Munich Guy’s Hospital Munich London Germany UK [email protected] [email protected],uk

MICHELLE M. ESTRELLA MUHAMMAD FAIYAZ-UL-HAQUE Department of Nephrology Department of Genetics Johns Hopkins University School of Medicine The Hospital for Sick Children Baltimore, MD Toronto, ON USA Canada [email protected] [email protected]

MARKUS ESZLINGER ALBERTO FALCHETTI III. Medical Department Regional Center for Hereditary Endocrine Tumours University of Leipzig Department of Internal Medicine Leipzig University of Florence Germany Florence [email protected] Italy List of Contributors xxxi

RONNIE FASS DOMINIQUE FIGARELLA-BRANGER Southern Arizona VAHealth Care System and Arizona Health Laboratoire de Biopathologie Nerveuse et Musculaire Sciences Center Faculté de Médecine de Marseille University of Arizona Marseille Tucson, AZ France USA [email protected] [email protected] VOLKER FINGERLE PAV E L FENCL Bavarian Health and Food Safety Authority Department of Nuclear Medicine Munich PET Centre Germany Na Homolce Hospital [email protected] Prague Czech Republic JOHN W. FINLEY [email protected] USDA ARS Grand Forks Human Nutrition Research Center Grand Forks, ND PETER FERENCI Department of Internal Medicine III, Gastroenterology and USA Hepatology [email protected] Vienna Medical University Vienna RICHARD H. FINNELL Austria Institute of Biosciences and Technology [email protected] Texas A&M University System Health Science Center Houston, TX USA ALBERTO FERLIN Department of Histology, Microbiology and Medical Biotechnologies JOSEF FINSTERER Section of Clinical Pathology and Centre for Male Gamete KA Rudolfstiftung Cryopreservation Vienna University of Padova Austria Padova [email protected] Italy [email protected] ANTONELLA FIORAVANTI Unit of Rheumatology Department of Clinical Medicine and Immunological ATTEYET-ALLA FETOUH YASSIN Institute of Medical Microbiology, Immunology and Sciences Parasitology University of Siena Friedrich-Wilhelms-University Siena Bonn Italy Germany [email protected] [email protected] TOBIAS W. FISCHER Department of Dermatology, Venerology and Allergy GIORA Z. FEUERSTEIN University Hospital Schleswig-Holstein Wyeth Research University of Luebeck Discovery Translational Medicine Luebeck Collegeville, PA Germany USA [email protected] [email protected]

AVI FISCHER BÄRBEL FIEDLER Division of Cardiac Electrophysiology and Arrhythmia University of Muenster Service Children’s Hospital Mount Sinai Hospital and School of Medicine Muenster New York, NY Germany USA

JOSHUA FIERER M. DOMINIK FISCHER Division of Infectious Diseases, Department of Medicine Centre for Ophthalmology University of California at San Diego Institute for Ophthalmic Research San Diego, CA University Tuebingen USA Tuebingen [email protected] Germany xxxii List of Contributors

PAMELA FISCHER POSOVZSKY JEAN FRANCIS Division of Pediatric Endocrinology and Diabetes Department of Internal Medicine University of Ulm Hospital of St. Raphael Ulm New Haven, CT Germany USA

MONIKA FLECKENSTEIN DIEGO FRANCO Department of Ophthalmology Department of Experimental Biology University of Bonn University of Jaen Bonn Jaen Germany Spain [email protected]

THOMAS A. FLEISHER Department of Laboratory Medicine JORGE FRANK Clinical Center MUCMD National Institute of Health, DHHS University Medical Center Maastricht Bethesda, MD Maastricht USA The Netherlands [email protected] [email protected]

KAREL FRASCH JUSTINE H. S. FONG Asian Medical Centre Department of Psychiatry II University of Calgary Medical Clinic University of Ulm Calgary, AB Guenzburg Canada Germany [email protected]

BERTRAND FONTAINE KENDALL S. FRAZIER INSERM Safety Assessment Université Pierre et Marie Curie, UMR GlaxoSmithKline Paris King of Prussia, PA France USA [email protected] CARLO FORESTA Department of Histology, Microbiology and Medical ROGER A. FREEDMAN Biotechnologies Division of Cardiology Section of Clinical Pathology and Centre for Male Gamete University of Utah Cryopreservation Salt Lake City, UT University of Padova USA Padova [email protected] Italy

BARRY I. FREEDMAN DOUGLAS FORREST Internal Medicine, Section on Nephrology NIDDK, National Institutes of Health Wake Forest University School of Medicine Bethesda, MD Winston-Salem, NC USA USA [email protected] [email protected]

IRMGARD FÖRSTER NORBERT FREY Institut für Umweltmedizinische Forschung gGmbH Department of Cardiology University of Duesseldorf University of Heidelberg Duesseldorf Heidelberg Germany Germany [email protected] [email protected]

FEDERICO FRACASSI GÉRARD FRIEDLANDER Dipartimento Clinico Veterinario INSERM Università degli Studi di Bologna University of Paris Bologna Paris Italy France [email protected][email protected] List of Contributors xxxiii

THOMAS FRIELING MASAFUMI FUKAGAWA Medical Clinic II Division of Nephrology & Kidney Center Helios Klinikum Krefeld Kobe University School of Medicine Krefeld Kobe Germany Japan to [email protected] [email protected]

ANDREAS FRITSCHE KEIICHI FUKUDA Department of Internal Medicine Department of Regenerative Medicine and Advanced Cardiac Division of Endocrinology, Angiology, Nephrology and Therapeutics Clinical Chemistry Keio University School of Medicine University Hospital Tuebingen Tuebingen Japan Germany [email protected]

STEPHAN J. FROEHLICH GÉRARD GACON Eye Clinic Département de Génétique et Développement Ludwig-Maximilians-University Munich Institut Cochin Munich INSERM Germany Université Paris Descartes [email protected] Paris France [email protected] EDWARD D. FROHLICH Ochsner Clinic Foundation New Orleans, LA WILLIAM A. GAHL USA Section of Human Biochemical Genetics, Heritable Disorders Branch National Human Genome Research Institute MICHAEL FROMM Bethesda, MD Clinical Physiology USA Campus Benjamin Franklin [email protected] Charité Berlin MARCIAL FRANCIS GALERA Germany Faculdade de Medicina [email protected] Universidade de Cuiabá Cuiabá PATRICK FROSK Brazil Department of Biochemistry and Medical Genetics University of Manitoba NATALIE GALL Winnipeg, MB Department of Dermatology and Allergology Canada University of Ulm [email protected] Ulm Germany DIETMAR FUCHS Department of Biological Chemistry CARLOS GALLIANI Biocenter Department of Pathology Medical-University of Innsbruck Cook Children’s Hospital Innsbruck Fort Worth, TX Austria USA [email protected] [email protected]

ARNO FUCHSHUBER JÜRGEN GALLINAT University Children’s Hospital Department of Psychiatry and Psychotherapy Freiburg Charité Berlin Germany Berlin [email protected] Germany [email protected] TOSHIRO FUJITA Department of Nephrology and Endocrinology VICTOR M. GARCA NIETO University of Tokyo Graduate School of Medicine Pediatric Nephrology Unit, Hospital Ntra. Tokyo Sra. de Candelaria Japan Santa Cruz de Tenerife [email protected] Spain xxxiv List of Contributors

ANGELS GARCÍA-CAZORLA MICHEL GAUTIER Neurology Department Laboratoire de Microbiologie Hospital Sant Joan de Déu UMR STLO, INRA Barcelona Rennes Spain France [email protected] [email protected]

HELENA M. GARDINER HANS-JÜRGEN GDYNIA Institute of Reproductive and Developmental Biology Department of Neurology Faculty of Medicine University of Ulm Imperial College Ulm Queen Charlotte’s and Chelsea Hospital Germany London [email protected] UK [email protected] KAREL GEBOES Department of Pathology SAURABH K. GARG University Hospital Leuven Department of Environmental and Biomolecular Systems Leuven OGI School of Science and Engineering Belgium Oregon Health and Science University [email protected] Beaverton, OR USA URBAN W. GEISTHOFF Department of Otorhinolaryngology GAETANO GARGIULO Hospitals of the City of Cologne Pediatric Cardiac Surgery Unit HNO Holweide S. Orsola-Malpighi Hospital Cologne Bologna Germany Italy [email protected]

STANLEY M. GARTLER DAVID S. GELLER Department of Medicine Section of Nephrology Division of Medical Genetics Yale University School of Medicine University of Washington New Haven, CT Seattle, WA USA USA [email protected]

THOMAS GASSER Department of Neurodegnerative Diseases DAVID GENEVIEVE Hertie-Institute for Clinical Brain Research Département de Génétique Center of Neurology INSERM Tuebingen Hôpital Necker Enfants-Malades Germany Paris [email protected] France

ZORAN GATALICA MICHAEL T. GERAGHTY Department of Pathology Children’s Hospital of Eastern Ontario Creighton University School of Medicine Ottawa, ON Omaha, NE Canada USA [email protected] [email protected] IVOR L. GERBER NORBERT GATTERMANN Department of Cardiology Department of Hematology, Oncology and Clinical Green Lane Cardiovascular Service Immunology Auckland City Hospital Heinrich-Heine-University Auckland, AUK Duesseldorf New Zealand Germany [email protected] [email protected] VICTOR E. A. GERDES MICHAEL A. GATZOULIS Department of Vascular Medicine Adult Congenital Heart Disease Unit Amsterdam Vascular Medicine Group Royal Brompton and Harefield NHS Trust Academic Medical Center London Amsterdam UK The Netherlands [email protected] [email protected] List of Contributors xxxv

M. ERIC GERSHWIN ROBERTO GIORDA Division of Internal Medicine Molecular Biology Laboratory Department of Clinical Sciences ‘Luigi Sacco’ E. Medea Scientific Institute University of Milan Bosisio Parini, Lecco Milan Italy Italy [email protected] SANTHOSH GIRIRAJAN Departments of Pediatrics and Human Genetics CRISTINA GERVASINI Medical College of Virginia Campus Division of Medical Genetics Virginia Commonwealth University San Paolo School of Medicine Richmond, VA University of Milan USA Milan Italy GIAMPIERO GIROLOMONI Department of Biomedical and Surgical Sciences TAL GEVA Section of Dermatology Department of Cardiology University of Verona Children’s Hospital Verona Boston, MA Italy USA [email protected] [email protected] ADRIANA C. GITTENBERGER-DE GROOT ISMAT GHANEM Department of Anatomy and Embryology Department of Orthopedic Surgery Leiden University Medical Center Hotel-Dieu de France Hospital Leiden Saint Joseph University The Netherlands Beirut [email protected] Lebanon [email protected] BENJAMIN GLASER Endocrinology and Metabolism Service PHILIP F. GIAMPIETRO Internal Medicine Division Department of Medical Genetic Services Hebrew University-Hadassah Medical School Marshfield Clinic Jerusalem Marshfield, WI Israel USA [email protected] [email protected] PETER J. GOADSBY VOLKMAR GIESELMANN Headache Group Institute for Physiological Chemistry Department of Neurology University Bonn University of California Bonn San Francisco, CA Germany USA [email protected] [email protected]

RICHARD E. GILBERT HANS H. GOEBEL Keenan Research Centre Department of Neuropathology Li Ka Shing Knowledge Institute Johannes-Gutenberg University Medical Center St. Michael’s Hospital and University of Toronto Mainz Toronto, ON Germany Canada [email protected] [email protected] SERGIJ GOERDT JAMES M. GILCHRIST Department of Dermatalogy, Venereology and Allergology Department of Clinical Neurosciences University Medical Centre Mannheim Brown Medical School Ruprechts-Karls-University of Heidelberg Providence, RI Mannheim USA Germany [email protected] [email protected]

PERE GINÈS ERIC GOFFIN University of Barcelona Departments of Nephrology and Radiology IDIBAPS Cliniques Universitaires Saint-Luc Barcelona Brussels Spain Belgium [email protected] [email protected] xxxvi List of Contributors

LEV G. GOLDFARB HULYA ILIKSU GOZU Department of Health and Human Services Section of Endocrinology and Metabolism National Institutes of Health Dr. Lutfi Kirdar Kartal Education and Research Hospital Bethesda, MD Istanbul USA Turkey [email protected] [email protected]

ELIZABETH GOLDMUNTZ JÜRGEN GRABBE Division of Cardiology Department of Dermatology Children’s Hospital of Philadelphia Medical University of Luebeck Philadelphia, PA Luebeck USA Germany [email protected] [email protected]

NETA GOLDSCHMIDT STEPHAN GRABBE Hematology Department Department of Dermatology Hadassah – Hebrew University Medical Centre Johannes-Gutenberg-University Hospital Jerusalem Mainz Israel Germany [email protected] [email protected]

DANIEL R. GOLDSTEIN DONATELLA GRANCHI Department of Internal Medicine Laboratorio di Fisiopatologia degli Impianti Ortopedici Section of Cardiovascular Medicine Istituto Ortopedico Rizzoli Yale University School of Medicine Bologna New Haven, CT Italy USA [email protected] [email protected] BERNARD GRANDCHAMP RICARDO S. GOMEZ Service de Biochimie B Departments of Pharmacology and Oral Pathology Hôpital Bichat Universidade Federal de Minas Gerais Paris Belo Horizonte France Brazil [email protected]

PHILLIP GORDEN ALEXEI GRATCHEV National Institute of Diabetes and Digestive and Kidney Department of Dermatalogy, Venereology and Allergology Diseases University Medical Centre Mannheim National Institutes of Health Ruprechts-Karls-University of Heidelberg Bethesda, MD Mannheim USA Germany [email protected] TRACEY D. GRAVES GEORG GOSZTONYI Centre for Neuromuscular Disease Institute of Neuropathology National Hospital for Neurology and Neurosurgery Charité – University Medicine Berlin Department of Molecular Neuroscience Berlin Institute of Neurology Germany London [email protected] UK

YU-ICHI GOTO CHERYL R. GREENBERG Department of Mental Retardation and Birth Defect Research Department of Biochemistry and Medical Genetics National Center of Neurology and Psychiatry University of Manitoba Kodaira, Tokyo Winnipeg, MB Japan Canada [email protected] [email protected]

ROBERT W. GOTSHALL ALMUT GRENZ Health and Exercise Science Mucosal Inflammation Program Colorado State University Department of Anesthesiology and Perioperative Medicine Fort Collins, CO University of Colorado Health Sciences Center USA Denver, CO [email protected] USA List of Contributors xxxvii

OLAV A. GRESSNER JEAN-MARC GUETTIER Institute of Clinical Chemistry and Pathobiochemistry National Institute of Diabetes and Digestive and Kidney BWTH University Hospital Diseases Aachen National Institutes of Health Germany Bethesda, MD [email protected] USA [email protected]

BODO GRIMBACHER Department of Immunology and Molecular Pathology MÓNICA GUEVARA Royal Free Hospital and University College Medical School University of Barcelona London IDIBAPS UK Barcelona [email protected] Spain

OLIVIER GUILBAUD HERMANN-JOSEF GRÖNE Department of Cellular and Molecular Pathology Université René Descartes German Cancer Research Center Paris University of Heidelberg France Heidelberg Germany PER GULDBERG [email protected] Danish Center for Human Genome Research John F. Kennedy Institute Glostrup ROBERT F. GROFF IV Denmark Department of Neurosurgery University of Pennsylvania Philadelphia, PA ORLANDO GUNTINAS-LICHIUS USA Department of Otorhinolaryngology Friedrich-Schiller-University Jena TILMAN GRUNE Germany Institute of Biological Chemistry and Nutrition [email protected] Biofunctionality and Safety of Food University Hohenheim Stuttgart SEFIK GURAN Germany Department of Medical Biology [email protected] Gulhane Medical Academy Ankara Turkey FABRIZIO GUARNERI [email protected] Institute of Dermatology Policlinico Universitario PAVEL GUREVICH Messina Laboratory of Experimental Medicine Italy Rehovot Israel IRENE GUERRINI Molecular Psychiatry Laboratory HUGH M. GURLING Windeyer Institute of Medical Sciences Molecular Psychiatry Laboratory Department of Psychiatry and Behavioural Sciences Windeyer Institute of Medical Sciences Royal Free and University College London Department of Psychiatry and Behavioural Sciences London Medical School Royal Free and University College London London London Medical School UK London [email protected] UK [email protected]

RENZO GUERRINI Pediatric Neurology and Neurogenetics Unit and Laboratories ANGELIKA GUTENBERG Children’s Hospital A.Meyer Department for Neurosurgery University of Florence Georg-August-University Florence Goettingen Italy Germany [email protected] [email protected] xxxviii List of Contributors

FLEMMING GÜTTLER CLAUDIA HAFERLACH Danish Center for Human Genome Research Munich Leukemia Laboratory (MLL) John F. Kennedy Institute Munich Glostrup Germany Denmark [email protected] TORSTEN HAFERLACH Munich Leukemia Laboratory (MLL) YENER GÜZELCAN Munich Reinier van Arkel Group/Jeroen Bosch Hospital Germany Department of Psychiatry ‘s-Hertogenbosch The Netherlands SAMER EL HAGE [email protected] Department of Orthopedic Surgery Hotel-Dieu de France Hospital Saint Joseph University BIRGIT HAACK Beirut Department of Molecular Pathology Lebanon University Hospital of Tuebingen Tuebingen Germany ANDREAS HAHN [email protected] Department of Pediatric Neurology Children’s Medical Center JOOST HAAN University of Giessen and Marburg Department of Neurology Giessen Rijnland Hospital/Leiden University Medical Centre Germany Leiden [email protected] The Netherlands [email protected] ANGELIKA F. HAHN Department of Neurology STEPHAN L. HAAS University of Western Ontario Department of Medicine II (Gastroenterology, Hepatology London Health Science Centre and Infectious Diseases) London, ON University Hospital of Heidelberg at Mannheim Canada Mannheim [email protected] Germany [email protected] AHMET MESRUR HALEFOĞLU Department of Radiology PIRMIN HABERMEHL Şişli Etfal Training and Research Hospital Pediatric University Hospital Şişli, İstanbul Johannes-Gutenberg University Turkey Mainz [email protected] Germany [email protected] TAKAHIRO HAMADA Department of Dermatology JOHANNES HÄBERLE Kurume University School of Medicine University Hospital of Muenster Kurume, Fukuoka Muenster Japan Germany [email protected] [email protected]

PETER HACKMAN RIIKKA H. HÄMÄLÄINEN Department of Medical Genetics Folkhälsan Institute of Genetics and Neuroscience Center Vaasa Central Hospital University of Helsinki University of Helsinki Helsinki Helsinki Finland Finland [email protected]

GEORGIOS M. HADJIGEORGIOU CHRISTIAN HAMEL Department of Neurology, School of Medicine CHU Montpellier University of Thessaly Centre of Reference for Genetic Sensory Diseases Larissa Montpellier Greece France [email protected] [email protected] List of Contributors xxxix

LENNART HAMMARSTÖM JAMES C. HARRIS Karolinska Institute Johns Hopkins University Medical School Department of Laboratory Medicine Baltimore, MD Karolinska University Hospital Huddinge USA Sweden THOMAS C. HART [email protected] National Institute of Dental and Cranio-Facial Research National Institutes of Health C. OLIVER HANEMANN Bethesda, MD Clinical Neurobiology USA Institute of Biomedical and Clinical Science Peninsula Medical School INGA HARTING Tamar Science Park, Plymouth Department of Neuroradiology UK University of Heidelberg Medical Centre [email protected] Heidelberg Germany MICHAEL G. HANNA [email protected] Centre for Neuromuscular Disease National Hospital for Neurology and Neurosurgery ARNDT HARTMANN Department of Molecular Neuroscience Department of Pathology Institute of Neurology University Erlangen London Erlangen UK Germany [email protected] [email protected]

BRANDY J. HARVEY R. SCOTT HANSEN Department of Genome Sciences Department of Cell Biology and Biochemistry University of Washington Texas Tech University Health Sciences Center Seattle, WA Lubbock, TX USA USA Brandy [email protected]

ANN-SOFIE HANSSON GERD HASENFUSS Department of Clinical Immunology Herzzentrum Sahlgrenska University Hospital Georg-August-University Goettingen Gothenburg Goettingen Sweden Germany [email protected] [email protected]

NAOKI HARADA AKMAL HASSAN Kyusyu Medical Science Nagasaki Laboratory Clinic of Dermatology Nagasaki Heinrich-Heine-University Japan Duesseldorf Germany RICHARD W. HARPER MonashHeart SYED HASSAN Monash Medical Centre Elipsis Biotherapeutics Melbourne, VIC Toronto, ON Australia Canada [email protected] [email protected]

MATTHEW HARRIES NAN HATCH Dermatology Centre Department of Orthodontics University of Manchester University of Michigan Hope Hospital Ann Arbor, MI Manchester USA UK [email protected]

JEFFREY P. H ARRIS DIETER HÄUSSINGER Department of Otolaryngology/Head and Neck Surgery Clinic for Gastroenterology, Hepatology and Infectiology University of California Heinrich-Heine-University San Diego School of Medicine Duesseldorf La Jolla, CA Germany USA [email protected] xl List of Contributors

THOMAS HAWRANEK JAN HELLEMANS Department of Dermatology Center for Medical Genetics Paracelsus Private Medical University Ghent University Hospital Salzburg Ghent Austria Belgium [email protected]

RITVA HÄYRINEN-IMMONEN Vantaa Dental Clinic GEOFFREY N. HENDY Helsinki Calcium Research Laboratory, Royal Victoria Hospital, and Finland Departments of Medicine, Physiology and Human Genetics [email protected] McGill University Montreal, QC Canada S. DIANE HAYWARD [email protected] Viral Oncology Program Sidney Kimmel Cancer Center HARTMUT HENGEL Johns Hopkins University Institute for Virology Baltimore, MD Heinrich-Heine-University USA Duesseldorf [email protected] Germany [email protected] DENIS J. HEADON University of Manchester MARKUS HENGSTSCHLÄGER Manchester Medical Genetics, Obstetrics and Gynecology UK Medical University of Vienna [email protected] Vienna Austria [email protected] HARDALLY R. HEGDE Department of Pediatrics RAOUL C. M. HENNEKAM Alberta Children’s Hospital Department of Pediatrics The University of Calgary Academic Medical Center Calgary, AB University of Amsterdam Canada Amsterdam The Netherlands RICHARD G. HEGELE [email protected] Department of Pathology and Laboratory Medicine University of British Columbia WERNER J. HEPPT Vancouver, BC Department of Otorhinolaryngology Canada Klinikum Karlsruhe [email protected] Karlsruhe Germany ULRICH HEININGER [email protected] University Children’s Hospital UKBB DAVID N. HERRMANN Basel Departments of Neurology and Pathology Switzerland University of Rochester [email protected] Rochester, NY USA [email protected] TOBIAS HEINTGES Clinic for Gastroenterology, Hepatology and Infectiology MICHAEL S. HERSHFIELD Heinrich-Heine-University Duesseldorf Department of Biochemistry Duesseldorf Duke University Medical Center Germany Durham, NC [email protected] USA [email protected] MIEP HELFRICH Bone Research Programme ALBRECHT HESSE School of Medicine and Dentistry Department of Urology Institute of Medical Sciences University of Bonn Foresterhill, Aberdeen Bonn UK Germany [email protected] [email protected] List of Contributors xli

REINOUT P. H ESSELINK MICHAEL M. HOFFMANN Pharmacell Division of Clinical Chemistry Maastricht University Hospital Freiburg The Netherlands Freiburg i. Br. [email protected] Germany [email protected] PETER HEUTINK Department of Clinical Genetics SILKE HOFMANN VU University Medical Center Department of Dermatology Amsterdam University Medical Center The Netherlands Freiburg [email protected] Germany [email protected]

WHITNEY A. HIGH MARY H. HOHENHAUS Departments of Dermatology and Pathology Department of Medicine University of Colorado School of Medicine Brown University/The Miriam Hospital Denver, CO Providence, RI USA USA [email protected] [email protected]

FRIEDHELM HILDEBRANDT BERND HOHENSTEIN Department of Pediatrics Department of Nephrology and Hypertension University of Michigan University Erlangen-Nuremberg Ann Arbor, MI Erlangen USA Germany [email protected] HAZEL M. HOLDEN DENISE S. HILL Department of Biochemistry Interdisciplinary Faculty of Toxicology University of Wisconsin Texas A&M University Madison, WI College Station, TX USA USA [email protected]

JAN-LUUK HILLEBRANDS STEPHEN T. HOLGATE Department of Cell Biology, Immunology Section Southampton General Hospital University Medical Center Groningen University of Southampton Groningen Southampton The Netherlands UK [email protected] [email protected]

STEVEN HOLLAND HELMUT HINTNER NIH Clinical Center Department of Dermatology Bethesda, MA Paracelsus Private Medical University Salzburg USA Austria ARE MARTIN HOLM [email protected] Section of Clinical Immunology and Infectious Diseases Medical Department SHIRLEY HODGSON Rikshospitalet University Hospital Department of Cancer Genetics Oslo ’ St. George s Hospital Norway University of London [email protected] UMDS London IAN HOLT UK MRC-Dunn Human Nutrition Unit [email protected] Cambridge UK ERIC P. H OFFMAN [email protected] Research Center for Genetic Medicine Children’s National Medical Center FRANK G. HOLZ George Washington University Department of Ophthalmology Washington, DC University of Bonn USA Bonn [email protected] Germany xlii List of Contributors

MARINELLA HOLZHAUSEN CHRISTIAN P. M. H UGO Department of Pharmacology and Therapeutics Department of Nephrology and Hypertension The University of Calgary University Erlangen-Nuremberg Calgary, AB Erlangen Canada Germany [email protected] [email protected]

KAM-LUN ELLIS HON Department of Pediatrics WILGARD HUNGER-DATHE Prince of Wales Hospital Department of Internal Medicine III Hong Kong Special Administrative Region University Hospital Jena People’s Republic of China Jena Germany

AKIRA HONDA NEIL HUNTER Center for Collaborative Research Institute of Dental Research Tokyo Medical University Westmead Millennium Institute and Westmead Centre for Kasumigaura Hospital Oral Health Ibaraki Westmead Hospital Japan Westmead, NSW [email protected] Australia [email protected] TAKAYUKI HONDA Department of Laboratory Medicine Shinshu University School of Medicine PETER HUPPKE Matsumoto Department of Pediatric Neurology Japan Georg-August University [email protected] Goettingen Germany [email protected] BERND HOPPE University Children’s Hospital University of Cologne KHALID HUSSAIN Cologne Great Ormond Street Children’s Hospital NHS Trust and the Germany Institute of Child Health [email protected] Unit of BEM University College SEVAN HOPYAN London Hospital for Sick Children, Division of Orthopedics and UK Program in Developmental and Stem Cell Biology [email protected] University of Toronto Toronto, ON Canada MARY REDMOND HUTSON [email protected] Department of Pediatrics, NPRI Duke University JULIA HORN Durham, NC Division of Rheumatology and Clinical Immunology USA University Hospital Freiburg [email protected] Freiburg Germany [email protected] JAMES HYLAND Department of Pathology Center for Gene Therapy JASON H. HUANG Tulane University Health Sciences Center Department of Neurosurgery New Orleans, LA University of Pennsylvania USA Philadelphia, PA [email protected] USA [email protected] MOFID IBRAHEIM TING-TING HUANG Department of Obstetrics and Gynecology Department of Pediatrics Basildon University Hospital University of California Basildon San Francisco, CA UK USA [email protected] List of Contributors xliii

OMAR A. IBRAHIMI GIRIS JACOB Department of Dermatology Recanati Autonomic Dysfunction Center Harvard Medical School Rambam Medical Center Boston, MA Haifa Israel and the Autonomic Dysfunction Center USA Vanderbilt University [email protected] Nashville, TN USA HIROSHI ICHINOSE Department of Life Science NICHOLAS A. JACQUES Graduate School of Bioscience and Biotechnology Institute of Dental Research Tokyo Institute of Technology Westmead Millennium Institute and Westmead Centre for Yokohama Oral Health Japan Westmead Hospital [email protected] Westmead, NSW Australia AMAJ IKOMI [email protected] Department of Obstetrics and Gynaecology Basildon University Hospital JAAK JAEKEN Basildon Department of Pediatrics UK Center for Metabolic Disease University of Leuven MASSIMO IMAZIO Leuven Cardiology Department Belgium Maria Vittoria Hospital [email protected] Turin Italy MARKUS JÄGER [email protected] Department of Psychiatry II University of Ulm KEI INAI Guenzburg Department of Pediatric Cardiology Germany Tokyo Women`s Medical Univesity Tokyo MICHAELA JAKSCH Japan Freiburg Medical Laboratory [email protected] Middle East LLC Dubai ADIBA ISA UAE Department of Clinical Immunology [email protected] Center for Stem Cell Treatment Odense University Hospital HANNU JALANKO University of Southern Denmark Hospital for Children and Adolescents Odense University of Helsinki Denmark Helsinki [email protected] Finland [email protected] WULF ITO Heartcenter, Cardiology ANDREAS JANECKE University Hospital Hamburg-Eppendorf Division of Clinical Genetics Hamburg Innsbruck Medical University Germany Innsbruck Austria EIJI ITOI [email protected] Department of Orthopedic Surgery Tohoku University School of Medicine PETER L. M. JANSEN Sendai Department of Gastroenterology and Hepatology Japan Academic Medical Center [email protected] Amsterdam The Netherlands SUDHA K. IYENGAR [email protected] Epidemiology and Biostatistics Ophthalmology and Genetics KATRIEN JANSSENS Case Western Reserve University Department of Medical Genetics Cleveland, OH University of Antwerp USA Antwerp [email protected] Belgium xliv List of Contributors

MICHAEL A. JANTZ HYDER A. JINNAH Division of Pulmonary and Critical Care Medicine Johns Hopkins University Medical School University of Florida Baltimore, MD Gainesville, FL USA USA [email protected] [email protected]

MARTIN T. JOHN JEAN-MICHEL ROZET St. Vincent’s Institute of Medical Research Unité de Recherches Génétique et Epigénétique des Maladies Melbourne, VIC Métaboliques, Neurosensorielles et du Développement Australia INSERM [email protected] Hôpital des Enfants Malades Paris France COLIN A. JOHNSON [email protected] Section of Ophthalmology and Neurosciences Leeds Institute of Molecular Medicine St James’s University Hospital WILLIAM JEFFCOATE Leeds Foot Ulcer Trials Unit UK Department of Diabetes and Endocrinology [email protected] City Hospital Nottingham UK GRAEME JONES [email protected] Musculoskeletal Unit Menzies Research Institute Hobart, TAS VIVEKANAND JHA Australia Department of Nephrology [email protected] Postgraduate Institute of Medical Education and Research Chandigarh India FRANÇOIS JOURET [email protected] Division of Nephrology Université Catholique de Louvain Brussels RUI-CHENG JI Belgium Department of Anatomy, Biology and Medicine [email protected] Oita University Oita Japan KARIN JURKAT-ROTT [email protected] Department of Applied Physiology Ulm University Ulm QIUJIE JIANG Germany Department of Dermatology and Cutaneous Biology [email protected] Jefferson Medical Collage Philadelphia, PA USA PRADEEP V. K ADAMBI [email protected] Section of Nephrology University of Chicago Chicago, IL SERGIO A. JIMENEZ USA Jefferson Institute of Molecular Medicine and Division of Connective Tissue Diseases Department of Dermatology and Cutaneous Biology JENS J. KADEN Thomas Jefferson University 1st Department of Medicine Philadelphia, PA Faculty of Clinical Medicine USA University of Heidelberg at Mannheim [email protected] Mannheim Germany [email protected] LING JING Institute of Endemic Diseases College of Medical Sciences RICHARD J. KAHNOSKI Jilin University Department of Urology Changchun Spectrum Health P.R. China Grand Rapids, MI [email protected] USA List of Contributors xlv

ZBIGNIEW KALARUS CHAM PION KAO First Department of Cardiology Department of Pediatrics Silesian Medical School Alberta Children’s Hospital Silesian Center for Heart Disease The University of Calgary Zabrze Calgary, AB Poland Canada [email protected]

BRUCE KAPLAN JONATHAN M. KALMAN University of Illinois at Chicago Transplant Center Department of Cardiology Chicago, IL Royal Melbourne Hospital USA University of Melbourne [email protected] Melbourne, VIC Australia HENRY J. KAPLAN Department of Ophthalmology and Visual Sciences DEEPAK KAMAT University of Louisville Carman and Ann Adams Department of Pediatrics Louisville, KY Institute of Medical Education USA Children’s Hospital of Michigan [email protected] Detroit, MI USA JOSSELINE KAPLAN [email protected] Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement HIDETO KAMEDA INSERM Division of Rheumatology/Clinical Immunology Hôpital des Enfants Malades Department of Internal Medicine Paris Saitama Medical Center France Saitama Medical University Saitama KEVIN KAPLAN Japan NYU Hospital for Joint Diseases [email protected] New York, NY USA NADA KANAAN Departments of Nephrology and Radiology TAKATOSHI KASAI Cliniques Universitaires Saint-Luc Department of Cardiology Brussels Juntendo University, School of Medicine Belgium Tokyo [email protected] Japan [email protected]

HO SUNG KANG Department of Molecular Biology CLIFFORD E. KASHTAN College of Natural Sciences Department of Pediatrics Pusan National University University of Minnesota Medical School Pusan Minneapolis, MN Korea USA [email protected] [email protected]

Y. J AMES KANG SURENDER KASHYAP Departments of Medicine, Pharmacology and Toxicology Department of Pulmonary Medicine University of Louisville School of Medicine Indira Gandhi Medical College Louisville, KY Shimla USA India [email protected] [email protected]

BHARAT K. KANTHARIA JAN KASSUBEK Division of Cardiac Electrophysiology Department of Neurology The University of Texas Health Science Center University of Ulm Houston, TX Ulm USA Germany [email protected] [email protected] xlvi List of Contributors

HIDEKI KATO JUTTA KELLER Division of Nephrology and Endocrinology Medical Department, Israelitic Hospital University of Tokyo School of Medicine Academic Hospital of the University of Hamburg Tokyo Hamburg Japan Germany [email protected] [email protected]

SHOICHI KATSURAGI NANCY R. KELLER National Kikuchi Hospital Autonomic Dysfunction Center Kumamoto Vanderbilt University Japan Nashville, TN [email protected] USA [email protected] DIETER KAUFMANN Department of Human Genetics ANDREA KELLY University of Ulm Division of Endocrinology Ulm Children’s Hospital of Philadelphia Germany University of Pennsylvania School of Medicine [email protected] Philadelphia, PA USA RAILI KAUPPINEN [email protected] Porphyria Research Centre Biomedicum-Helsinki WERNER KEMPF University of Helsinki Department of Dermatology Helsinki University Hospital Zurich Finland Zurich [email protected] Switzerland [email protected] UNER KAYABAS Department of Infectious Diseases STEPHAN DISEAN KENDALL Faculty of Medicine Medicine, Pharmacology and Cancer Biology Inonu University Duke University Malatya Durham, NC Turkey USA [email protected] MICHAEL P. K EANE Department of Medicine NIR KFIR University of Virginia School of Medicine Tel Hai College Charlottesville, VA School of Bio-Technology USA Upper Galilee Israel REJIN KEBUDI [email protected] Division of Pediatric Hematology-Oncology Oncology Institute MOHAMMAD KHALID Istanbul University Pulmonary Section, Department of Medicine Istanbul King Faisal Specialist Hospital and Research Center Turkey Riyadh [email protected] Saudi Arabia

JAMES C. KEITH,JR. MARKUS KHALIL Wyeth Research Department of Pediatric Cardiology Discovery Translational Medicine University Hospital of Heidelberg Collegeville, PA Heidelberg USA Germany [email protected] [email protected]

ELIZABETH M. KEITHLEY STEFAN KIECHL Department of Otolaryngology, Head and Neck Surgery Department of Neurology University of California, San Diego School of Medicine University Clinic Innsbruck La Jolla, CA Innsbruck USA Austria [email protected] [email protected] List of Contributors xlvii

KIRSTY KIEZEBRINK THOMAS KLOCKGETHER University of Abertay Department of Neurology Dundee University Hospital Bonn UK Bonn [email protected] Germany [email protected] STEFAN KINS ZMBH THOMAS KLOPSTOCK University of Heidelberg Department of Neurology Heidelberg Friedrich-Baur-Institute and Ludwig-Maximilians- Germany University Munich [email protected] Munich Germany [email protected] MARGARET L. KIRBY Department of Pediatrics, NPRI JOCHEN KLUCKEN Duke University Department of Neurology Durham, NC University of Regensburg USA Regensburg [email protected] Germany [email protected] GUDULA KIRTSCHIG Department of Dermatology URSULA KNIRSCH VU Medical Centre ALS-Clinic Amsterdam Kantonsspital St. Gallen The Netherlands St. Gallen [email protected] Switzerland [email protected] JÖRG KLEEFF Department of General Surgery WOLFRAM TRUDO KNOEFEL University of Heidelberg Department of General-, Visceral- and Pediatric Surgery Heidelberg University Hospital Duesseldorf Germany Heinrich-Heine-University [email protected] Duesseldorf Germany CHRISTINE KLEIN [email protected] Department of Neurology University of Luebeck RALPH KNÖLL Luebeck Cardiovascular Molecular Genetics Germany Georg-August-University Goettingen [email protected] Goettingen Germany [email protected] PETER KLEIN Department of Surgery THOMAS KNOLL University of Erlangen-Nuremberg Department of Urology Erlangen Mannheim University Hospital Germany Mannheim [email protected] Germany [email protected] PHILIP J. KLEMMER Division of Nephrology and Hypertension MARKUS KNUF University of North Carolina School of Medicine Pediatric University Hospital Chapel Hill, NC Johannes-Gutenberg University USA Mainz [email protected] Germany

STEFAN KÖLKER ALAN P. K NUTSEN Department of General Pediatrics, Division of Inborn Division of Allergy/Immunology Metabolic Diseases Department of Pediatrics University Children’s Hospital Saint Louis University Health Sciences Center Heidelberg St. Louis, MO Germany USA [email protected] [email protected] xlviii List of Contributors

CHRISTIAN A. KOCH GEORG KOJDA Division of Endocrinology Institute for Pharmacology and Clinical Pharmacology University of Mississippi Medical Center University Clinic Duesseldorf Jackson, MS Duesseldorf USA Germany [email protected] ZDENEK KOLAR NORMAN KOCK Department of Pathology and Laboratory of Molecular Department of Neurology Pathology University of Luebeck Palacky University Luebeck Olomouc Germany Czech Republic [email protected] [email protected]

RICHARD KOCH GENOVEFA D. KOLOVOU Department of Genetics First Cardiology Department Children’s Hospital Los Angeles Onassis Cardiac Surgery Center Los Angeles, CA Athens USA Greece [email protected] [email protected]

THOMAS KOLTER MICHAEL KOENEN MPI for Medical Research LIMES Program Unit Membrane Biology & Lipid Heidelberg Biochemistry Germany Kekulé-Institute [email protected] University Bonn Bonn Germany SUSANNE KOHL Molecular Genetics Laboratory TATSURO KONDOH Institute for Ophthalmic Research Department of Pediatrics Center for Ophthalmology Nagasaki University School of Medicine University of Tuebingen Nagasaki Tuebingen Japan Germany [email protected] [email protected]

BRUCE C. KONE JÜRGEN KOHLHASE Departments of Internal Medicine and Integrative Biology, Center for Human Genetics Pharmacology and Physiology Freiburg The University of Texas Medical School at Houston Germany Houston, TX [email protected] USA [email protected] RÜDIGER KÖHLING Institute of Physiology YRJÖ KONTTINEN University of Rostock Department of Medicine Rostock Biomedicum, University of Helsinki Germany Helsinki [email protected] Finland [email protected] ALFRIED KOHLSCHÜTTER Department of Pediatrics JÜRGEN KOPITZ University Medical Center Hamburg-Eppendorf Institute of Pathology Hamburg University of Heidelberg Germany Heidelberg [email protected] Germany

JOSEF KÖHRLE PETER KOPP EnForCé Feinberg School of Medicine Charité University Hospital Northwestern University Berlin Chicago, IL Germany USA List of Contributors xlix

CENGIZ KORKMAZ ABHIJIT V. K SHIRSAGAR Department of Internal Medicine Division of Nephrology and Hypertension Eskisehir Osmangazi University University of North Carolina School of Medicine Eskisehir Chapel Hill, NC Turkey USA [email protected] [email protected]

JOHANNES KORNHUBER RALF KUBITZ Department of Psychiatry and Psychotherapy Clinic for Gastroenterology, Hepatology and Infectiology University of Erlangen Medical School Heinrich-Heine-University Erlangen Duesseldorf Germany Germany [email protected] [email protected]

YU RU KOU KAROLINA KUBLICKIENE Department of Physiology, School of Medicine Department of Obstetrics and Gynecology National Yang-Ming University Karolinska University Hospital Taipei Stockholm Taiwan Sweden [email protected]

OSKAR KOWALSKI RENATA KUCEROVA First Department of Cardiology Department of Dermatovenerology Silesian Medical School Palacky University and University Hospital Silesian Center for Heart Disease Olomouc Zabrze Czech Republic Poland [email protected]

ZAKI KRAIEM WOLFGANG KÜHN Faculty of Medicine Department of Nephrology Technion University Medical Center Freiburg Haifa Freiburg Israel Germany [email protected] SABINE KRAUSE Friedrich-Baur-Institute and Department of Neurology RAJIV KUMAR Ludwig-Maximilians-University Department of Internal Medicine Munich Mayo Clinic and Foundation Germany Rochester, MN [email protected] USA [email protected] MARIA-T. KRAUTH Division of Hematology and Hemostaseology RAKESH KUMAR Department of Internal Medicine I Department of Surgery Medical University Vienna All India Institute of Medical Sciences Vienna New Delhi Austria India [email protected]

THOMAS KRIEG KARL KUNZELMANN Department of Dermatology Department of Physiology University Cologne University of Regensburg Cologne Regensburg Germany Germany [email protected] [email protected]

GABRIELE A. KROMBACH SUSAN KUPKA Department of Diagnostic Radiology Department of General, Visceral and Transplant Surgery University Hospital University Hospital of Tuebingen Aachen Tuebingen Germany Germany [email protected] [email protected] l List of Contributors

SHIGEO KURE BENOÎT LAMARCHE Department of Medical Genetics Institute on Nutraceuticals and Functional Foods Tohoku University School of Medicine Laval University Sendai Québec, QC Japan Canada [email protected] GERHARD KURLEMANN University of Muenster FRANK LAMMERT Children’s Hospital Department of Internal Medicine I Muenster University Hospital Bonn Germany Bonn [email protected] Germany [email protected]

NAOTO KURODA Department of Pathology and Clinical Laboratory VALÉRIA LAMOUNIER-ZEPTER Kochi Red Cross Hospital Medical Clinic III Kochi University of Dresden Japan Dresden [email protected] Germany [email protected]

SIM KUTLAY Department of Nephrology ANNE KATRIN LAMPE Ankara University School of Medicine South East of Scotland Clinical Genetic Service Ankara Western General Hospital Turkey Edinburgh UK [email protected] SHARON LA FONTAINE Centre for Cellular and Molecular Biology KATJA LAMPINEN School of Life and Environmental Sciences Department of Obstetrics and Gynecology Deakin University Karolinska University Hospital Burwood, VIC Stockholm Australia Sweden [email protected] [email protected]

CARLO A. LACKERBAUER RISTO KAAJA Eye Clinic Department of Obstetrics and Gynecology Ludwig-Maximilians-University Munich Helsinki University Hospital Munich Helsinki Germany Finland [email protected] KAR NENG LAI Department of Medicine RADOSŁAW LENARCZYK The University of Hong Kong First Department of Cardiology Hong Kong Silesian Medical School China Silesian Center for Heart Disease [email protected] Zabrze Poland NIGEL G. LAING [email protected] Molecular Neurogenetics Lab University of Western Australia DANIEL LANDAU Centre for Medical Research Department of Pediatrics Queen Elizabeth II Medical Centre Soroka University Medical Center Nedlands, WA Beer Sheva Australia Israel [email protected] [email protected]

SEEMA R. LALANI G. BERNHARD LANDWEHRMEYER Department of Molecular and Human Genetics Department of Neurology Baylor College of Medicine Ulm University Houston, TX Ulm USA Germany [email protected] [email protected] List of Contributors li

FLORIAN LANG LARRY LATSON Department of Physiology Department of Pediatric Cardiology University of Tuebingen Cleveland Clinic Foundation Tuebingen Cleveland, OH Germany USA [email protected] [email protected]

GABRIELE E. LANG ELANA LAV IN E University Eye Hospital Ulm Division of Immunology and Allergy Ulm The Hospital for Sick Children Germany Toronto, ON [email protected] Canada

KARL S. LANG YVES LE LOIR Ontario Cancer Institute Laboratoire de Microbiologie University Health Network UMR STLO, INRA Toronto, ON Rennes Canada France [email protected]

UNDINE E. LANG Department of Psychiatry and Psychotherapy MARTINE LE MERRER Charité University Medicine Berlin Département de Génétique Berlin INSERM Germany Hôpital Necker Enfants-Malades [email protected] Paris France [email protected] LIDIA LARIZZA Division of Medical Genetics San Paolo School of Medicine ALEXANDER LEAF University of Milan Harvard Medical School Milan Charlestown, MA Italy USA [email protected] [email protected]

A. J. LARNER LINDA LEATHERBURY Cognitive Function Clinic Children’s National Medical Center Walton Centre for Neurology and Neurosurgery CGMR Liverpool Washington, DC UK USA [email protected]

MAXIMILIAN LEDOCHOWSKI ZVI LARON Department of Nutritional Medicine Schneider Children’s Medical Center Medical University of Innsbruck Petah Tikva/Tel Aviv Innsbruck Israel Austria [email protected] [email protected]

HENRIK LARSSON CHAEYOUNG LEE Department of Medical Epidemiology and Biostatistics Ilsong Institute of Life Science Karolinska Institutet Hallym University Stockholm Anyang Sweden South Korea [email protected] [email protected]

SYLVAIN LATOUR JYH-YEUAN LEE INSERM Department of Cell Biology and Biochemistry Hôpital Necker Texas Tech University Health Sciences Center Paris Lubbock, TX France USA [email protected] [email protected] lii List of Contributors

RICHARD S. LEGRO DEREK LEROITH Department of Obstetrics and Gynecology Division of Endocrinology, College of Medicine Diabetes and Bone Diseases Pennsylvania State University Mount Sinai School of Medicine Hershey, PA New York, NY USA USA [email protected] [email protected]

ANNA-ELINA LEHESJOKI MARGHERITA LERONE Folkhälsan Institute of Genetics and Neuroscience Center Laboratory of Molecular Genetics University of Helsinki G. Gaslini Institute, Department of Pediatrics Helsinki University of Genova Finland Genova [email protected] Italy

FRANK LEHMANN-HORN KLAUS-PETER LESCH Department of Applied Physiology Molecular and Clinical Psychobiology Ulm University Department of Psychiatry and Psychotherapy Ulm University of Wuerzburg Germany Wuerzburg [email protected] Germany [email protected]

MICHAEL J. LENARDO Molecular Development Section ALEXANDER A. C. LEUNG Laboratory of Immunology Department of Medicine NIAID, NIH The University of Alberta Bethesda, MD Edmonton, AB USA Canada [email protected] [email protected]

ALEXANDER K. C. LEUNG JAMES V. L EONARD Department of Pediatrics Clinical and Molecular Genetics Unit Alberta Children’s Hospital Institute of Child Health The University of Calgary University College London Calgary, AB London Canada UK [email protected] [email protected]

KLAUS LEY NORMA LEONARD Robert M. Berne Cardiovascular Research Center and Department of Medical Genetics Departments of Biomedical Engineering, Molecular ’ Stollery Children s Hospital Physiology and Biological Physics University of Alberta University of Virginia Edmonton, AB Charlottesville, VA Canada USA [email protected]

PHILIPP M. LEPPER Department of Intensive Care Medicine CHRISTINE LIANG Inselspital Department of Dermatology University of Bern New York University School of Medicine Bern New York, NY Switzerland USA

HOLGER LERCHE CHANGHONG LI Departmemts of Neurology and Applied Physiology Division of Endocrinology, Children’s Hospital of University of Ulm Philadelphia Ulm University of Pennsylvania School of Medicine Germany Philadelphia, PA [email protected] USA List of Contributors liii

GUANG-SHENG LI MALIN LINDSTEDT Institute of Endemic Diseases Department of Immunotechnology Norman Bethune College of Medical Sciences Lund University Jilin University Lund Changchun Sweden P.R. China [email protected] [email protected]

JIANG LI DANIEL C. LINK Medical Clinic III Division of Oncology Medical Faculty Carl Gustav Carus Department of Medicine Technical University Dresden Washington University Dresden St. Louis, MO Germany USA [email protected] CHRISTOPH LICHT Department of Nephrology DANAE LIOLITSA The Hospital for Sick Children Centre for Neuromuscular Disease and Department of Toronto, ONT Molecular Neuroscience Canada Institute of Neurology [email protected] University College London London VOLKER LIEBE UK 1st Department of Medicine Faculty of Clinical Medicine Mannheim University of Heidelberg GREGORY Y. H. L IP Heidelberg Hemostasis, Thrombosis and Vascular Biology Unit Germany University Department of Medicine, City Hospital [email protected] Birmingham UK KATRINA LIGHT [email protected] Department of Psychological Medicine Christchurch School of Medicine and Health Sciences University of Otago MARITA LIPSANEN-NYMAN Christchurch The Hospital for Children and Adolescents New Zealand University of Helsinki [email protected] Helsinki Finland RICHARD W. LIGHT [email protected] Division of Allergy, Pulmonary, and Critical Care Medicine Vanderbilt University Nashville, TN WALTER LISCH USA Department of Ophthalmology [email protected] Klinikum Hanau Hanau Germany XIAOBO LIN Washington University in St. Louis [email protected] School of Medicine St. Louis, MI JIRI LITZMAN USA Department of Clinical Immunology and Allergology Masaryk University YOU SHUEI LIN St. Anne’s University Hospital Department of Physiology Brno Taipei Medical University Czech Republic Taipei [email protected] Taiwan [email protected] CECILIA LO KATRIN S. LINDENBERG Laboratory of Developmental Biology Department of Neurology National Heart Lung Blood Institute Ulm University National Institutes of Health Ulm Bethesda, MD Germany USA [email protected] [email protected] liv List of Contributors

BRIGITTE M. LOBNIG DU TOIT LOOTS Department of Endocrinology, Diabetology and Department of Nutrition School of Physiology, Nutrition and Rheumatology Consumers Science University of Duesseldorf North-West University Duesseldorf Potchefstroom Germany South Africa [email protected] [email protected]

ISCIA LOPES-CENDES HANNS LOCHMÜLLER Institute of Human Genetics Department of Medical Genetics Newcastle University University of Campinas - UNICAMP International Centre for Life Campinas, SP Newcastle upon Tyne Brazil UK [email protected] [email protected] FRANCISCO J. LÓPEZ-SORIANO Departament de Bioquímica i Biologia Molecular JOHN LOGAN Universitat de Barcelona Belfast City Hospital Barcelona Belfast Spain UK [email protected] CARMEN LOQUAI Department of Dermatology, Allergology and Venerology KATJA LOHMANN University of Duisburg-Essen Department of Neurology Essen University of Luebeck Germany Luebeck [email protected] Germany AXEL LORENTZ Nutritional Medicine and Prevention DIETMAR LOHMANN University of Hohenheim Department of Human Genetics Stuttgart University Duisburg-Essen Germany Essen [email protected] Germany [email protected] BIRGIT LORENZ Department of Pediatric Ophthalmology, Strabismology and DAV ID A. LOMAS Ophthalmogenetics Department of Medicine University of Regensburg Medical Centre University of Cambridge Regensburg Cambridge Institute for Medical Research Germany Cambridge [email protected] UK [email protected] RICHARD LORENZ Department of Internal Medicine MIRANDA LOMER Ulm University Department of Gastroenterology Ulm Guy’s & St Thomas’s NHS Foundation Trust Germany London [email protected] UK JOHANN LORENZEN Institute of Pathology NICOLA LONGO Clinic of Dortmund gGmbH Medical Genetics/Pediatrics Dortmund University of Utah Germany Salt Lake City, UT USA ELAN D. LOUIS [email protected] Department of Neurology Gertrude H. Sergievsky Center ANDREA LO MONACO College of Physicians and Surgeons Sezione di Reumatologia Columbia University Università di Ferrara New York, NY Ferrara USA Italy [email protected] List of Contributors lv

JULIA LÜBLIGHOFF MALCOLM A. LYONS III. Medical Department Gastroenterology Division University of Leipzig Harvard Medical School Leipzig Brigham and Women’s Hospital Germany Boston, MA USA

THOMAS LÜCKE LUCIA K. MA Department of Pediatrics Heart Health Institute and Department of Cardiac Science Hannover Medical School The University of Calgary Hannover Calgary, AB Germany Canada [email protected] MICHAEL L. H. MA Trinity College MICHAELA LUCONI Dublin Department of Clinical Physiopathology Ireland University of Florence Florence PATRICK T. S. MA Italy Heart Health Institute and Department of Cardiac Science [email protected] The University of Calgary Calgary, AB ALBERT C. LUDOLPH Canada Department of Neurology [email protected] University of Ulm Ulm SIOBHAN D. MA Germany Royal College of Surgeons [email protected] Dublin Ireland

AMEI LUDWIG NAIM M. MAALOUF Institute for Virology Center for Mineral Metabolism and Clinical Research Heinrich-Heine-University University of Texas Southwestern Medical Center Duesseldorf Dallas, TX Germany USA [email protected] [email protected]

SUSANNA MAC THOMAS A. LUGER Department of Chemistry and Biochemistry Department of Dermatology University of California University Hospital of Muenster San Diego, CA Muenster USA Germany [email protected]

JOHN F. MACGREGOR KATARZYNA LUKASIUK Division of Cardiology The Nencki Institute of Experimental Biology University of Utah Polish Academy of Sciences Salt Lake City, UT Warsaw USA Poland [email protected] [email protected]

JESUS MACHADO-SALAS JOËL LUNARDI Comprehensive Epilepsy Program, Epilepsy Genetics/ Laboratoire de Biochimie et Génétique Moléculaire Genomics Laboratories and Epilepsy Center of Excellence CHU Grenoble UCLA School of Medicine and VA GLAHS Grenoble Los Angeles, CA France USA

COLIN R. MACKENZIE TORD M. LUNDGREN Institute of Medical Microbiology and Hospital Hygiene Department of Periodontics University Clinic Duesseldorf Loma Linda University Heinrich-Heine-University Loma Linda, CA Duesseldorf USA Germany [email protected] [email protected] lvi List of Contributors

JAMIE MAGUIRE NIRMAL S. MANN Departments of Neurology and Physiology School of Medicine The University of California University of California Los Angeles, CA Sacramento, CA USA USA [email protected] VIKRAM K. MAHAJAN Department of Dermatology, BRIAN C. MANSFIELD Venereology & Leprosy Correlogic Systems, Inc. Indira Gandhi Medical College Rockville, MD Shimla USA India [email protected] MASSIMO MANTEGAZZA HEIMO MAIRBÄURL Deparment of Neurophysiopathology Department of Internal Medicine VII Istituto Neurologico Besta Division of Sports Medicine Milan Medical University Clinic Italy Heidelberg [email protected] Germany [email protected] MARINA MARCHETTI Laboratory for Clinical Thrombosis and Hemostasis STEPHEN N. MAKONI Department of Internal Medicine Trinity Cancer Care Maastricht University Minot, ND Maastricht USA The Netherlands [email protected]

CARLOTTA MALAGOLI BATSHEVA MARCOS Department of Public Health Sciences The Dermatology Unit University of Modena and Reggio Emilia Kaplan Medical Center Modena Rechovot Italy Israel

MARCUS MALL ANTHONY M. MARINAKI Department of Pediatric Oncology, Hematology, Purine Research Laboratory Immunology and Pulmonology St. Thomas Hospital University of Heidelberg London Heidelberg UK Germany [email protected] [email protected]

MARIO MANCINI MARK A. MARINELLA Andrology Unit, San Paolo Hospital Department of Internal Medicine University of Milan Wright State University School of Medicine Milan Dayton, OH Italy USA [email protected] [email protected]

ROBERTO MANFREDI CARLA MARINI Infectious Diseases Pediatric Neurology and Neurogenetics Unit and “Alma Mater Studiorum” University of Bologna Laboratories Children’s Hospital A. Meyer S. Orsola Hospital Florence Bologna Italy Italy [email protected] [email protected]

HENRY J. MANKIN FRANCESCA MARINI Department of Orthopedic Surgery Regional Center for Hereditary Endocrine Tumours Massachusetts General Hospital Department of Internal Medicine Boston, MA University of Florence USA Florence [email protected] Italy List of Contributors lvii

BRUNO MARINO WINFRIED MÄRZ Pediatric Cardiology, Department of Pediatrics Synlab Center of Laboratory Diagnostics University La Sapienza Heidelberg Rome Germany Italy [email protected] [email protected]

FRANK MASTAGLIA ARIE MARKEL Centre for Neuromuscular and Neurological Disorders Department of Internal Medicine A University of Western Australia, QEII Medical Centre Haemek Medical Center Nedlands, WA Afula Australia Israel [email protected] VERENA MATEJAS DANIEL MARKOVICH Institute of Human Genetics School of Biomedical Sciences University of Erlangen-Nuremberg University of Queensland Erlangen Brisbane, QLD Germany Australia [email protected] SISHIR MATHUR Liver Billary Pancreatic Center MARCO A. MARRA University of Connecticut Health Center Genome Sciences Centre Farmington, CT BC Cancer Agency USA Vancouver, BC [email protected] Canada [email protected] YOICHI MATSUBARA Departments of Pediatrics and Medical Genetics WALLACE F. MARSHALL Tohoku University School of Medicine Department of Biochemistry & Biophysics Sendai University of California Japan San Francisco, CA [email protected] USA [email protected] NAOMICHI MATSUMOTO DIANNA C. MARTIN Department of Human Genetics Department of Biochemistry and Medical Genetics Yokohama City Graduate School of Medicine University of Manitoba Yokohama Winnipeg, MB Japan Canada [email protected] [email protected]

SHIRO MATSUMOTO F. ELIZABETH MARTIN Department of Pediatrics Faculty of Dentistry Kumamoto University Graduate School of Medical Science The University of Sydney Kumamoto Sydney, NSW Japan Australia [email protected] NILANJANA MAULIK Molecular Cardiology and Angiogenesis Laboratory IRIS E. MARTINEZ-JUAREZ Comprehensive Epilepsy Program, Epilepsy Genetics/ Department of Surgery Genomics Laboratories and Epilepsy Center of Excellence University of Connecticut Health Center UCLA School of Medicine and VA GLAHS Farmington, CT Los Angeles, CA USA USA [email protected]

TOMMY MARTINSSON KIRK J. MAURER Department of Clinical Gastroenterology Division Sahlgrenska University Hospital Harvard Medical School Göteborg Brigham and Women’s Hospital Sweden Boston, MA [email protected] USA lviii List of Contributors

MARIA ANTONIETTA MAZZEI IAIN B. MCINNES Department of Radiology Division of Immunology, Infection and Inflammation University of Siena Glasgow Biomedical Research Centre Siena University of Glasgow Italy Glasgow [email protected] UK [email protected]

FREDDY MBOTI WILLIAM J. MCKENNA Medico-Surgical Department of Gastroenterology Inherited Cardiovascular Disease Group ULB-Erasme Hospital The Heart Hospital, University College London Hospitals, Brussels NHS Trust and Institute of Cardiovascular Science Belgium University College London [email protected] London UK

TOMMIE V. M CCARTHY VALLERIE V. M CLAUGHLIN Department of Biochemistry Pulmonary Hypertension Program University College Cork University of Michigan Health System Cork Ann Arbor, MI Ireland USA [email protected]

TIM MCQUINN F. DENNIS MCCOOL Department of Cell Biology and Anatomy Pulmonary Critical Care Medicine Cardiovascular Developmental Biology Center Memorial Hospital of Rhode Island Medical University of South Carolina Pawtucket, RI Charleston, SC USA USA [email protected] [email protected]

MOSAAD MEGAHED M. ELIZABETH MCCREADY Clinic of Dermatology Ottawa Health Research Institute Heinrich-Heine-University Ottawa, ON Duesseldorf Canada Germany [email protected]

HEATHER E. MCDERMID DAVENDRA MEHTA Department of Biological Sciences Division of Cardiac Electrophysiology and Arrhythmia University of Alberta Service Edmonton, AB Mount Sinai Hospital and School of Medicine Canada New York, NY [email protected] USA [email protected]

RITA L. MCGILL LAXMI S. MEHTA Department of Medicine Division of Cardiology Teine Keijinkai Hospital Department of Internal Medicine Teine, Sapporo The Ohio State University Japan Columbus, OH [email protected] USA [email protected] JOHN A. MCGRATH Genetic Skin Disease Group HANS-MICHAEL MEINCK St John’s Institute of Dermatology Department of Neurology Guy’s Hospital University of Heidelberg London Heidelberg UK Germany [email protected] [email protected]

ROBERT J. MEISLIN BERNADETTE MCGUINNESS NYU Hospital for Joint Diseases Belfast City Hospital New York, NY Belfast USA UK [email protected] List of Contributors lix

EITAN MELAMED DEBORAH P. M ERKE Rabin Medical Center Warren Grant Magnuson Clinical Center and The Eunice Petach Tikwa Kennedy Shriver National Institute of Child Health and Israel Human Development National Institutes of Health Bethesda, MD MARIA MELARAGNO USA Department of Liver Transplantation and Hepatobiliary [email protected] Surgery Royal Free Hospital GEORG MERKER Hampstead, London Clinic of Gastroenterology, Hepatology and Infectiology UK University Duesseldorf [email protected] Duesseldorf Germany [email protected] KIRSTAN K. MELDRUM Department of Pediatric Urology DIETER METZE James Whitcomb Riley Hospital for Children Department of Dermatology Indiana University Medical Center University Hospital of Muenster Indianapolis, IN Muenster USA Germany [email protected] [email protected]

CHRISTOPH MICHALSKI DAMIAN C. MELLES Department of General Surgery Department of Medical Microbiology and Infectious Diseases University of Heidelberg Erasmus University Medical Centre Heidelberg Rotterdam Germany The Netherlands [email protected] VANNA MICHELI Department of Molecular Biology University of Siena ARTHUR MELMS Siena Department of General Neurology Italy and Hertie-Institute for Clinical Brain Research [email protected] University of Tuebingen Tuebingen Germany LODEWYK J. MIENIE [email protected] School of Biochemistry North-West University Potchefstroom South Africa MARTIN MEMPEL Department of Dermatology and Allergology Technische Universitaet Munich ROSSANA MINERI Munich Unit of Molecular Neurogenetics Germany Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders IRCCS Foundation Neurological Institute “C Besta” SULTAN AYOUB MEO Milan Department of Physiology Italy College of Medicine King Khalid University Hospital MASSIMILIANO MIRABELLA King Saud University Department of Neuroscience Riyadh Catholic University Kingdom of Saudi Arabia Rome Italy [email protected] JULIAN F. B. MERCER Centre for Cellular and Molecular Biology EMINE DIBEK MISIRLIOĞLU School of Life and Environmental Sciences Department of Pediatrics Deakin University Kırıkkale University Faculty of Medicine Burwood, VIC Kırıkkale Australia Turkey [email protected] [email protected] lx List of Contributors

ROSALIA MISSERI DONALD M. MOCK Children’s Hospital of New York Department of Biochemistry and Molecular Biology Presbyterian Hospital University of Arkansas for Medical Sciences Weill Cornell Medical College Little Rock, AR New York, NY USA USA [email protected] [email protected] ISTVAN MODY LAURA E. MITCHELL Departments of Neurology and Physiology Institute of Biosciences and Technology The University of California Texas A&M University System Health Science Center Los Angeles, CA Houston, TX USA USA [email protected] [email protected]

JENS MOGENSEN HIROSHI MITSUBUCHI Department of Cardiology Department of Pediatrics Aarhus University Hospital Kumamoto University Graduate School of Medical Science Skejby Kumamoto Denmark Japan [email protected]

YOHEI MIYAGI MOOSA MOHAMMADI Molecular Pathology and Genetics Division Department of Pharmacology Kanagawa Cancer Center Research Institute New York University School of Medicine Yokohama New York, NY Japan USA [email protected] [email protected]

NORIKO MIYAKE NILUFAR MOHEBBI Department of Medicine (Genetics) Institute of Physiology and Zurich Center for Integrative Children’s Hospital Boston and Harvard Medical School Human Physiology Boston, MA University of Zurich USA Zurich Switzerland MAKOTO MIYARA Department of Experimental Pathology Institute for Frontier Medical Sciences SARA MOLE Kyoto University MRC Laboratory for Molecular Cell Biology and Department Kyoto of Pediatrics & Child Health Japan University College London London UK SHUKI MIZUTANI [email protected] Department Pediatrics and Developmental Biology Graduate School of Medicine Tokyo Medical and Dental University NESTOR A. MOLFINO Tokyo Otsuka Maryland Research Institute Japan Rockville, MD [email protected] USA [email protected]

GORDANA MLINARIC-GALINOVIC Department of Virology INGRID MOLL Collaborating Centre WHO for Virology Department of Dermatology, and Venerology Croatian National Institute of Public Health University Hospital Hamburg-Eppendorf Zagreb Hamburg Croatia Germany [email protected] ABDULLAH F. MOBEIREEK Pulmonary Section ANNE M. MOLLOY Department of Medicine Department of Biochemistry King Faisal Specialist Hospital and Research Center Trinity College Dublin Riyadh Dublin Saudi Arabia Ireland [email protected] [email protected] List of Contributors lxi

MARIA JUDIT MOLNAR BERNICE E. MORROW Center for Molecular Neurology Department of Molecular Genetics Department of Neurology, University Albert Einstein College of Medicine Budapest Bronx, NY Hungary USA [email protected] GEERT MORTIER JAN MONCOL Center for Medical Genetics Faculty of Chemical and Food Technology Ghent University Hospital Slovak Technical University Ghent Bratislava Belgium Slovakia [email protected] [email protected] KATHRYN MOSELEY CHEAR MANUEL MONTESINOS-RONGEN University of Michigan Medical School Department of Neuropathology Ann Arbor, MI University of Cologne USA Cologne [email protected] Germany [email protected] S. HARVEY MUDD NIHM/DIRP/LMB TIMOTHY M. MOORE National Institutes of Health Department of Internal Medicine Bethesda, MD University of South Alabama College of Medicine USA Mobile, AL [email protected] USA [email protected] WALTER MUIR Division of Psychiatry NARAIN MOORJANI School of Molecular and Clinical Medicine Department of Cardiothoracic Surgery University of Edinburgh John Radcliffe Hospital Royal Edinburgh Hospital University of Oxford Edinburgh Oxford UK UK [email protected] ROGER MULDER Department of Psychological Medicine DARIUS MORADPOUR Christchurch School of Medicine and Health Sciences Division of Gastroenterology and Hepatology University of Otago Centre Hospitalier Universitaire Vaudois Christchurch Lausanne New Zealand Switzerland NORBERT MÜLLER Hospital for Psychiatry and Psychotherapy HIROMU MORI Ludwig-Maximilians-University Department of Diagnostic and Interventional Radiology Munich Oita University Faculty of Medicine Germany Oita [email protected] Japan

ULRICH MÜLLER MICHAEL L. MORITZ Institute of Human Genetics Division of Nephrology Giessen University Children’s Hospital of Pittsburgh Giessen Pittsburgh, PA Germany USA [email protected] [email protected]

STEVEN MUMM HIROYUKI MORIUCHI Division of Bone and Mineral Diseases Department of Pediatrics Washington University School of Medicine Nagasaki University School of Medicine St. Louis, MO Nagasaki USA Japan [email protected] lxii List of Contributors

EGBERT MUNDT YOJI NAGASHIMA Department of Population Health Department of Molecular Pathology University of Georgia Yokohama City University Graduate School of Medicine Athens, GA Yokohama USA Japan [email protected] [email protected]

MARCO MURA YASUAKI NAKAGAWA Malattie Respiratorie Department of Orthopedic Surgery Policlinico Tor Vergata Faculty of Medicine Rome Kyoto University Italy Kyoto [email protected] Japan [email protected]

FERID MURAD KIMITOSHI NAKAMURA Department of Integrative Biology and Pharmacology Department of Pediatrics The Medical School Kumamoto University Graduate School of Medical Science University Of Texas Health Sciences Center Kumamoto Houston, TX Japan USA [email protected] [email protected]

M. MURAT NAKI PATRICK MURRAY Department of Obstetrics and Gynecology University of Chicago Göztepe Research and Education Hospital Chicago, IL Istanbul USA Turkey [email protected] [email protected]

GIOVANNA MUSCO MALLIKARJUNA NALLEGOWDA Dulbecco Telethon Institute, Biomolecular NMR Laboratory Department of Physical Medicine and Rehabilitation c/o DIBIT S.Raffaele Scientific Institute All India Institute of Medical Sciences Milan New Delhi Italy India [email protected] [email protected]

BENNETT MYERS JAE-HWAN NAM Dent Neurological Institute Laboratory of Viral Immunology Orchard Park, NY Department of Biotechnology USA The Catholic University of Korea [email protected] Bucheon, Gyeonggi Korea [email protected] RIMA NABBOUT Department of Pediatric Neurology THOMAS NAMDAR Hôpital Necker Enfants Malades Department of General, Visceral and Pediatric Surgery Paris University Hospital Duesseldorf France Heinrich-Heine University [email protected] Duesseldorf Germany MANGALA A. NADKARNI [email protected] Institute of Dental Research, Westmead Millennium Institute and Westmead Centre for Oral Health MASAOMI NANGAKU Westmead Hospital Division of Nephrology and Endocrinology Westmead, NSW University of Tokyo School of Medicine Australia Tokyo [email protected] Japan [email protected] MIKI NAGASE Department of Nephrology and Endocrinology CARLO PACE NAPOLEONE University of Tokyo Graduate School of Medicine Pediatric Cardiac Surgery Unit Tokyo S. Orsola-Malpighi Hospital Japan Bologna [email protected] Italy List of Contributors lxiii

DOROTHEE NASHAN CHRISTOPHE NICOT Department of Dermatology Department of Microbiology, Immunology and Molecular University of Freiburg Genetics Freiburg University of Kansas Medical Center Germany Kansas City, KS USA [email protected] SIRAJEDIN NATAH Gastrointestinal Research Group HANS HELMUT NILLER Department of Physiology & Biophysics Institute of Medical Microbiology The University of Calgary University of Regensburg Calgary, AB Regensburg Canada Germany [email protected] INGO NINDL Applied Tumorvirology YESIM NEGIS German Cancer Research Center (DKFZ) Vascular Biology Laboratory Heidelberg JM USDA-HNRCA Tufts University Boston Germany Boston, MS [email protected] USA

TOSHIO NISHIKIMI Department of Hypertension and Cardiorenal Medicine BERND A. NEUBAUER Dokkyo Medical University Department of Pediatric Neurology Mibu, Tochigi Children’s Medical Center Japan University of Giessen and Marburg [email protected] Giessen Germany KOICHIRO NIWA [email protected] Department of Pediatrics Chiba Cardiovascular Center Chiba JOHN NEWSOM-DAVIS* Weatherall Institute of Molecular Medicine, John Radcliffe Japan Hospital, Department of Clinical Neurology [email protected] University of Oxford Oxford SOHEYL NOACHTAR UK Section of Sleep [email protected] Department of Neurology University of Munich Munich TAM NGUYEN Germany University of Duesseldorf [email protected] Duesseldorf Germany DONATUS NOHR [email protected] Department of Biological Chemistry and Nutrition University Hohenheim Stuttgart SOPHIE NICOLE Germany Inserm [email protected] Université Pierre et Marie Curie UMR CHARLES R. NOLAN Paris Department of Medicine & Surgery France University of Texas Health Sciences Center [email protected] San Antonio, TX USA [email protected] FRANCK E. NICOLINI Hematology Depatment JOHANNES C. NOSSENT Edouard Herriot Hospital Department of Rheumatology Lyon Institute Clinical Medicine France University of Tromsø and University Hospital North Norway [email protected] Tromsø Norway * deceased [email protected] lxiv List of Contributors

MARKUS M. NÖTHEN FUMITO OKADA Department of Genomics, Life and Brain Center Department of Diagnostic and Interventional Radiology University of Bonn Oita University Faculty of Medicine Bonn Oita Germany Japan [email protected] [email protected]

CARLO NUNES LAJOS OKOLICSANYI Department of Gastroenterology Gastroenterology Unit, Liver Transplantation Unit Guy’s & St Thomas’s NHS Foundation Trust Department of Surgical and Gastroenterological Sciences London University Hospital of Padua UK Padua Italy JEAN-MARC NUOFFER Institute of Clinical Chemistry Inselspital ANDERS OLDFORS Bern University Hospital and University of Bern Department of Pathology Bern Sahlgrenska University Hospital Switzerland Göteborg [email protected] Sweden [email protected] WILLIAM L. NYHAN Department of Pediatrics ALEXANDER OLIVARES-REYES University of California at San Diego Guerriari Heart & Cardiovascular Institute La Jolla, CA Penisula Regional Medical Center USA Salisbury, MD [email protected] USA [email protected] ABRAHAM NYSKA Sackler School of Medicine Tel Aviv University DARIO OLIVIERI Tel Aviv Department of Clinical Sciences Israel Respiratory Disease Section [email protected] University of Parma Parma JOHANN OCKENGA Italy Department of Gastroenterology, Hepatology and Endocrinology BOB OLSSON Charité University Hospital Hematology Section, Department of Internal Medicine Berlin Sahlgrenska University Hospital Germany Gothenburg [email protected] Sweden [email protected] MARK OETTE Clinic for Gastroenterology, Hepatology, and Infectious Diseases ANDO ASAMI ONO University Clinic Duesseldorf Department of Diagnostic and Interventional Radiology Duesseldorf Oita University Faculty of Medicine Germany Oita [email protected] Japan

GOO TAEG OH GUIDO OPPIDO Laboratory of Cardiovascular Genomics Pediatric Cardiac Surgery Unit Ewha Womans University S. Orsola-Malpighi Hospital Bologna Korea Italy [email protected] [email protected]

VINZENZ OJI Department of Dermatology JORDAN S. ORANGE University Hospital of Muenster Children’s Hospital of Philadelphia Muenster Philadelphia, PA Germany USA [email protected] [email protected] List of Contributors lxv

EDITH ORION ELENA PARRINI The Dermatology Unit Pediatric Neurology and Neurogenetics Unit and Laboratories Kaplan Medical Center Children’s Hospital A. Meyer Rechovot Florence Israel Italy [email protected]

LEONARD O’SULLIVAN Ergonomics Research Group RALF PASCHKE Manufacturing and Operations Engineering Department Department of Internal Medicine III University of Limerick University of Leipzig Limerick Leipzig Ireland Germany [email protected] [email protected]

CHRISTY T. OSWALT MARZIA PASQUALI Division of Endocrinology Department of Pathology and ARUP Institute for Clinical and University of Mississippi Medical Center Experimental Pathology Jackson, MS Salt Lake City, UT USA USA [email protected] PAUL A. OVERBEEK Department of Molecular and Cellular Biology Baylor College of Medicine MARIA RITA PASSOS-BUENO Houston, TX Human Genome Research Center USA Department of Genetics and Evolutionary Biology [email protected] Institute of Biosciences University of São Paulo São Paulo INGRID PABINGER Brazil Division of Hematology and Hemostaseology [email protected] Department of Internal Medicine I Medical University Vienna Vienna LEV I. PATRUSHEV Austria Department of Biotechnology [email protected] Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry RAS Moscow KAREL PACAK Russia Clinical Neurocardiology Section [email protected] NINDS, National Institutes of Health Bethesda, MD USA DANIEL F. PAULY Department of Medicine, Division of Cardiovascular Medicine GEORGE W. PADBERG Department of Neurology University of Florida Radboud University Nijmegen Medical Centre Gainesville, FL Nijmegen USA The Netherlands [email protected] [email protected] RALF PAUS RODOLFO PAOLETTI Department of Dermatology, Venerology and Allergy Department of Pharmacological Sciences University Hospital Schleswig-Holstein University of Milan University of Luebeck Milan Luebeck Italy Germany [email protected] [email protected]

JAMES J. PAPARELLO PIERO PAV ON E Division of Nephrology and Hypertension Department of Pediatrics Northwestern University Medical School University of Catania Chicago, IL Catania USA Italy [email protected] [email protected] lxvi List of Contributors

SIMON H. PEARCE FABIENNE PICARD Institute of Human Genetics Department of Neurology International Centre for Life University Hospital of Geneva University of Newcastle upon Tyne Geneva Newcastle upon Tyne Switzerland UK [email protected] [email protected] BEN PICKARD JEAN-FRANÇOIS PELLISSIER Medical Genetics Section, Molecular Medicine Centre Laboratoire de Biopathologie Nerveuse et Musculaire University of Edinburgh Faculté de Médecine de Marseille Western General Hospital Marseille Edinburgh France UK [email protected] [email protected]

CHIARA PIERANTONI KATERINA TANYA B. PEREZ-GOSIENGFIAO Clinica di Oncologia Medica, Università Politecnica delle Comprehensive Epilepsy Program, Epilepsy Genetics/ Marche Genomics Laboratories and Epilepsy Center of Excellence Ospedali Riuniti Umberto I – GM Lancisi – G Salesi di Ancona UCLA School of Medicine and VA GLAHS Ancona Los Angeles, CA Italy USA MASSIMO PINZANI NILS PETERS Dipartimento di Medicina Interna Department of Neurology Università degli Studi di Firenze Ludwig-Maximilians-University Munich Florence Munich Italy Germany [email protected] [email protected] ELENA PIOVESANA ROLAND PFÄFFLE Gastroenterology Unit, Liver Transplantatioin Unit, Pediatric Department Department of Surgical and Gastroenterological Sciences University of Leipzig University Hospital of Padua Leipzig Padua Germany Italy

KLAUS PFEFFER ELENA PISCHIK Institute of Medical Microbiology and Hospital Hygiene Porphyria Research Centre University Clinic Duesseldorf Biomedicum-Helsinki Heinrich-Heine-University University of Helsinki Duesseldorf Helsinki Germany Finland [email protected] [email protected]

ASLA PITKÄNEN HANS-WALTER PFISTER Department of Neurobiology Department of Neurology A.I.Virtanen Institute for Molecular Sciences Ludwig-Maximilians University University of Kuopio Munich Kuopio Germany Finland [email protected] [email protected]

MARKUS PFISTER CLAUDIU PLESA Department of Otolaryngology and Head and Neck Surgery Hematology Department University of Tuebingen Edouard Herriot Hospital Tuebingen Lyon Germany France [email protected] [email protected]

STEFAN PFISTER STEFAN K. PLONTKE Department of Pediatric Oncology, Hematology and Department of Otorhinolaryngology – Head and Neck Immunology Surgery University of Heidelberg University of Tuebingen Heidelberg Tuebingen Germany Germany [email protected] [email protected] List of Contributors lxvii

T. BALAKRISHNA PODUVAL ANANDA S. PRASAD Immunology and Hyperthermia Section Department of Medicine, Division of Hematology-Oncology Radiation Biology and Health Sciences Division Wayne State University Bhabha Atomic Research Centre University Health Center Mumbai Detroit, MI India USA [email protected] [email protected]

MARKUS N. PREISING DON POLDERMANS Thoraxcenter Department of Pediatric Ophthalmology, Strabismology and Department of Cardiology Ophthalmogenetics Erasmus Medical Center Rotterdam University of Regensburg Medical Centre Rotterdam Regensburg The Netherlands Germany [email protected] [email protected]

NOEL W. PRESTON BWEE TIEN POLL-THE Microbial Immunology Department of Pediatric Neurology University of Manchester Emma Children’s Hospital Manchester Academic Medical Center UK Amsterdam [email protected] The Netherlands [email protected] DOMINIQUE PRIÉ INSERM ZORAN V. P OPOVIC University of Paris Department of Cellular and Molecular Pathology Paris German Cancer Research Center France University of Heidelberg [email protected] Heidelberg Germany LOURDES PRIETO [email protected] Department of Congenital Heart Disease Cleveland Clinic Foundation Cleveland, OH JAMES M. POWERS USA Department of Pathology, School of Medicine and Dentistry [email protected] University of Rochester Rochester, NY SILVIA G. PRIORI USA Molecular Cardiology [email protected] IRCCS Fondazione Maugeri Pavia CHRISTIAN POX Italy Medical Department [email protected] Ruhr-University Bochum Bochum PETER PROPPING Germany Institute of Human Genetics [email protected] University of Bonn Bonn Germany AINU PRAKASH-CHENG* Department of Genetics and Genomic Sciences [email protected] Mount Sinai School of Medicine of New York University New York, NY TREVOR J. PUGH USA Genome Sciences Centre [email protected] BC Cancer Agency Vancouver, BC Canada HILMAR PRANGE Department of Neurology HERVÉ PUY Georg-August-University Goettingen Centre Français des Porphyries Goettingen INSERM Germany Hôpital Louis Mourier [email protected] Colombes France * deceased [email protected] lxviii List of Contributors

ROSALINE C. M. QUINLIVAN P. S YAMASUNDAR RAO Centre for Inherited Neuromuscular Disorders Division of Pediatric Cardiology Robert Jones and Agnes Hunt Orthopaedic and District The University of Texas/Houston Medical School Hospital NHS Trust Children’s Memorial Hermann Hospital Oswestry Houston, TX UK USA [email protected] [email protected]

GUDRUN RAPPOLD JULIE RAGGIO Institute of Human Genetics Department of Medicine University of Heidelberg Georgetown University Heidelberg Washington, DC Germany USA [email protected]

OLAYINKA RAHEEM CARLA RAUTENBERG Neuromuscular Pathology Division of Rheumatology and Clinical Immunology University of Tampere University Hospital Freiburg Tampere Freiburg Finland Germany [email protected] [email protected]

ROBERTO RAVAZZOLO SATISH R. RAJ Laboratory of Molecular Genetics Vanderbilt University G. Gaslini Institute Medical Center North Department of Pediatrics Nashville, TN University of Genova USA Genova Italy SINGH RAJENDER [email protected] Centre for Cellular and Molecular Biology Hyderabad AMY S. RAWLS India Division of Oncology Department of Medicine Washington University NANDHAGOPAL RAMACHANDIRAN St. Louis, MO Pacific Parkinson’s Research Centre USA Vancouver, BC Canada DOMINIQUE RÉCAN-BUDIARTHA [email protected] Laboratoire de Biochimie et Génétique Moléculaire Hôpital Cochin AP-HP HENA R. RAMAY Paris Pharmacology and Systems Therapeutics France Mount Sinai School of Medicine [email protected] New York, NY USA MIKE RECHER Clinic for Immunology Department of Internal Medicine YUVAL RAMOT University Hospital Zurich Hadassah – Hebrew University Medical Centre Zurich Jerusalem Switzerland Israel [email protected] [email protected] HARI REDDY Division of Cardiology TROY D. RANDALL Trudeau Institute Veterans Affairs Greater Los Angeles Healthcare System and Saranac Lake, NY The David Geffen School of Medicine at UCLA USA Los Angeles, CA [email protected] USA

RICHARD J. REECE JAV I ER RANGEL-MORENO Faculty of Life Sciences Trudeau Institute University of Manchester Saranac Lake, NY Manchester USA UK List of Contributors lxix

DAVID C. REES JOACHIM RICHTER King’s College Hospital Tropical Medicine Unit London Clinics for Gastroenterology, Hepatology and UK Infectious Diseases [email protected] Heinrich-Heine-University Duesseldorf GUIDO REIFENBERGER Germany Department of Neuropathology [email protected] Heinrich-Heine-University Duesseldorf ANNETTE RICHTER-UNRUH Germany Endokrinologikum Ruhr [email protected] Bochum Germany ROLAND REINEHR [email protected] Clinic for Gastroenterology, Hepatology and Infectiology University Hospital Duesseldorf MARKUS J. RIEMENSCHNEIDER Duesseldorf Department of Neuropathology Germany Heinrich-Heine-University [email protected] Duesseldorf Germany ANDRÉ REIS [email protected] Institute of Human Genetics University of Erlangen-Nuremberg FELIX G. RIEPE Erlangen Division of Pediatric Endocrinology and Diabetes Germany Department of Pediatrics [email protected] University Hospital Schleswig-Holstein Christian-Albrechts-University JAN RÉMI Kiel Section of Sleep Germany Department of Neurology [email protected] University of Munich Munich MARCELLA RIETSCHEL Germany Department of Genomics [email protected] University of Bonn Bonn BETTINA C. REULECKE Germany Department of Pediatrics University Hospital of Muenster MARC RIGHINI Muenster Angiology and Hemostasis Germany University Hospitals of Geneva [email protected] Geneva Switzerland ARNOLD REUSER Department of Clinical Genetics EVA RIVEIRA-MUNOZ Erasmus Medical Center Division of Nephrology Rotterdam UCL Medical School The Netherlands Brussels [email protected] Belgium

STEFAN REUTER AVRAHAM I. RIVKIND Clinic for Gastroenterology, Hepatology and Infectiology Department of Surgery Heinrich-Heine-University Hadassah University Hospital Duesseldorf Jerusalem Germany Israel [email protected] [email protected]

NICOLE REVENCU KURT C. ROBERTS-THOMSON Laboratory of Human Molecular Genetics Department of Cardiology Christian de Duve Institute of Cellular Pathology Royal Melbourne Hospital Université Catholique de Louvain University of Melbourne Brussels Melbourne, VIC Belgium Australia [email protected] [email protected] lxx List of Contributors

DAV ID ROBERTSON ANGELIQUE L. ROPS Autonomic Dysfunction Center Nephrology Research Laboratory Vanderbilt University Nijmegen Centre for Molecular Life Sciences Nashville, TN Division of Nephrology USA Radboud University Nijmegen Medical Centre [email protected] Nijmegen The Netherlands [email protected] DROR ROBINSON Rabin Medical Center Petach Tikwa TOM ROSSENBACKER Israel Molecular Cardiology [email protected] IRCCS Fondazione Maugeri Pavia WIILIAM LANE M. ROBSON Italy The Childrens’ Clinic Calgary, AB BERNARD C. ROSSIER Canada Department of Pharmacology and Toxicology [email protected] Lausanne University Lausanne VINCENZO ROCHIRA Switzerland Department of Medicine, Endocrinology & Metabolism Geriatrics ELIO ROTI University of Modena and Reggio Emilia Istituto di Endocrinologia Modena University of Milan Italy Milan [email protected] Italy [email protected] H. PETER RODEMANN Division of Radiobiology & Molecular Environmental MARTIN ROTTER Research Swiss Cardiovascular Center Bern Department of Radiation Oncology University Hospital Eberhard-Karls University Bern Tuebingen Switzerland Germany [email protected] [email protected]

ANDREW ROZELLE DAN M. RODEN Vanderbilt University School of Medicine Division of Immunology and Rheumatology Nashville, TN Stanford University School of Medicine USA Palo Alto, CA [email protected] USA

CHAIM M. ROIFMAN TODD D. ROZEN Division of Immunology and Allergy Michigan Head-Pain and Neurological Institute The Hospital for Sick Children Ann Arbor, MI Toronto, ON USA Canada [email protected] [email protected] JAN ROZING JESSE ROMAN Department of Cell Biology, Immunology Section Department of Medicine University Medical Center Groningen Emory University School of Medicine Groningen Atlanta, GA The Netherlands USA [email protected] [email protected]

LEWIS J. RUBIN PIERRE RONCO Division of Pulmonary and Critical Care Medicine INSERM, UMR Department of Medicine Paris University of California at San Diego France La Jolla, CA [email protected] USA List of Contributors lxxi

SABINE RUDNIK-SCHÖNEBORN SEZER SAGLAM Institute of Human Genetics Department of Medical Oncology Aachen University of Technology Oncology Institute Aachen Istanbul University Germany Istanbul [email protected] Turkey [email protected]

GUENTER RUDOLPH Eye Clinic GIUSEPPE SAGLIO Ludwig-Maximilians-University Munich Department of Clinical and Biological Sciences Munich University of Turin Germany S.Luigi Hospital Turin Italy ISABELLE L. RUEL [email protected] Institute on Nutraceuticals and Functional Foods Laval University AMRIK SAHOTA Québec, QC Nelson Laboratory, Department of Genetics Canada Rutgers University Piscataway, NJ KLAUS RUETHER USA Department of Ophtalmology, CVK [email protected] Charité Berlin HARJOT K. SAINI Germany St. Boniface General Hospital Research Centre [email protected] University of Manitoba Winnipeg, MB Canada ROBERT RUFFOLO Research and Development SHIMON SAKAGUCHI Wyeth Research Department of Experimental Pathology Collegeville, PA Institute for Frontier Medical Sciences USA Kyoto University [email protected] Kyoto Japan RAINER RUPPRECHT [email protected] Department of Psychiatry Ludwig-Maximilian-University Munich KHASHAYAR SAKHAEE Munich Center for Mineral Metabolism and Clinical Research Germany University of Texas Southwestern Medical Center [email protected] Dallas, TX USA [email protected] TOBIAS A. RUPPRECHT Department of Neurology Ludwig-Maximilians-University JORGE I. SALLUH Munich National Cancer Institute Germany Rio de Janeiro [email protected] Brazil [email protected]

RICHARD L. SABINA RÉMI SALOMON Medical College of Wisconsin Service de Néphrologie Pédiatrique Milwaukee, WI Hôpital Necker-Enfants Malades USA Paris [email protected] France

MARCUS D. SÄEMANN ULRICH SALZER Department of Internal Medicine III Department of Medicine, Division of Rheumatology and Division of Nephrology and Dialysis Clinical Immunology Medical University of Vienna University Hospital Freiburg Vienna Freiburg Austria Germany [email protected] [email protected] lxxii List of Contributors

MILLIE SAMANIEGO TILMAN SAUERBRUCH University of Wisconsin School of Medicine and Public Department of Internal Medicine I Health University of Bonn Madison, WI Bonn USA Germany [email protected] [email protected]

DIMITRIOS SAMONAKIS REGINALD S. SAUVE Department of Liver Transplantation and Hepatobiliary Department of Pediatrics Surgery Alberta Children’s Hospital Royal Free Hospital The University of Calgary Hampstead, London Calgary, AB UK Canada

MARTIN O. SAVAG E SEDA SANCAK Pediatric Endocrinology Section Marmara University Medical School Department of Endocrinology Istanbul St. Bartholomew’s Hospital Turkey London [email protected] UK

JEREMY SANDERSON RAV I SAVARIRAYAN Department of Gastroenterology Genetic Health Services Victoria Guy’s & St Thomas’s NHS Foundation Trust Murdoch Children’s Research Institute and Department of London Pediatrics UK University of Melbourne Melbourne, VIC KONRAD SANDHOFF Australia LIMES Program Unit Membrane Biology and Lipid Biochemistry ANDREW J. SAXON Kekulé Institute University of Washington School of Medicine and Veterans Bonn University Affairs Puget Sound Health Care System Bonn Seattle, WA Germany USA [email protected] [email protected]

ANNA SARKOZY JOHN A. SAYER Department of Experimental Medicine Institute of Human Genetics University La Sapienza and CSS-Mendel Institute International Centre for Life Rome University of Newcastle upon Tyne Italy Newcastle upon Tyne [email protected] UK [email protected]

NICHOLAS J. SARLIS ANDROMACHI SCARADAVOU Department of Medical Affairs Laboratory of Complement Biology Oncology New York Blood Center U.S. Pharma Ops New York, NY Sanofi-Aventis USA Bridgewater, NJ [email protected] USA [email protected] MARIO SCARTOZZI Clinica di Oncologia Medica HIROKAZU SASAKI Università Politecnica delle Marche Department of Emergency and Critical Care Medicine Ospedali Riuniti Umberto I – GM Lancisi – G Salesi di Tokyo Medical University Ancona Shinjuku, Tokyo Ancona Japan Italy [email protected] FRANK SCHAEFFEL JEAN MARIE SAUDUBRAY Section Neurobiology of the Eye Hôpital Necker Enfants-Malades University Eye Hospital Paris Tuebingen France Germany [email protected] [email protected] List of Contributors lxxiii

JULIE V. S CHAFFER WOLFGANG SCHILLINGER Department of Dermatology Heart Center New York University School of Medicine University Goettingen New York, NY Goettingen USA Germany [email protected] [email protected]

KARIN SCHARFFETTER-KOCHANEK SIMONE SCHIMPF Department of Dermatology and Allergology Molecular Genetics Laboratory University of Ulm Institute for Ophthalmic Research Ulm Centre for Ophthalmology Germany University of Tuebingen [email protected] Tuebingen Germany HUBERT SCHARNAGL [email protected] Clinical Institute of Medical and Chemical Laboratory Diagnostics AREND F. L. SCHINKEL Medical University of Graz Thoraxcenter, Department of Cardiology Graz Erasmus Medical Center Rotterdam Austria Rotterdam [email protected] The Netherlands [email protected] INGRID E. SCHEFFER Department of Medicine and Pediatrics SVEN SCHINNER University of Melbourne Department of Endocrinology, Diabetes and Rheumatology Melbourne, VIC University Hospital Duesseldorf Australia Duesseldorf Germany UTE SCHEPERS LIMES Institute Program Unit Membrane Biology & Lipid ALBERT SCHINZEL Biochemistry Institute of Medical Genetics Kekulé-Institute University of Zurich University Bonn Zurich Bonn Switzerland Germany [email protected]

LAURENT SCHILD ERWIN SCHLEICHER Department of Pharmacology and Toxicology Department of Internal Medicine Lausanne University Division of Endocrinology, Angiology, Nephrology and Lausanne Clinical Chemistry Switzerland University Hospital Tuebingen [email protected] Tuebingen Germany OLIVER SCHILDGEN Department of Virology FREIMUT SCHLIESS Institute for Medical Microbiology, Immunology, and Department of Gastroenterology, Hepatology and Parasitology Infectiology Bonn University-Hospital Germany Heinrich-Heine-University [email protected] Duesseldorf Germany MEINHARD SCHILLER [email protected] Department of Dermatology University Muenster BERNHARD SCHMIDT Muenster Department of Biochemistry Germany Georg-August-University Goettingen [email protected] Goettingen Germany MARTIN SCHILLINGER Department of Internal Medicine II, Division of Angiology HARTMUT SCHMIDT University of Vienna, Medical School University Hospital of Muenster Vienna Muenster Austria Germany [email protected] [email protected] lxxiv List of Contributors

WOLFF SCHMIEGEL GUSTAV SCHONFELD Medical Department Washington University in St. Louis School of Medicine Ruhr-University Bochum St. Louis, MI Bochum USA Germany [email protected] [email protected]

BENEDIKT G. H. SCHOSER MARCUS SCHMITT Department of Neurology Clinic for Gastroenterology, Hepatology and Infectiology Friedrich-Baur-Institute Heinrich-Heine-University Ludwig-Maximilians University Munich Duesseldorf Munich Germany Germany [email protected] [email protected]

STEFFEN SCHMITZ-VALCKENBERG RUTH SCHREIBER Institute of Ophthalmology and Moorfields Eye Hospital Department of Pediatrics London Soroka University Medical Center UK Beer Sheva Israel

SUSANNE A. SCHNEIDER Sobell Department of Motor Neuroscience and Movement JOHANN MICHAEL SCHRÖDER Disorders RWTH Aachen University Hospital Institute of Neurology Aachen London Germany UK [email protected] [email protected]

ROLF SCHRÖDER SUSANNE SCHNITTGER Department of Neurology Munich Leukemia Laboratory (MLL) University of Bonn Munich Bonn Germany Germany [email protected]

JOHN-JOHN B. SCHNOG Department of Internal Medicine EDWARD H. SCHUCHMAN Slotervaart Hospital Department of Genetics and Genomic Sciences Amsterdam Mount Sinai School of Medicine of New York University The Netherlands New York, NY [email protected] USA

HENDRIK P. N. S CHOLL REBECCA SCHÜLE Department of Ophthalmology Department for Neurodegenerative Diseases University of Bonn Hertie-Institute for Clinical Brain Research and Centre for Bonn Neurology Germany Tuebingen [email protected] Germany [email protected]

JÜRGEN SCHÖLMERICH Department of Internal Medicine I ULRICH S. SCHULER University Medical Center Regensburg Medical Clinic I Regensburg University Hospital Dresden Germany Dresden [email protected] Germany [email protected]

LUDGER SCHÖLS Department for Neurodegenerative Diseases KARSTEN SCHULMANN Hertie-Institute for Clinical Brain Research and Centre for Medical Department Neurology Ruhr-University Bochum Tuebingen Bochum Germany Germany [email protected] [email protected] List of Contributors lxxv

JAN SCHULTE AM ESCH BÄRBEL SCHÜTTE Department of General-, Visceral- and Pediatric Surgery Department of Dermatology University Hospital Duesseldorf University of Muenster Heinrich-Heine-University Muenster Duesseldorf Germany Germany [email protected] [email protected]

GESA SCHWANITZ ANSGAR SCHULZ Institute of Human Genetics University Children’s Hospital University of Bonn University of Ulm Bonn Ulm Germany Germany [email protected]

HEIKE SCHULZE ELISABETH L. SCHWARZ LIMES Program Unit Membrane Biology and Lipid Department of Pathology and ARUP Institute for Clinical and Biochemistry Experimental Pathology Kekulé Institute Salt Lake City, UT Bonn University USA Bonn [email protected] Germany

JÖRG-DIETER SCHULZKE JOHANNES SCHWARZ Gastroenterology and Infectiology Department of Neurology Campus Benjamin Franklin University of Leipzig Charité Leipzig Berlin Germany Germany [email protected] MARTIN SCHWARZ Department of Gastroenterology, Hepatology and JOHANNES SCHUMACHER Infectiology Institute of Human Genetics University-Hospital University of Bonn Heinrich-Heine-University Bonn Duesseldorf Germany Germany [email protected]

PETER E. H. SCHWARZ ULRIKE SCHUMACHER Technical University Dresden Institute of Medical Microbiology and Hygiene Medical Clinic III University of Tuebingen Dresden Tuebingen Germany Germany [email protected]

KLAUS SCHÜMANN THOMAS SCHWARZ Technical University Munich Department of Dermatology Munich University Hospital of Schleswig-Holstein Germany Campus Kiel [email protected] Kiel Germany DETLEF SCHUPPAN [email protected] Division of Gastroenterology and Hepatology Beth Israel Deaconess Medical Center Harvard Medical School FRITZ SCHWARZMANN Boston, MA Institute of Medical Microbiology USA University of Regensburg [email protected] Regensburg Germany

ANDREA SCHUPPENIES Medical Clinic III NORBERT SCHWENZER University Hospital Dresden Department of Oral and Maxillofacial Surgery Dresden Eberhard-Karls-University Germany Tuebingen [email protected] Germany lxxvi List of Contributors

HEINRICH SCHWINDT ANGELO SELICORNI Department of Neuropathology Department of Pediatrics, Hematology, Oncology and University of Cologne Endocrinology Cologne Medical University of Gdansk Germany Gdansk Poland [email protected] FRANCESCA SCIANDRA CNR, Istituto di Chimica del Riconoscimento Molecolare c/o Istituto di Biochimica e Biochimica Clinica CARLO SELMI Università Cattolica del Sacro Cuore Division of Rheumatology, Allergy and Clinical Immunology Rome University of California at Davis Italy Davis, CA [email protected] USA

C. RONALD SCOTT Division of Medical Genetics JOSEPH B. SELVANAYAGAM University of Washington Department of Cardiovascular Medicine Seattle, WA Flinders Medical Centre USA Bedford Park, SA [email protected] Australia [email protected]

JOHN M. SCOTT Department of Biochemistry ATILLA ŞENAYLI Trinity College Dublin Department of Pediatric Surgery Dublin Gaziosmanpaşa University School of Medicine Ireland Tokat [email protected] Turkey

WENDY M. SEALEY SRIJITA SEN-CHOWDHRY Department of Biochemistry and Molecular Biology Inherited Cardiovascular Disease Group University of Arkansas for Medical Sciences The Heart Hospital Little Rock, AR University College London Hospitals USA NHS Trust and Institute of Cardiovascular Science University College London JENO SEBES London Saravanan Kasthury University of Tennessee Medical Center UK Memphis, TN [email protected] USA [email protected] MARCO SENZOLO Gastroenterology Unit, Liver Transplantation Unit, RONNEN H. SEGMAN Department of Surgical and Gastroenterological Sciences Department of Psychiatry University Hospital of Padua Hadassah University Hospital Padua Jerusalem Italy Israel [email protected] [email protected]

JOSE M. SERRATOSA JENS SEILER Swiss Cardiovascular Center Bern Department of Neurology University Hospital Fundación Jiménez Díaz and Universidad Autónoma de Bern Madrid Switzerland Madrid [email protected] Spain [email protected]

BERTHOLD SEITZ Department of Ophthalmology GEORGES SERRATRICE University of Saarland Service de Neurologie et Maladies Neuromusculaires Homburg/Saar Marseille Germany France [email protected] [email protected] List of Contributors lxxvii

CAROLINE A. SEWRY ROBERT S. SHELDON Centre for Inherited Neuromuscular Disorders Libin Cardiovascular Institute of Alberta Robert Jones and Agnes Hunt Orthopedic and District The University of Calgary Hospital NHS Trust Calgary, AB Oswestry Canada UK [email protected] WATARU SHIMIZU Division of Cardiology, Department of Internal Medicine MUAMMER SEYHAN National Cardiovascular Center Department of Dermatology Suita, Inonu University Japan Malatya [email protected] Turkey [email protected] OSAMU SHIMOKAWA Kyusyu Medical Science Nagasaki Laboratory ENGIN SEZER Nagasaki Department of Dermatology Japan Gaziosmanpaşa University School of Medicine Tokat Turkey YOON S. SHIN [email protected] Children’s Hospital University of Munich ARTI NSHAH Munich Division of Cardiac Electrophysiology Germany Mount Sinai School of Medicine [email protected] Elmhurst Hospital Center Elmhurst, NY TAKAHIRO SHINKAI USA Department of Psychiatry University of Occupational and Environmental Health ARIEH Y. S HALEV Kitakyushu Department of Psychiatry Japan Hadassah University Hospital [email protected] Jerusalem Israel HARUO SHINTAKU [email protected] Department of Pediatrics Osaka City University Graduate School of Medicine HUI SHAO Osaka Department of Ophthalmology and Visual Sciences Japan University of Louisville [email protected] Louisville, KY USA MASAAKI SHIOHARA Department of Pediatrics NAND LAL SHARMA Shinshu University, School of Medicine Department of Dermatology Matsumoto Venereology & Leprosy Indira Gandhi Medical College Japan Shimla [email protected] India [email protected] ANUSHREE C. SHIRALI SUMEET K. SHARMA Department of Internal Medicine The University of Texas/Houston Medical School Section of Nephrology Children’s Memorial Hermann Hospital Yale University School of Medicine Houston, TX New Haven, CT USA USA [email protected] [email protected]

YOGESH M. SHASTRI VORASUK SHOTELERSUK Department of Medicine I Division of Medical Genetics and Metabolism ZAFES Department of Pediatrics J. W. Goethe-University Hospital Chulalongkorn University Frankfurt Germany [email protected] [email protected] lxxviii List of Contributors

WEINIAN SHOU H. ANNE SIMMONDS Department of Pediatrics, Biochemistry and Molecular Purine Research Unit Biology Guy’s Hospital Indiana University School of Medicine King’s College Herman B Wells Center for Pediatric Research London Indianapolis, IN UK USA [email protected] [email protected] CHRISTIAN SIMON KENNETH R. SHROYER Department of Otolaryngology–Head and Neck Surgery Departments of Dermatology and Pathology Ruprecht-Karls-University University of Colorado School of Medicine Heidelberg Denver, CO Germany USA [email protected]

ERIC SIBLEY JANA ŠÍMOVÁ Division of Pediatric Gastroenterology Department of Tumour Immunology Stanford University School of Medicine Institute of Molecular Genetics Stanford, CA Academy of Sciences of the Czech Republic USA Prague [email protected] Czech Republic [email protected] REINER SIEBERT Institute of Human Genetics JOHN SIMPSON University Hospital Schleswig-Holstein Department of General Surgery Campus Kiel University Hospital Kiel Nottingham Germany UK [email protected] [email protected]

SÖREN V. S IEGMUND ANCA SINDRILARU Department of Medicine II (Gastroenterology, Hepatology Department of Dermatology and Infectious Diseases) University of Muenster University Hospital of Heidelberg Muenster Mannheim Germany Germany [email protected] MANFRED V. S INGER Department of Medicine II (Gastroenterology, Hepatology ROSWITHA SIENER and Infectious Diseases) Department of Urology University Hospital of Heidelberg University of Bonn Mannheim Bonn Germany Germany [email protected] [email protected] BRAMAH N. SINGH MATTHIAS SIEPE Division of Cardiology Department of Cardiovascular Surgery Veterans Affairs Greater Los Angeles Healthcare System and University Medical Center Freiburg The David Geffen School of Medicine at UCLA Freiburg Los Angeles, CA Germany USA [email protected] [email protected]

CAROLINE SILVE HARPREET SINGH INSERM Division of Cardiology University of Paris Veterans Affairs Greater Los Angeles Healthcare System and Paris The David Geffen School of Medicine at UCLA France Los Angeles, CA [email protected] USA

GABRIELLA SILVESTRI UPINDERPAL SINGH Department of Neuroscience Department of Physical Medicine and Rehabilitation Catholic University All India Institute of Medical Sciences Rome New Delhi Italy India [email protected] [email protected] List of Contributors lxxix

SANDRA SIRRS LUBOMIR SOKOL Vancouver Hospital and Health Sciences Centre Division of Malignant Hematology Vancouver, BC Department of Interdisciplinary Oncology Canada H. Lee Moffitt Cancer Center and Research Institute [email protected] University of South Florida Tampa, FL USA ERIK A. SISTERMANS [email protected] VU University Medical Centre Amsterdam GÖKSEL SOMAY The Netherlands Department of Neurology [email protected] Haydarpaşa Numune Educational and Research Hospital Istanbul CHRISTINE SKERKA Turkey Department of Infection Biology [email protected] Leibniz Institute for Natural Products Research and Infection Biology WILLIAM J. SPEAKE Jena Department of General Surgery Germany University Hospital [email protected] Nottingham UK

MARC SLAWIK JO SPENCER Medical Clinic Division of Immunology, Infection & Inflammation Ludwig-Maximilians-University Immunobiology Department Munich Kings College Germany London UK AUGUST H. M. SMELT Department of General Internal Medicine ANNE-DORTE SPERFELD Leiden University Medical Center Department of Neurology Leiden University of Ulm The Netherlands Ulm [email protected] Germany [email protected]

A. GORDON SMITH ODED SPERLING Department of Neurology Department of Human Molecular Genetics and Biochemistry University of Utah School of Medicine Tel Aviv University Salt Lake City, UT Ramat-Aviv USA Israel [email protected] [email protected]

EMILY SMITH SONJA STÄNDER La Jolla Institute for Allergy and Immunology Division of Department of Dermatology Inflammation Biology University Hospital of Muenster La Jolla, CA Muenster USA Germany [email protected]

M. IAIN SMITH NICOLE STANKUS Department of Medicine Department of Nephrology University of Virginia School of Medicine University of Chicago Charlottesville, VA Chicago, IL USA USA [email protected] ERIC A. SOBIE Pharmacology and Systems Therapeutics ROLAND STAUD Mount Sinai School of Medicine University of Florida New York, NY Gainesville, FL USA USA [email protected] [email protected] lxxx List of Contributors

ANDREW C. STEER EGGERT STOCKFLETH Centre for International Child Health Department of Dermatology Department of Pediatrics Skin Cancer Center Charité University of Melbourne University Hospital of Berlin Melbourne, VIC Berlin Australia Germany [email protected] [email protected]

SYLVIA STÖCKLER-IPSIROGLU IOANNIS STEFANIDIS Biochemical Genetics and National Neonatal Screening Department of Nephrology, Medical School Laboratories Department of General Pediatrics University of Thessaly University Children’s Hospital Vienna Larissa Vienna Greece Austria [email protected] [email protected]

CLAUDE STOLL JÜRGEN M. STEIN Laboratoire de Génétique Médicale Department of Medicine I Faculté de Médecine ZAFES Strasbourg J. W. Goethe-University Hospital France Frankfurt [email protected] Germany [email protected] GUIDO STOLL Department of Neurology University of Wuerzburg DANIELA STEINBERGER Wuerzburg Bioscientia Germany Center for Human Genetics [email protected] Ingelheim Germany JAMES K. STOLLER [email protected] Department of Pulmonary and Critical Care Medicine Section of Respiratory Therapy Cleveland Clinic Lerner College of Medicine ORTRUD K. STEINLEIN Cleveland, OH Ludwig-Maximilians-University of Munich School of USA Medicine [email protected] Institute of Human Genetics Munich GISELA STOLTENBURG-DIDINGER Germany Institute of Neuropathology [email protected] Campus Charité Berlin Germany ULRICH STEPHANI [email protected] Clinics for Neuropediatrics of Kiel University Kiel MARVIN J. STONE Germany Baylor Sammons Cancer Center [email protected] Baylor University Medical Center Dallas, TX USA SUNCANICA LJUBIN STERNAK [email protected] Department of Virology Collaborating Centre WHO for Virology ALEXANDER STORCH Croatian National Institute of Public Health Department of Neurology Zagreb Technical University of Dresden Croatia Dresden [email protected] Germany [email protected]

GERALD STÖBER BJÖRN STORK Department of Psychiatry and Psychotherapy Department of Internal Medicine I University of Wuerzburg University of Tuebingen Wuerzburg Tuebingen Germany Germany [email protected] [email protected] List of Contributors lxxxi

CONSTANTINE STRATAKIS HELEN C. SU Program on Developmental Endocrinology & Genetics Molecular Development Section National Institute of Child Health and Human Development Laboratory of Immunology Bethesda, MD NIAID, NIH USA Bethesda, MD [email protected] USA [email protected]

MICHAEL STRAUB Department of Urology and Pediatric Urology HOLGER SUDHOFF Urolithiasis Research Group Department of Otorhinolaryngology/Head and Neck Surgery University of Ulm University of Bochum Ulm Bochum Germany Germany [email protected] [email protected]

PETER H. SUGDEN ERICH C. STRAUSS Gladstone Institute of Virology and Immunology NHLI Division, Faculty of Medicine University of California Imperial College London San Francisco, CA London USA UK [email protected] RICHARD J. SUGRUE Division of Molecular and Cell Biology OLAF STRAUSS School of Biological Sciences Experimental Ophthalmology Nanyang Technological University Department of Ophthalmology Singapore University of Regensburg [email protected] Regensburg Germany [email protected] ELEANOR M. SUMMERHILL Warren Alpert Medical School at Brown University Providence, RI EUGEN-MATTHIAS STREHLE USA Neuromuscular Genetics International Centre for Life Newcastle upon Tyne DEMING SUN UK Department of Ophthalmology and Visual Sciences [email protected] University of Louisville Louisville, KY USA ROBERT M. STRIETER Department of Medicine CORD SUNDERKÖTTER University of Virginia School of Medicine Department of Dermatology Charlottesville, VA University Hospital of Muenster USA Muenster [email protected] Germany [email protected] MICHAEL STRUPP Department of Neurology MANISH SUNEJA Ludwig-Maximilians-University Division of Nephrology Klinikum Großhadern Department of Internal Medicine Munich University of Iowa College of Medicine Germany Iowa City, IA [email protected] USA [email protected]

MICHAEL STÜRZL Division of Molecular and Experimental Surgery TIINA SUOMINEN Department of Surgery Neurogenetics University of Erlangen-Nuremberg University of Tampere Erlangen Tampere Germany Finland [email protected] [email protected] lxxxii List of Contributors

KANYA SUPHAPEETIPORN AKIHIRO TAKATSU Division of Medical Genetics and Metabolism Department of Forensic Medicine Department of Pediatrics Jikei University School of Medicine Chulalongkorn University Tokyo Bangkok Japan Thailand [email protected]

FILIPPO TAMANINI SANKAR SURENDRAN Internal Medicine Department of Cell Biology and Genetics The University of Texas Medical Branch Center for Biomedical Genetics Galveston, TX Erasmus University Medical Center USA Rotterdam [email protected] The Netherlands [email protected]

CHITRA SURI MOTOKO TANAKA Westchester Community College Department of Nephrology Valhalla, NY Akebono Clinic USA Kumamoto [email protected] Japan [email protected]

MILLICENT SUTTON Laboratory of Complement Biology LAURA M. TANNER New York Blood Center Department of Pediatrics New York, NY Turku University Hospital USA Turku Finland [email protected] KUNIHIKO SUZUKI Neuroscience Center AYALEW TEFFERI University of North Carolina School of Medicine Division of Hematology Chapel Hill, NC Mayo Clinic College of Medicine USA Rochester, MN [email protected] USA [email protected]. YOICHI SUZUKI Department of Medical Genetics BIN SING TEH Tohoku University School of Medicine Department of Radiology/Radiation Oncology Sendai Baylor College of Medicine and The Methodist Hospital Japan Houston, TX [email protected] USA

EHTESHAMUDIN SYED BIN TEAN TEH Division of Nephrology and Hypertension Laboratory of Cancer Genetics Feinberg School of Medicine Van Andel Research Institute Northwestern University Grand Rapids, MI Chicago, IL USA USA [email protected]

JAIME TEJEDOR JACOB I. SZNAJDER Department of Ophthalmology Division of Pulmonary and Critical Care Hospital Ramón y Cajal Feinberg School of Medicine Madrid Northwestern University Spain Chicago, IL [email protected] USA

CEVAHIR TEKCAN KEIYA TADA Barbaros Mh. Başkan Sk. Özlem Sit. Departments of Pediatrics and Medical Genetics Koşuyolu Tohoku University School of Medicine Istanbul Sendai Turkey Japan [email protected] List of Contributors lxxxiii

HUGO TEN CATE JAMES B. THODEN Laboratory for Clinical Thrombosis and Hemostasis Department of Biochemistry Department of Internal Medicine University of Wisconsin Maastricht University Madison, WI Maastricht USA The Netherlands [email protected] CHRISTIE P. T HOMAS Division of Nephrology, Department of Internal Medicine HARRIET S. TENENHOUSE University of Iowa College of Medicine Department of Human Genetics Iowa City, IA Montreal Children’s Hospital Research Institute USA McGill University [email protected] Montreal, QC Canada ALLAN D. THOMSON [email protected] Molecular Psychiatry Laboratory, Windeyer Institute of Medical Sciences Department of Psychiatry and Behavioural Sciences HIROKI TERAGAWA Royal Free and University College London Department of Medicine and Molecular Science London Medical School Graduate School of Biomedical Sciences London Hiroshima University UK Hiroshima Japan [email protected] DAVID J. TIMSON School of Biological Sciences Queen’s University Belfast VLADIMIR TESAR Medical Biology Centre Department of Nephrology Belfast Charles University UK Prague [email protected] Czech Republic [email protected] VALERIA TIRANTI Unit of Molecular Neurogenetics ULRICH THALHEIMER Pierfranco and Luisa Mariani Center for the Study of Department of Liver Transplantation and Hepatobiliary Children’s Mitochondrial Disorders Surgery IRCCS Foundation Neurological Institute Royal Free Hospital “CBesta” Hampstead, London Milan UK Italy [email protected] KUMARASAMY THANGARAJ Centre for Cellular and Molecular Biology JAY A. TISCHFIELD Hyderabad Nelson Laboratory, Department of Genetics India Rutgers University [email protected] Piscataway, NJ USA

MANISH THAPAR CHEE-KEONG TOH Division of Gastroenterology and Hepatology Department of Medical Oncology University of Missouri National Cancer Centre Columbia, MO Singapore USA Singapore [email protected] TANYA THIAGARAJAH Learning Disability Service YARON TOMER NHS Lothian Division of Endocrinology Edinburgh University of Cincinnati UK Cincinnati, OH USA HAGEN THIEME Department of Ophthalmology RADE TOMIC Johannes-Gutenberg-University Mainz Department of Medicine Mainz Atlanta VA Medical Center Germany Atlanta, GA [email protected] USA lxxxiv List of Contributors

JOEL MICHELS TOPF KATHY TRIANTAFILOU Chronic Kidney Disease Clinics Infection and Immunity Group Detroit, MI School of Life Sciences USA University of Sussex [email protected] Brighton UK [email protected] HARRYS A. TORRES Department of Infectious Diseases Infection Control and Employee Health CHRISTOS TRIANTOS The University of Texas M. D. Anderson Cancer Center Department of Liver Transplantation and Hepatobiliary Houston, TX Surgery USA Royal Free Hospital Hampstead, London UK JEAN-NICOLAS TOURNIER Unité Interactions Hôte-Pathogène ROSARIO RICH TRIFILETTI Département de Biologie des Agents Transmissibles Department of Pediatrics and Neurology Centre de Recherches du Service de Santé des Armées Morristown Memorial Hospital Atlantic Health System La Tronche Morristown, NJ France USA [email protected] BARBARA L. TRIGGS-RAINE MARY I. TOWNSLEY Department of Biochemistry and Medical Genetics Department of Physiology and the Center for Lung Biology University of Manitoba University of South Alabama College of Medicine Winnipeg, MB Mobile, AL Canada USA [email protected] [email protected] FRANCESCO TROTTA Section of Rheumatology KLAUS V. T OYKA Department of Clinical and Experimental Medicine Department of Neurology and Clinical Research Group for University of Ferrara Medical School MS and Neuroimmunology Ferrara University of Wuerzburg Italy Wuerzburg [email protected] Germany [email protected] TERENCE K. TROW Pulmonary Hypertension Center MARIA GRAZIA TOZZI Yale University School of Medicine Department of Biology New Haven, CT University of Pisa USA Pisa [email protected] Italy HAN-MOU TSAI MICHAEL TRAUNER Division of Hematology Division of Gastroenterology and Hepatology Montefiore Medical Center and Albert Einstein College of Medical University of Graz Medicine Graz New York, NY Austria USA [email protected] [email protected]

CARSTEN TSCHÖPE HEIKO TRAUPE Center for Cardiovascular Research Department of Dermatology Charité University Hospital of Muenster Berlin Muenster Germany Germany [email protected]

FRANCO TREVISANI HAYRETTIN TUMANI Dipartimento di Medicina Interna, Cardioangiologia, Department of Neurology Epatologia University of Ulm Alma Mater Studiorum Università di Bologna Ulm Bologna Germany Italy [email protected] List of Contributors lxxxv

BENJAMIN D. TYRRELL IRIS UNTERBERGER Division of Cardiology Department of Neurology Walter Mackenzie Center Medical University of Innsbruck University of Alberta Innsbruck Edmonton, AB Austria Canada [email protected]

ROBERT J. UNWIN BJARNE UDD Centre for Nephrology and Department of Physiology Department of Medical Genetics Royal Free and University College Medical School Vaasa Central Hospital University College London University of Helsinki London Helsinki UK Finland [email protected] [email protected]

ZSOLT URBAN ANSELM UEBING Departments of Pediatrics and Genetics Adult Congenital Heart Disease Unit Washington University School of Medicine Royal Brompton and Harefield NHS Trust St. Louis, MO London USA UK [email protected] [email protected] INA L. URBATSCH Department of Cell Biology and Biochemistry TAKESHI UEHARA Texas Tech University Health Sciences Center Department of Laboratory Medicine Lubbock, TX Shinshu University School of Medicine USA Matsumoto [email protected] Japan

JANET Y. U RIU-ADAMS SEMA UGURALP Department of Nutrition Department of Pediatric Surgery University of California at Davis Turgut Ozal Medical Center Davis, CA Inonu University USA Malatya [email protected] Turkey [email protected] HOPE E. URONIS Medicine, Pharmacology and Cancer Biology Duke University JOHANNES UHL Durham, NC Scil Proteins Production GmbH USA Halle [email protected] Germany

JOCHEN UTIKAL JOUNI UITTO Department of Dermatalogy, Venereology and Allergology Department of Dermatology and Cutaneous Biology University Medical Centre Mannheim Jefferson Medical Collage Ruprechts-Karls-University of Heidelberg Philadelphia, PA Mannheim USA Germany [email protected] [email protected]

ANDREA L. UTZ MANGAJJI R. UMAPATHI Neuroendocrine Unit Maternity and Child Welfare Center Massachusetts General Hospital Kanjhawala Boston, MA New Delhi USA India [email protected]

ALEXANDER UNRATH GABRIEL I. UWAIFO Department of Neurology Division of Endocrinology University of Ulm University of Mississippi Medical Center Ulm Jackson, MS Germany USA lxxxvi List of Contributors

MARIO VACCARO PETER VON DEN DRIESCH Institute of Dermatology Center for Skin Diseases Policlinico Universitario Department of Dermatology and Allergology Messina Stuttgart Clinic Italy Stuttgart [email protected] Germany [email protected] MARIZ VAINZOF Human Genome Research Center CARLA VAN DER KALLEN Department of Genetics and Evolutionary Biology Laboratory of Metabolism and Vascular Medicine Institute of Biosciences University of Maastricht University of São Paulo Maastricht São Paulo The Netherlands Brazil [email protected]

ALBERT H. VAN GENNIP* MARIAN VALKO Laboratory of Biochemical Genetics, Clinical Genetics Center Faculty of Chemical and Food Technology Maastricht University Medical Center Slovak Technical University Maastricht Bratislava The Netherlands Slovakia [email protected] ANDRÉ B. P. VAN KUILENBURG Laboratory for Genetic Metabolic Diseases GERT VAN ASSCHE Academic Medical Center Division of Gastroenterology University of Amsterdam University Hospital Leuven Amsterdam Leuven The Netherlands Belgium [email protected] [email protected] TOIN H. VAN KUPPEVELT BRUNO VANDE BERG Department of Matrix Biochemistry Departments of Nephrology and Radiology Nijmegen Centre for Molecular Life Sciences Cliniques Universitaires Saint-Luc Nijmegen Brussels The Netherlands Belgium [email protected] [email protected] GEERT VAN LOO Department of Molecular Biology GEORGES VAN DEN BERGHE University of Leuven Ghent University, Zwijnaarde Leuven Ghent Belgium Belgium [email protected] BARBARA C. VAN MUNSTER Department of Clinical Epidemiology and Biostatistics GER J. VAN DER VUSSE Academic Medical Center Cardiovascular Research Institute University of Amsterdam Maastricht University Amsterdam Maastricht The Netherlands The Netherlands [email protected] [email protected]

MAURICE A. M. VAN STEENSEL HANNEKE M. VAN DER STRAATEN Department of Dermatology Department of Haematology University Hospital Maastricht University Medical Center Utrecht Maastricht Utrecht The Netherlands The Netherlands [email protected] [email protected] FILIP VANHOENACKER WIM VAN HUL Department of Medical Genetics Department of Medical Genetics University of Antwerp University and University Hospital of Antwerp Antwerp Antwerp Belgium Belgium [email protected] * deceased List of Contributors lxxxvii

SERGIO L. VARGAS MARCO VINCETI University of Chile School of Medicine Department of Public Health Sciences Santiago University of Modena and Reggio Emilia Chile Modena [email protected] Italy

MANISH KUMAR VARSHNEY JOHN VISSING Department of Orthopedics Neuromuscular Clinic and Research Unit All India Institute of Medical Sciences Department of Neurology New Delhi National University Hospital India Copenhagen Denmark [email protected] NOSRATOLA D. VAZIRI Division of Nephrology and Hypertension UCI Medical Center NICHOLAS J. VOGELZANG Irvine, CA Nevada Cancer Institute USA Las Vegas, NY [email protected] USA

RAINER VOISARD LEO F. VERDONCK – Department of Haematology Department of Internal Medicine II Cardiology University Medical Center Utrecht University of Ulm Utrecht Ulm The Netherlands Germany [email protected] [email protected]

LUCA VOLTERRANI NATHALIE VERGNOLLE Department of Radiology Department of Pharmacology and Therapeutics University of Siena The University of Calgary Siena Calgary, AB Italy Canada [email protected] [email protected]

STEPHAN VOM DAHL ESSI VIDING Department of Internal Medicine Department of Psychology St. Franziskus-Hospital, Academic Teaching Hospital University College University of Cologne London Cologne UK Germany [email protected] [email protected]

MIIKKA VIKKULA CHRISTINE A.F. VON ARNIM Laboratory of Human Molecular Genetics Department of Neurology Christian de Duve Institute of Cellular Pathology Ulm University Université Catholique de Louvain Ulm Brussels Germany Belgium [email protected] [email protected]

YSKERT VON KODOLITSCH ANNA VILLA Heartcenter, Cardiology CNR-Istituto Tecnologie Biomediche University Hospital Hamburg-Eppendorf Milan Hamburg Italy Germany [email protected] [email protected]

ANGELA VINCENT CAROLINA VON REITZENSTEIN Weatherall Institute of Molecular Medicine Mannheim University of Applied Science John Radcliffe Hospital Institut für Instrumentelle Analytik und Bioanalytik Oxford Mannheim UK Germany [email protected] [email protected] lxxxviii List of Contributors

KURT VON FIGURA JEFFREY C. WAGNER Department of Biochemistry Department of Neurology Georg-August-University Goettingen University of Utah School of Medicine Goettingen Salt Lake City, UT Germany USA [email protected] [email protected]

GERD E. VON UNRUH SIEGFRIED WALDEGGER Department of Internal Medicine University Children’s Hospital University of Bonn Phillips University Bonn Marburg Germany Germany [email protected] [email protected]

SÖNKE VON WEIHE Department of General-, Visceral- and Pediatric Surgery MARGARET R. WALLACE University Hospital Duesseldorf Department of Molecular Genetics and Microbiology Heinrich-Heine-University University of Florida Duesseldorf Gainesville, FL Germany USA [email protected] [email protected]

FRANÇOISE VUILLIER CARINA WALLGREN-PETTERSSON Unité d’Immuno-Hématologie et d’Immunopathologie Departments of Medical Genetics Institut Pasteur University of Helsinki and Folkhälsan Paris Helsinki France Finland [email protected] [email protected]

MARTIN WABITSCH Division of Pediatric Endocrinology and Diabetes GERD WALZ University of Ulm Department of Nephrology Ulm University Medical Center Freiburg Germany Freiburg [email protected] Germany [email protected] HANS WADENVIK Hematology Section RONALD J. A. WANDERS Department of Internal Medicine Laboratory of Genetic Metabolic Disorders Sahlgrenska University Hospital Academic Medical Center Gothenburg University of Amsterdam Sweden Amsterdam [email protected] The Netherlands [email protected] NITIN WADHANI Division of Cardiology Veterans Affairs Greater Los Angeles Healthcare System and DONG WANG The David Geffen School of Medicine at UCLA Colleen Giblin Laboratories for Pediatric Neurology Research Los Angeles, CA Department of Neurology USA Columbia University New York, NY ANTON J. M. WAGENMAKERS USA School of Sport and Exercise Sciences University of Birmingham PING WANG Birmingham The Feinstein Institute for Medical Research UK Manhasset, NY [email protected] USA [email protected] CARSTEN A. WAGNER Institute of Physiology and Zurich Center for Integrative Human Physiology XINKANG WANG University of Zurich Wyeth Research Zurich Discovery Translational Medicine Switzerland Collegeville, PA [email protected] USA List of Contributors lxxxix

DEIRDRE WARD JEANNE Y. W EI Inherited Cardiovascular Disease Group University of Arkansas for Medical Sciences, GRECC and The Heart Hospital CAVHS University College London Hospitals Little Rock, AR NHS Trust and Institute of Cardiovascular Science USA University College London [email protected] London UK JULIA WEIHRAUCH Department of Dermatology MATTHEW L. WARMAN Department of Genetics and Center for Human Genetics University Cologne Case School of Medicine Cologne Cleveland, OH Germany USA [email protected] TRACEY WEILER Division of Rheumatology HIROSHI WATANABE Cincinnati Children’s Hospital Medical Centre Division of Clinical Pharmacology Cincinnati, OH Departments of Medicine and Pharmacology USA Vanderbilt University School of Medicine [email protected] Nashville, TN USA [email protected] DAVID A. WEINSTEIN Division of Pediatric Endocrinology TIMOTHY WATSON University of Florida College of Medicine Hemostasis, Thrombosis and Vascular Biology Unit Gainsville, FL University Department of Medicine, City Hospital USA Birmingham UK LEE S. WEINSTEIN [email protected] Metabolic Diseases Branch National Institute of Diabetes, Digestive, and Kidney CHRISTOPH K. WEBER Diseases Department of Gastroenterology National Institutes of Health Clinic Sonnenhof Bethesda, MD Bern USA Switzerland [email protected] [email protected]

RAINER WEBER JEFFREY P. W EISS Department of Otorhinolaryngology Department of Urology Klinikum Karlsruhe Weill Medical College of Cornell University Karlsruhe New York, NY Germany USA [email protected]

STEFANIE WEBER GÜNTER WEISS Laboratory for Molecular Genetics Department of Internal Medicine I Department for Pediatric Nephrology Medical University Children’s University Hospital Innsbruck Heidelberg Austria Germany [email protected] WILLIAM J. WELCH Department of Medicine YVONNE G. WEBER Georgetown University Department of Neurology of the University of Ulm Washington, DC Zentrum für Klinische Forschung USA Ulm [email protected] Germany [email protected] MICHAEL WELLER PETRA WECKERLE Department of Neurology University Eye Hospital Tuebingen University Hospital Zurich Tuebingen Zurich Germany Switzerland [email protected] [email protected] xc List of Contributors

KATRIN WELT ROBERT P. W HITEHEAD Department of Dermatology and Allergology Division of Hematology/Oncology University of Ulm University of Texas Medical Branch Ulm Galveston, TX Germany USA [email protected] SHARON L. WENGER Department of Pathology West Virginia University JAMES G. WHITE Morgantown, WV Laboratory Medicine and Pathology USA University of Minnesota [email protected] Minneapolis, MN USA [email protected] MATTHIAS WENNING Clinic for Gastroenterology, Hepatology and Infectiology Heinrich-Heine-University MICHAEL P. W HYTE Duesseldorf Center for Metabolic Bone Disease and Molecular Research Germany Shriners Hospitals for Children and Department of Medicine [email protected] Washington University School of Medicine St. Louis, MO SEBASTIAN WESSELBORG USA Department of Internal Medicine I [email protected] University of Tuebingen Tuebingen Germany DAN WICHTERLE [email protected] 2nd Department of Internal Medicine 1st Medical School Charles University ANDY WESSELS Department of Cell Biology and Anatomy Prague Cardiovascular Developmental Biology Center Czech Republic Medical University of South Carolina [email protected] Charleston, SC USA RALF WIENECKE [email protected] Department of Dermatology Tuberous Sclerosis Center RAINER WESSELY Ludwig-Maximilian-University Heart Center Munich Marienhospital Germany Osnabrueck [email protected] Germany [email protected] JOLANTA WIERZBA DIRK WESTERMANN Department of Pediatrics, Hematology, Oncology and Center for Cardiovascular Research Endocrinology Charité Medical University of Gdansk Berlin Gdansk Germany Poland [email protected] [email protected].

MATTHIAS WETTSTEIN HOLGER S. WILLENBERG Internal Medicine I Department of Endocrinology, Diabetes and Rheumatology Passau Hospital University Hospital Passau Duesseldorf Germany Germany [email protected] [email protected]

DAV ID C. WHITCOMB Division of Gastroenterology, RUTH WILLIAMS Hepatology and Nutrition Department of Pediatric Neurology University of Pittsburgh The Evelina Children’s Hospital Pittsburgh, PA London USA UK [email protected] [email protected] List of Contributors xci

OLAF WITT JOSEPH I. WOLFSDORF Department of Pediatric Oncology, Hematology and Department of Endocrinology Immunology Children’s Hospital Boston University of Heidelberg Boston, MA Heidelberg USA Germany [email protected]

MARLYS H. WITTE JOHN WOLSTENHOLME Department of Surgery Institute of Human Genetics University of Arizona University of Newcastle Tucson, AZ Newcastle upon Tyne USA UK [email protected]

CRISTINA WOELLNER Division of Rheumatology and Clinical Immunology ANDREW L. WONG University Hospital Freiburg Department of Surgery Freiburg The University of Calgary Germany Calgary, AB [email protected] Canada

FENELLA WOJNAROWSKA DEREK A. WONG Department of Dermatology Childrens Hospital Los Angeles The Churchill Hospital Los Angeles, CA Oxford USA UK [email protected] [email protected]

TOM Y. W OO BARRY WOLF Department of Medicine Department of Pediatrics The Univesity of Calgary University of Connecticut School of Medicine Calgary, AB Hartford, CT Canada USA [email protected] KATIE A. WOODS Pediatric Endocrinology Section GUNTER WOLF Department of Endocrinology Department of Internal Medicine III ’ University Hospital Jena St. Bartholomew s Hospital Jena London Germany UK [email protected] TRACY J. WRIGHT HANS WOLF Institute of Medical Genetics Institute of Medical Microbiology University of Zurich University of Regensburg Schwerzenbach Regensburg Switzerland Germany [email protected] KLAUS WROGEMANN Department of Biochemistry and Medical Genetics NICOLE I. WOLF University of Manitoba Department of Pediatric Neurology Winnipeg, MN University of Heidelberg Medical Centre Canada Heidelberg [email protected] Germany

RONGQIAN WU RONNI WOLF Department of Surgery The Dermatology Unit North Shore University Hospital and Long Island Jewish Kaplan Medical Center Medical Center Rechovot Manhasset, NY Israel USA [email protected] [email protected] xcii List of Contributors

MICHAEL T. WUNDERLICH KARINA YAZDANBAKHSH Department of Neurology Laboratory of Complement Biology Otto-von-Guericke-University Magdeburg New York Blood Center Magdeburg New York, NY Germany USA [email protected] [email protected]

WIM WUYTS HUI-JUN YE Department of Medical Genetics Department of Cardiology University of Antwerp Second Xiangya Hospital Antwerp Central South University Belgium Changsha, Hunan People’s Republic of China HUI XU Institute of Endemic Diseases ORHAN YILDIZ Norman Bethune College of Medical Sciences Department of Infectious Diseases Jilin University Faculty of Medicine Changchun Erciyes University P.R. China Kayseri [email protected] Turkey [email protected] DHIRAJ YADAV Division of Gastroenterology Hepatology and Nutrition KATSUHIKO YOSHIZAWA University of Pittsburgh Drug Safety Research Laboratories Pittsburgh, PA Astellas Pharma Inc. USA Osaka [email protected] Japan [email protected]

HIROYUKI YAMAGISHI Department of Pediatrics JASON X.-J. YUAN Keio University School of Medicine Division of Pulmonary and Critical Care Medicine Tokyo Department of Medicine Japan University of California at San Diego [email protected] La Jolla, CA USA TAKASHI YAMAKI [email protected] Department of Plastic and Reconstructive Surgery ’ Tokyo Women s Medical University PIN YUE Tokyo Washington University in St. Louis School of Medicine Japan St. Louis, MI [email protected] USA

XIMING J. YANG TETSUO YUKIOKA Department of Pathology Department of Emergency and Critical Care Medicine Northwestern University Tokyo Medical University Chicago, IL Shinjuku, Tokyo USA Japan

ZHIRONG YAO Medical Mycology Laboratory ELAINE H. ZACKAI Xinhua Hospital, School of Medicine Department of Pediatrics Shanghai Jiaotong University Division of Human and Molecular Genetics Shanghai Children’s Hospital of Philadelphia China Philadelphia, PA [email protected] [email protected]

RABAH BEN YAOU EJAZ ZAIDI Inserm Elipsis Biotherapeutics Paris Toronto, ON France Canada [email protected] [email protected] List of Contributors xciii

ILSE MARIA ZALAMAN HANS-PETER ZENNER Department of Otolaryngology and Head and Neck Surgery Department of Otolaryngology and Head and Neck Surgery University of Tuebingen University of Tuebingen Tuebingen Tuebingen Germany Germany [email protected] DINA J. ZAND Department of Pediatrics, Division of Genetics and INGA ZERR Metabolism Department of Neurology Children’s National Medical Center National Reference Center for TSE Surveillance Washington, DC Georg-August University USA Goettingen [email protected] Germany [email protected] FREDERICO ZARA Muscular and Neurodegenerative Disease Unit University of Genoa KLAUS ZERRES Genoa Institute of Human Genetics Italy Aachen University of Technology Aachen CHRISTOPHER K. ZARINS Germany Division of Surgery [email protected] Stanford University School of Medicine Stanford, CA MASSIMO ZEVIANI USA Unit of Molecular Neurogenetics [email protected] National Neurological Institute “C. Besta” Milan MAYANA ZATZ Italy Human Genome Research Center, Department of Genetics [email protected] and Evolutionary Biology Institute of Biosciences University of São Paulo SHUI-PING ZHAO São Paulo Department of Cardiology, Second Xiangya Hospital Brazil Central South University Changsha, Hunan JOERG ZEHELEIN People’s Republic of China Department of Internal Medicine III [email protected] University Hospital Heidelberg Heidelberg YAOFENG ZHAO Germany Karolinska Institute, Department of Laboratory Medicine [email protected] Karolinska University Hospital Huddinge Stockholm CHRISTINA ZEITZ Sweden Institut de la Vision [email protected] Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine-INSERM Université Pierre et Marie Curie YUN ZHAO Paris Laboratory of Respiratory Biology France NIH/NIEHS [email protected] Research Triangle Park, NC USA DARRYL C. ZELDIN Laboratory of Respiratory Biology XIAOYAN ZHOU NIH/NIEHS Ochsner Clinic Foundation Research Triangle Park, NC New Orleans, LA USA USA [email protected] [email protected]

MARTIN ZENKER Institute of Human Genetics STEPHAN ZIERZ University of Erlangen-Nuremberg Department of Neurology Erlangen University of Halle-Wittenberg Germany Halle [email protected] Germany xciv List of Contributors

CHRISTIAN ZIETZ ARMIN ZITTERMANN Department of Pathology Department of Thoracic and Cardiovascular Surgery Technical University of Dresden Heart and Diabetes Center NRW Dresden Ruhr University Germany Bad Oeynhausen [email protected] Germany [email protected]

CHRISTOS C. ZOUBOULIS DIANA J. ZIMMERMANN Department of Dermatology, Venerology, Allergology and Department of Urology Immunology University of Bonn Dessau Medical Center Bonn Dessau Germany Germany [email protected]

MARC ZIMMERMANN GEORGE S. ZUBENKO Cardiovascular Department Department of Psychiatry Hôpital de La Tour School of Medicine Meyrin University of Pittsburgh Switzerland Pittsburgh, PA [email protected] USA [email protected]

ORSETTA ZUFFARDI PETER F. ZIPFEL Genetica Medica Department of Infection Biology Università di Pavia Friedrich-Schiller-University Pavia Jena Italy Germany [email protected] [email protected]

ITSHAK ZUSMAN Koret School of Veterinary Medicine, Food and BIRGIT ZIRN Environmental Quality Sciences Institute of Human Genetics Hebrew University of Jerusalem Giessen Rehovot Germany Israel [email protected] [email protected]