- •CONTENTS
- •EDITORS
- •PREFACE
- •INTRODUCTION
- •2. Orthopaedic Problems in Marfan Syndrome
- •3. Ophthalmological Aspects
- •8. The Marfan Mutation Database
- •11. Assembly of Microfibrils
- •14. The Fibrillins and Key Molecular Mechanisms that Initiate Disease Pathways
- •15. Insights into Fibrillin-1 Structure and Function from Domain Studies
- •16. Genetics of Marfan Syndrome in Mouse Models
- •Index
EDITORS
Peter N. Robinson, M.D. Institute of Medical Genetics Charité University Hospital
Humboldt University
Berlin, Germany peter.robinson@charite.de
Chapter 1
Maurice Godfrey, Ph.D.
Department of Pediatrics and Center
for Human Molecular Genetics
Munroe-Meyer Institute
University of Nebraska Medical Center
Omaha, Nebraska, U.S.A.
mgodfrey@unmc.edu
Chapter 10
CONTRIBUTORS
Emilio Arteaga-Solis
Department of Pediatrics
Mount Sinai School of Medicine
New York University
New York, New York, U.S.A.
Chapter 16
Clair Baldock
Wellcome Trust Centre
for Cell-Matrix Research
Schools of Medicine
and Biological Sciences
University of Manchester
Manchester, United Kingdom
Chapter 12
Frank Barthel
German Heart Institute Berlin
Berlin, Germany
Chapter 6
Boris Bätge
Klinikum Neustadt
Neustadt, Germany
Catherine Boileau INSERM
Clinique Maurice Lamy
Hôpital Necker-Enfants Malades Paris, France
E-mail: boileau@necker.fr
Chapter 8
Duke E. Cameron Division of Cardiac Surgery
and the Dana and Albert “Cubby” Broccoli Center for Aortic Diseases
Johns Hopkins Medical Insitution Baltimore, Maryland, U.S.A. E-mail: dcameron@jhmi.edu
Chapter 5
Anne H. Child
Department of Cardiological Sciences St George’s Hospital Medical School London, United Kingdom
E-mail: achild@sghms.ac.uk
Chapter 1
Chapter 11
Gwenaëlle Collod-Béroud |
Penny A. Handford |
Laboratoire de Génétique Moléculaire |
Division of Molecular |
Institut Universitaire de Recherche |
and Cellular Biochemistry |
Clinique |
Department of Biochemistry |
Montpellier, France |
University of Oxford |
E-mail: gwenaelle.beroud@igh.cnrs.fr |
Oxford, United Kingdom |
Chapter 8 |
Chapter 15 |
Paul Coucke |
Sumera N. Hasham |
Ghent University Hospital |
University of Texas Medical School |
Department Medical Genetics |
at Houston |
Gent, Belgium |
Houston, Texas, U.S.A. |
Chapter 7 |
Chapter 9 |
Anne De Paepe |
J. Louise Haston |
Ghent University Hospital |
Wellcome Trust Centre |
Department Medical Genetics |
for Cell-Matrix Research |
Gent, Belgium |
Schools of Medicine |
E-mail : Anne.DePaepe@UGent.be |
and Biological Sciences |
Chapter 7 |
University of Manchester |
|
Manchester, United Kingdom |
Harry Dietz |
Chapter 12 |
Departments of Pediatrics, Medicine |
|
and Molecular Biology and Genetics |
Roland Hetzer |
Howard Hughes Medical Institute |
German Heart Institute Berlin |
John Hopkins University School |
Berlin, Germany |
of Medicine |
Chapter 6 |
Baltimore, Maryland, U.S.A. |
Cay M. Kielty |
Chapter 16 |
|
|
Wellcome Trust Centre |
Mark A. Gibson |
for Cell-Matrix Research |
Department of Pathology |
Schools of Medicine |
University of Adelaide |
and Biological Sciences |
Adelaide, South Australia, Australia |
University of Manchester |
E-mail: mark.gibson@adelaide.edu.au |
Manchester, United Kingdom |
Chapter 13 |
Chapter 12 |
Vincent L. Gott |
Bart Loeys |
Division of Cardiac Surgery |
Ghent University Hospital |
and the Dana and Albert “Cubby” |
Department Medical Genetics |
Broccoli Center for Aortic Diseases |
Gent, Belgium |
Johns Hopkins Medical Insitution |
Chapter 7 |
Baltimore, Maryland, U.S.A. |
|
E-mail: vgott@csurg.jhmi.jhu.edu |
|
Chapter 5
Victor A. McKusick
Institute of Medical Genetics
Johns Hopkins University School
of Medicine
Baltimore, Maryland, U.S.A.
Introduction
Dianna M. Milewicz
University of Texas Medical School
at Houston
Houston, Texas, U.S.A.
Dianna.M.Milewicz@uth.tmc.edu
Chapter 9
Luitgard Neumann
Institute of Human Genetics
Charité University Hospital
Humboldt University
Berlin, Germany
Chapter 1
Reinhard Pregla
German Heart Institute Berlin
Berlin, Germany
Chapter 6
Francesco Ramirez Laboratory of Genetics
and Organogenesis Hospital for Special Surgery
at Weill Medical College of Cornell University
New York, New York, U.S.A. E-mail: ramirezf@hss.edu
Chapter 16
Dieter P. Reinhardt Universität zu Lübeck Institut für Medizinische
Molekularbiologie Lübeck, Germany
E-mail: reinhardt@molbio.uni-luebeck.de
Chapter 11
Thomas Rosenberg Gordon Norrie Centre
for Genetic Eye Diseases National Eye Clinic
for the Visually Impaired Hellerup, Denmark E-mail: roseeye@visaid.dk
Chapter 3
Maike Rybczynski
Clinic of Internal Medicine III
University Hospital
Hamburg-Eppendorf
Hamburg, Germany
Chapter 4
Lynn Y. Sakai
Shriners Hospital for Children Oregon Health and Science University Portland, Oregon, U.S.A.
E-mail: LYS@SHCC.org
Chapter 14
Michael J. Sherratt
Wellcome Trust Centre
for Cell-Matrix Research
Schools of Medicine
and Biological Sciences
University of Manchester
Manchester, United Kingdom
Chapter 12
Michael Shindle
Department of Orthopaedic Surgery
The Johns Hopkins Hospital
Baltimore, Maryland, U.S.A.
Chapter 2
C. Adrian Shuttleworth
Wellcome Trust Centre
for Cell-Matrix Research
Schools of Medicine
and Biological Sciences
University of Manchester
Manchester, United Kingdom
Chapter 12
Paul Sponseller
Department of Orthopaedic Surgery The Johns Hopkins Hospital Baltimore, Maryland, U.S.A. E-mail: psponse@jhmi.edu
Chapter 2
Kerstin Tiedemann
Universität zu Lübeck
Institut für Medizinische
Molekularbiologie
Lübeck, Germany
Chapter 11
Yskert von Kodolitsch
Clinic of Internal Medicine III University Hospital
Hamburg-Eppendorf Hamburg, Germany
E-mail: kodolitsch@uke.uni-hamburg.de
Chapter 4
Tim J. Wess
Centre for Extracellular Matrix Biology Department of Biological Sciences University of Stirling
Stirling, United Kingdom
Chapter 12
Pat Whiteman
Division of Molecular
and Cellular Biochemistry
Department of Biochemistry
University of Oxford
Oxford, United Kingdom
Chapter 15
