Marfan Syndrome
A Primer for Clinicians and Scientists
Published on 15. November 2012
Book
Paperback/Softback
XV, 218 pages
978-1-4613-4757-6 (ISBN)
Description
Marfan Syndrome is a hereditary disorder of connective tissue which primarily affects the cardiovascular, skeletal, and ocular systems. Remarkable progress in the field has been made in both clinical and basic-science research since the discovery of the gene for fibrillin-1 (FBN1) in 1991, mutations in which cause the Marfan syndrome. Marfan Syndrome: A Primer for Clinicians and Scientists presents a comprehensive overview of clinical aspects of Marfan syndrome, FBN1 mutation analysis, the biology of fibrillin and fibrillin-containing microfibrils, and the molecular pathogenesis of the Marfan syndrome. The authors are prominent and active researchers in clinical and basic-science research on Marfan syndrome and fibrillin.
More details
Series
Edition
Softcover reprint of the original 1st ed. 2004
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Professional/practitioner
Illustrations
XV, 218 p.
Dimensions
Height: 234 mm
Width: 156 mm
Thickness: 13 mm
Weight
365 gr
ISBN-13
978-1-4613-4757-6 (9781461347576)
DOI
10.1007/978-1-4419-9013-6
Schweitzer Classification
Other editions
Additional editions
Book
11/2004
Kluwer Academic/Plenum Publishers
€160.49
Shipment within 10-15 days
Content
Introduction: Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account.- Diagnosis and Treatment of Marfan Syndrome-A Summary.- Orthopaedic Problems in Marfan Syndrome.- Ophthalmological Aspects.- Cardiovascular Aspects of the Marfan Syndrome: A Systematic Review.- Cardiovascular Surgery: Surgical Management of the Marfan Patient at the Johns Hopkins Hospital.- Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segmentsand Myocardium.- Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods, Clinical Indications.- The Marfan Mutation Database.- Familial Thoracic Aortic Aneurysms and Dissections.- Fibrillin-2 Mutations in Congenital Contractural Arachnodactyly.- Assembly of Microfibrils.- Organization and Biomechanical Properties of Fibrillin Microfibrils.- Microfibril-AssodatedGlycoprotein-1 (MAGP-1) and Other Non-Fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils.- The Fibrillins and Key Molecular Mechanisms that Initiate Disease Pathways.- Insights into Fibrillin-1 Structure and Function from Domain Studies.- Genetics of Marfan Syndrome in Mouse Models.- Appendix: Marfan Syndrome Patient Organizations.