Marfan Syndrome - Robinson, Peter N. / Godfrey, Maurice (eds.)
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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…mehr

Produktbeschreibung
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.
  • Produktdetails
  • Medical Intelligence Unit
  • Verlag: Springer Netherlands
  • 2004
  • Seitenzahl: 232
  • Erscheinungstermin: Dezember 2004
  • Englisch
  • Abmessung: 235mm x 157mm x 19mm
  • Gewicht: 542g
  • ISBN-13: 9780306482380
  • ISBN-10: 030648238X
  • Artikelnr.: 13904501
Autorenporträt
Peter N. Robinson, Universitätsklinikum Charité, Berlin, Germany
Inhaltsangabe
The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account.
Diagnosis and Treatment of Marfan Syndrome
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 Segments and 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
Associated Glycoprotein
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.