Associated Papers
Transforming Growth Factor-β and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.
van Dorst DCH et al.
Cardiovascular Drugs and Therapy, 2021
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.
Arnaud P et al.
Frontiers in Genetics, 2021
Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall.
Perrucci GL et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.
Maeda J et al.
Heart and Vessels, 2016
Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome.
Uriarte JJ et al.
Plos One, 2016
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki K et al.
American Journal of Medical Genetics. Part A, 2006
Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome.
Summers KM et al.
American Journal of Medical Genetics. Part A, 2005
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.
Judge DP et al.
The Journal of Clinical Investigation, 2004
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F et al.
European Journal of Human Genetics : Ejhg, 2001
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
Schrijver I et al.
American Journal of Human Genetics, 1999
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
Zeyer KA et al.
Mutation Research. Reviews in Mutation Research, 0
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