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Retrograde Endovascular Treatment of Internal Iliac Aneurysm in a Patient with Marfan Syndrome
(B C Decker Inc, 2010-07-01)
To report a technique to maintain pelvic flow to an internal iliac artery (IIA) with aneurysm in a patient with Marfan syndrome, and previously treated by infrarenal abdominal aortic aneurysm open procedure. Retrograde ...
Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients
(1997-10-17)
Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan- ...
Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome
(Associação Brasileira de Divulgação Científica, 2011-08-01)
Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been ...
Efeito de um programa de exercício físico em portador da Síndrome Marfan com disfunção ventricular
(Sociedade Brasileira de Cardiologia - SBC, 2012-04-01)
Marfan syndrome (MS) is an autosomal dominant disorder that affects multiple organs and systems. Several cardiac alterations are present, with the main ones being aortic root and ascending aorta dilatation, mitral valve ...
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
(Biomed Central Ltd, 2012-01-19)
Background: the majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular ...
Modified 'Stent-Graft Sandwich' Technique for Treatment of Isolated Common Iliac Artery Aneurysm in Patient With Marfan Syndrome
(Elsevier B.V., 2012-04-01)
Isolated iliac artery aneurysms are rare in the general population (0.03%) and represent 2% of all abdominal aneurysms, and the association with Marfan syndrome is even rarer. We report a Marfan syndrome case with an ...
Variação da acuidade visual em pacientes jovens com ectopia lentis submetidos à cirurgia
(Conselho Brasileiro de Oftalmologia, 2005-08-01)
PURPOSE: To assess the results as to visual acuity of two different surgical procedures for ectopia lentis. METHODS: Fifty-one eyes of 28 patients (16 males and 12 females, mean age 16.00± 8.5) with simple (19 cases) or ...
Marfan Database (third edition): new mutations and new routines for the software
(Oxford Univ Press, 1998-01-01)
The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with ...