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A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.
(Universidad del Zulia, 2017)
Avaliação espirométrica e cardiovascular em pacientes portadores da síndrome de Marfan
(Universidade Federal de São Paulo (UNIFESP), 2010-09-29)
Background: Marfan syndrome (MS) is a dominant autosomal connective tissue disease that impacts multiple systems, such as the musculoskeletal, ocular, cardiovascular, pulmonary, tegumentary and neurological. This mutation ...
Isolated mitral valve prolapse is an independent predictor of aortic root size in a general population
(Oxford Univ PressOxfordInglaterra, 2010)
Deficiency in microfibril-associated glycoprotein-1 leads to complex phenotypes in multiple organ systems
(Amer Soc Biochemistry Molecular Biology IncBethesdaEUA, 2008)
A new mouse model for Marfan Syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression
(San Francisco, 2010)
Marfan syndrome is an autosomal dominant disease of connective tissue caused by mutations in the fibrillin-1 encoding gene FBN1. Patients present cardiovascular, ocular and skeletal manifestations, and although being fully ...
A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression
(PUBLIC LIBRARY SCIENCE, 2010)
Marfan syndrome is an autosomal dominant disease of connective tissue caused by mutations in the fibrillin-1 encoding gene FBN1. Patients present cardiovascular, ocular and skeletal manifestations, and although being fully ...
Manuseio da dissecção aórtica envolvendo artéria coronária direita
(Sociedade Brasileira de Cirurgia Cardiovascular, 1998-04-01)
It is well known that aortic dissection may involve coronary arteries. However, only a few reports deal with surgical management of this problem. We present the report of the follow-up of 11 patients who suffered from ...
Operação de Bentall e De Bono para correção das doenças da raiz aórtica: análise de resultados a longo prazo
(Sociedade Brasileira de Cirurgia Cardiovascular, 2008-06-01)
OBJECTIVE: A retrospective study was perfomed in a series of consecutive patients who underwent a Bentall and De Bono procedure. Methods: Data were removed of medical records and follow-up data were obtained from clinical ...