Results 131 to 140 of about 3,631,363 (269)
Phenotypic variation in the expression of Marfan syndrome and the relationship to age
, 2008 This research has provided an analysis of how the issue of age is related to the expression of specific symptoms characteristic of the genetic disorder known as Marfan syndrome.
Burnitz, Kristopher K.
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Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia
Lung India, 2009 We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor.
Kate A, Gothi D, Joshi J
doaj
American journal of ophthalmology-glaucoma, 2017 PURPOSE To report on the biometric findings of adults and children with Marfan syndrome (MFS) recruited from 2 annual National Marfan Foundation conferences (2012 and 2015). DESIGN Cross-sectional study.
M. Kinori +5 more
semanticscholar +1 more source
Revista Ciências em Saúde, 2014 Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi ...
Eduardo Tadeu Ramos Almeida +2 more
doaj +1 more source
Mutation Spectrum of the Fibrillin-1 (Fbn1) Gene in Taiwanese Patients with Marfan Syndrome
, 2010 P>The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population.
HUNG, CHIA-CHENG;LEE, CHIEN-NAN;CHENG, HUI-YU;LIN, SHUAN-PEI;CHEN, MING-REN;CHEN, CHIH-PING;CHANG, CHIEN-HUI;YU, CHIH- CHIEH;CHIU, HSIN-HUI;CHENG, WEN-FANG;HO, HONG-NERNG;NIU, DAU-MING;SU, YI-NING +1 more
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What is new in the Marfan syndrome?
, 2004 The Marfan syndrome is an autosomal dominant disorder of connective tissue, caused by mutations in the FBN1 gene on chromosome 15. More than 500 mutations have been identified and almost all are unique to an affected individual or family.
Nollen, G. J., Mulder, B. J. M.
core +1 more source
Stem Cell ResearchMarfan syndrome is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular systems. Here, we generated and characterized induced pluripotent stem cell (iPSC) lines derived from two Marfan syndrome patients with mutations in the ...
Byron W.H. Mui +4 more
doaj +1 more source
Pathogenesis of aortic wall complications in Marfan syndrome.
Cardiovascular pathology, 2018 BACKGROUND Patients with Marfan (MFS) syndrome and patients with a bicuspid aortic valve (BAV) are more prone to develop aortic dilation and dissection compared to persons with a tricuspid aortic valve (TAV).
N. Grewal, A. G. Gittenberger-de Groot
semanticscholar +1 more source
Determinants of fatigue in patients with Marfan syndrome: a study using PROMS
Orphanet Journal of Rare DiseasesBackground Fatigue is often reported by individuals with Marfan syndrome (MFS). However, the determinants of fatigue and its impact on the daily lives of patients with MFS remain poorly understood.
Ines Cavalier +7 more
doaj +1 more source
Marfan syndrome. Report of a patient
Acta Médica del Centro, 2015 Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or
Luis Alberto Santos Pérez +2 more
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