Results 101 to 110 of about 35,038 (256)
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. [PDF]
, 2016 Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1.
Bernard, William George +6 more
core +1 more source
Hereditary hypofibrinogenemia: A rare cause of chronic liver disease
JPGN Reports, Volume 6, Issue 4, Page 524-526, November 2025.Abstract Hypofibrinogenemia is characterized by low levels of fibrinogen with patients commonly presenting asymptomatically. This report discusses a case of hereditary hypofibrinogenemia manifesting as chronic liver disease in a 2‐year‐old male who was evaluated for elevated liver enzymes and skin/soft tissue bleeding.
Hannah Caringal +4 more
wiley +1 more source
Zdravniški Vestnik, 2005 Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
doaj
Síndrome de Marfan revisitada – da genética à clínica
Revista Portuguesa de Cardiologia, 2020 Resumo: A síndrome de Marfan é uma doença autossómica dominante do tecido conjuntivo, com uma incidência estimada de um em 5000 indivíduos. Em 90% dos casos resulta de mutações do gene da fibrilina‐1, principal componente das microfibrilas da matriz ...
Sónia Gomes Coelho, Ana G. Almeida
doaj +1 more source
Effects of Age, Sex, and Extracellular Matrix Integrity on Aortic Dilatation and Rupture in a Mouse Model of Marfan Syndrome [PDF]
, 2023 Dar Weiss +6 more
openalex +1 more source
Marfan syndrome and pregnancy: maternal and neonatal outcomes [PDF]
, 2014 Objective To report outcomes in a recent series of pregnancies in women with Marfan syndrome (MFS). Design Retrospective case note review. Setting Tertiary referral unit (Chelsea and Westminster and Royal Brompton Hospitals).
Babu-Narayan, SV +7 more
core +1 more source
MARFAN SYNDROME PRESENTING WITH BILATERAL RETINAL DETACHMENT
National Journal of Medical Research, 2014 Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal
Subrata Chakrabarti, Koushik Pan
doaj
Anthropometric and musculoskeletal assessment of patients with Marfan syndrome [PDF]
, 2011 CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando flacidez nos ligamentos ...
Brech, Guilherme Carlos +5 more
core +6 more sources
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome [PDF]
, 2014 BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS.
Ahmad Sajadieh +11 more
core +1 more source
Journal of Vascular Surgery Cases and Innovative Techniques, 2018 Internal mammary artery (IMA) aneurysms are very rare, have a high risk of rupture, and can cause hemothorax. Here, we report the case of a 33-year-old man with metachronal and bilateral IMA aneurysms. He had Marfan syndrome diagnosed by genetic testing.
Toshiki Fujiyoshi, MD +3 more
doaj +1 more source