Marfan syndrome: what internists and pediatric or adult cardiologists need to know

H Kaemmerer, E Oechslin, H Seidel… - Expert review of …, 2005 - Taylor & Francis
Marfan syndrome (MFS) is one of the most frequent connective tissue disorders, showing
striking pleiotropism and clinical variability. There is autosomal dominant inheritance with …

Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders

LG Gao, F Luo, RT Hui, XL Zhou - Ageing research reviews, 2010 - Elsevier
Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant
inheritance. Advances in medicine and surgery have increased the average lifespan of …

Circulating transforming growth factor-β as a prognostic biomarker in Marfan syndrome

R Franken, AW den Hartog, V de Waard… - International journal of …, 2013 - Elsevier
Abstract Background Patients with Marfan syndrome (MFS) are at risk for cardiovascular
disease. Marfan associated mutations in the FBN1 gene lead to increased transforming …

Marfan syndrome: Progress report

R Franken, AW den Hartog, M Singh, G Pals… - Progress in Pediatric …, 2012 - Elsevier
Marfan syndrome is a multi-system connective tissue disorder, with primary involvement of
the cardiovascular, ocular and skeletal systems. This autosomal heritable disease is mainly …

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

S Waldmüller, M Müller, H Warnecke… - European Journal of …, 2007 - academic.oup.com
Objective: Mutations in the genes encoding fibrillin-1 (FBN1) and transforming growth factor
beta receptor type II (TGFBR2) are known causes of Marfan syndrome (MFS) and related …

Glycoproteomic analysis of the aortic extracellular matrix in Marfan patients

X Yin, S Wanga, AL Fellows… - … , and vascular biology, 2019 - Am Heart Assoc
Objective: Marfan syndrome (MFS) is caused by mutations in FBN1 (fibrillin-1), an
extracellular matrix (ECM) component, which is modified post-translationally by …

[PDF][PDF] Cardiac complications in Marfan syndrome: a review

J Singh, A Wanjari - Cureus, 2022 - cureus.com
Marfan syndrome (MFS) is a rare inherited disorder of the connective tissue with an
autosomal dominant mode of inheritance which happens as a result of a mutation in the …

Human Genome and Diseases:¶ The molecular pathogenesis of the Marfan syndrome

PN Robinson, P Booms - Cellular and Molecular Life Sciences CMLS, 2001 - Springer
The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective
tissue with highly variable clinical manifestations including aortic dilatation and dissection …

Genetic dissection of Marfan syndrome and related connective tissue disorders: an update 2012

S Hoffjan - Molecular Syndromology, 2012 - karger.com
Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue
characterized by early development of thoracic aortic aneurysms/dissections together with …

Diagnosis and treatment of Marfan syndrome: an update

RM Radke, H Baumgartner - Heart, 2014 - heart.bmj.com
Marfan syndrome (MFS) is a connective tissue disease inherited in an autosomal dominant
fashion and associated with a decreased life expectancy. Skeletal features as well as a …