Molecular pathogenesis of Marfan syndrome

CJA Ramachandra, A Mehta, KWQ Guo, P Wong… - International journal of …, 2015 - Elsevier
Marfan syndrome (MFS) is a genetic disorder that affects multiple organs. Mortality imposed
by aortic aneurysm and dissections represent the most serious clinical manifestation of MFS …

Genotype–phenotype correlations in Marfan syndrome

BJ Landis, GR Veldtman, SM Ware - Heart, 2017 - heart.bmj.com
Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder associated
with abnormalities of the cardiovascular, ocular and musculoskeletal systems. Aortopathy …

Aortopathy in Marfan syndrome: an update

F Romaniello, D Mazzaglia, A Pellegrino… - Cardiovascular …, 2014 - Elsevier
Marfan syndrome (MFS) is an inherited autosomal dominant multisystem disease caused by
mutations in the FBN1 gene encoding fibrillin-1, an extracellular matrix glycoprotein widely …

Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?

Y Von Kodolitsch, M Rybczynski… - VASA …, 2010 - econtent.hogrefe.com
Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an
autosomal dominant fashion and that is classically caused by mutations in the gene coding …

[HTML][HTML] Precise therapy for thoracic aortic aneurysm in marfan syndrome: a puzzle nearing its solution

E Rurali, GL Perrucci, CA Pilato, A Pini… - Progress in …, 2018 - Elsevier
Marfan Syndrome (MFS) is a rare connective tissue disorder, resulting from mutations in the
fibrillin-1 gene, characterized by pathologic phenotypes in multiple organs, the most …

Marfan syndrome

DM Milewicz, AC Braverman, J De Backer… - Nature reviews Disease …, 2021 - nature.com
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant
condition with substantial intrafamilial and interfamilial variability. MFS is caused by …

[HTML][HTML] The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

VM Becerra-Muñoz, JJ Gómez-Doblas… - Orphanet journal of rare …, 2018 - Springer
Background Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in
which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) …

Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall

GL Perrucci, E Rurali, A Gowran, A Pini… - Cellular and Molecular …, 2017 - Springer
Marfan syndrome (MFS) is a connective tissue disorder with multiple organ manifestations.
The genetic cause of this syndrome is the mutation of the FBN1 gene, encoding the …

The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?

B Loeys - European Heart Journal, 2016 - academic.oup.com
Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder with
the main manifestations in the skeletal (overgrowth), ocular (ectopia lentis), and …

The translational science of Marfan syndrome

G Jondeau, JB Michel, C Boileau - Heart, 2011 - heart.bmj.com
Marfan syndrome has changed over the last few years: new diagnostic criteria have been
proposed, new clinical entities recognised and life expectancy increased. The role of fibrillin …