Marfan Syndrome

Known as: Syndrome, Marfan's, Marfan's Syndrome, Marfans Syndrome 
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations… (More)

Topic mentions per year

Topic mentions per year

1944-2017
020040019442016

Papers overview

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Highly Cited
2011
Highly Cited
2011
Transforming growth factor-β (TGFβ) signaling drives aneurysm progression in multiple disorders, including Marfan syndrome (MFS… (More)
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Highly Cited
2010
Highly Cited
2010
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert… (More)
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Highly Cited
2006
Highly Cited
2006
Aortic aneurysm and dissection are manifestations of Marfan syndrome (MFS), a disorder caused by mutations in the gene that… (More)
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Highly Cited
2004
Highly Cited
2004
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems… (More)
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Highly Cited
2004
Highly Cited
2004
Mitral valve prolapse (MVP) is a common human phenotype, yet little is known about the pathogenesis of this condition. MVP can… (More)
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Highly Cited
2003
Highly Cited
2003
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in… (More)
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Highly Cited
1996
Highly Cited
1996
In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et… (More)
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Highly Cited
1995
Highly Cited
1995
Data reported in 1972 indicated that lifespan in patients with the Marfan syndrome is markedly shortened, and that most deaths… (More)
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Highly Cited
1991
Highly Cited
1991
Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It… (More)
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Highly Cited
1991
Highly Cited
1991
Marfan syndrome (MFS), one of the most common genetic disorders of connective tissue, is characterized by skeletal… (More)
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