Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

1998 • 1,692 citations

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

2005 • 1,683 citations

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

2006 • 1,558 citations

Marfan's syndrome

2005 • 1,128 citations

Heterozygous TGFBR2 mutations in Marfan syndrome

2004 • 605 citations

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

2007 • 554 citations

TGFBR1andTGFBR2mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome

2006 • 194 citations

A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

1994 • 176 citations

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

2003 • 150 citations

Molecular genetics of Marfan syndrome

2005 • 136 citations

Identification and in silico analyses of novelTGFBR1 andTGFBR2 mutations in Marfan syndrome-related disorders

2006 • 107 citations

FBN1, TGFBR1, and the Marfan‐craniosynostosis/mental retardation disorders revisited

2006 • 87 citations

Aneurysm Syndromes Caused By Mutations In The TGF-Beta Receptor

2006 • 79 citations

Genetic basis of thoracic aortic aneurysms and aortic dissections

2005 • 73 citations

Shprintzen-Goldberg syndrome: A clinical analysis

1998 • 70 citations

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes

2006 • 68 citations

X‐linked mental retardation with marfanoid habitus

1987 • 56 citations

Phenotypic Heterogeneity of Marfan-Like Connective Tissue Disorders Associated With Mutations in the Transforming Growth Factor-.BETA. Receptor Genes

2007 • 51 citations

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

2007 • 27 citations

X‐linked mental retardation with Marfanoid habitus

1991 • 20 citations

Shprintzen‐Goldberg syndrome: A clinical analysis

1998 • 10 citations