Associated Papers
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.
Extramiana F et al.
Scientific Reports, 2018
30158670 (PubMed )
Supplement: 41598_2018_31298_MOESM1_ESM.pdf
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.
Renard M et al.
Plos One, 2014
24587008 (PubMed )
Supplement: pone.0089749.s003.xlsx › Sheet1
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
Yang JH et al.
Journal of Human Genetics, 2012
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Attias D et al.
Circulation, 2009
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C et al.
Human Mutation, 2008
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