Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
Sirisomboonwong KE et al.
American Journal of Medical Genetics. Part A, 2018
Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.
Cho SY et al.
Gastroenterology, 2017
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.
Teixidó-Tura G et al.
Heart (british Cardiac Society), 2016
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M et al.
Human Mutation, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
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