Associated Papers
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.
Almpani K et al.
Journal of Medical Genetics, 2022
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Sherafati A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Yang H et al.
Orphanet Journal of Rare Diseases, 2020
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
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Genetic testing of 10 patients with features of Loeys-Dietz syndrome.
Luo M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
Campens L et al.
Orphanet Journal of Rare Diseases, 2015
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
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
Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.
Valle L et al.
Science (new York, N.y.), 2008
Molecular genetic characterization of sudden deaths due to thoracic aortic dissection or rupture.
Saxton S et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0