Associated Papers
Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.
Abu-Sailik F et al.
Frontiers in Cell and Developmental Biology, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
Shah M et al.
Journal of Paediatrics and Child Health, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Sakai H et al.
Human Genetics, 2012
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.
Ben Amor IM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.
Chen J et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY et al.
Human Mutation, 2008
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms.
Pannu H et al.
Annals of the New York Academy of Sciences, 2006
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
Sakai H et al.
American Journal of Medical Genetics. Part A, 2006
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
Ki CS et al.
Clinical Genetics, 2005