Associated Papers
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.
Pedroza AJ et al.
Jtcvs Open, 2025
Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.
Salehi M et al.
Health Science Reports, 2025
Management of an elderly patient with nonsyndromic TGFBR1-related aortopathy: A case report.
Aono-Setoguchi H et al.
Clinical Case Reports, 2024
Case report of Loeys-Dietz syndrome presenting with coronary artery aneurysm.
Nickol JL et al.
European Heart Journal. Case Reports, 2022
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.
Murad AM et al.
American Journal of Medical Genetics. Part A, 2022
Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Ponińska JK et al.
Journal of Translational Medicine, 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
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 10 patients with features of Loeys-Dietz syndrome.
Luo M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.
Teixidó-Tura G et al.
Heart (british Cardiac Society), 2016
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V et al.
Journal of Medical Genetics, 2009
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK et al.
Human Mutation, 2006