Associated Papers
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
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
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
Cousin MA et al.
Cold Spring Harbor Molecular Case Studies, 2017
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
Zimmermann MT et al.
Plos One, 2017
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
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).
Maleszewski JJ et al.
The American Journal of Surgical Pathology, 2009
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
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Disabella E et al.
European Journal of Human Genetics : Ejhg, 2006
[Genetic testing for Marfan syndrome].
Mizuguchi T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2005
Molecular genetics of Marfan syndrome.
Boileau C et al.
Current Opinion in Cardiology, 2005
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.
Milewicz DM
Current Opinion in Cardiology, 1998