Associated Papers
Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors.
Al Tabosh T et al.
Angiogenesis, 2024
Pulmonary hypertension in hereditary haemorrhagic telangiectasia is associated with multiple clinical conditions.
Margelidon-Cozzolino V et al.
Erj Open Research, 2021
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
Giraud S et al.
Orphanet Journal of Rare Diseases, 2020
Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology.
Ruiz S et al.
Human Molecular Genetics, 2017
Diagnosis and Treatment of Hereditary Hemorrhagic Telangiectasia.
Grigg C et al.
Ochsner Journal, 2017
Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.
Major T et al.
Clinical Genetics, 2016
[Hereditary hemorrhagic telangiectasia].
Duffau P et al.
La Revue De Medecine Interne, 2014
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
Ricard N et al.
Blood, 2010
Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
Dupuis-Girod S et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
[Hereditary hemorrhagic telangiectasia].
Plauchu H et al.
La Revue Du Praticien, 2009
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Lesca G et al.
European Journal of Human Genetics : Ejhg, 2008
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Lesca G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G et al.
Human Mutation, 2006
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.
Bayrak-Toydemir P et al.
American Journal of Medical Genetics. Part A, 2006
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.
Bayrak-Toydemir P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0