Associated Papers
Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.
Qin G et al.
Frontiers in Cardiovascular Medicine, 2025
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
Multi-organ hereditary hemorrhagic telangiectasia: A case report.
Chen YL et al.
World Journal of Clinical Cases, 2023
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.
Zhao Y et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.
Yang H et al.
Respiratory Research, 2018
Genome-wide RNAi screen reveals ALK1 mediates LDL uptake and transcytosis in endothelial cells.
Kraehling JR et al.
Nature Communications, 2016
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
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
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A et al.
Bmc Medical Genetics, 2008
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
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
Gedge F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
Olivieri C et al.
Journal of Human Genetics, 2007
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 2005
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.
Abdalla SA et al.
Journal of Medical Genetics, 2003