Associated Papers
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
38202257 (PubMed )
Supplement: jcm-13-00250-s001.zip › jcm-2748090-supplementary.pdf
Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease).
Umemura H et al.
Acta Medica Okayama, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.
Townson SA et al.
The Journal of Biological Chemistry, 2012
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.
Scotti C et al.
Plos One, 2011
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 haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G et al.
Human Mutation, 2006
Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.
Giordano P et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM et al.
Human Mutation, 2006
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.
Olivieri C et al.
Journal of Medical Genetics, 2002
Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1.
Lux A et al.
The Journal of Biological Chemistry, 1999
Genetic abnormalities in hereditary hemorrhagic telangiectasia.
Marchuk DA
Current Opinion in Hematology, 1998
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