Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
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
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R et al.
Orphanet Journal of Rare Diseases, 2020
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.
Zhao Y et al.
Molecular Genetics & Genomic Medicine, 2019
Reduced plasma levels of Ang-2 and sEng as novel biomarkers in hereditary hemorrhagic telangiectasia (HHT).
Ojeda-Fernandez L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A et al.
Bmc Medical Genetics, 2008
18673552 (PubMed )
Supplement: 1471-2350-9-75-S2.xls › Hoja1
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
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM et al.
Human Mutation, 2006
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.
Kuehl HK et al.
Human Mutation, 2005
Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.
Brusgaard K et al.
Clinical Genetics, 2004
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.
Zhang X et al.
Pulmonary Circulation, 0
Select a paper to view details