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
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S et al.
Nature Communications, 2023
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.
Zhao S et al.
Biorxiv : the Preprint Server for Biology, 2023
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.
Twombly V et al.
Genetics, 2009
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
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD et al.
Human Mutation, 2006
Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia.
Gu Y et al.
Blood, 2006
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Disease-associated mutations in conserved residues of ALK-1 kinase domain.
Abdalla SA et al.
European Journal of Human Genetics : Ejhg, 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
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
Abdalla SA et al.
Human Molecular Genetics, 2000
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