Associated Papers
GNAQ-/GNA14-mutated hepatic vascular malformation with capillary proliferation in adults and children.
Fischer AK et al.
Human Pathology, 2025
Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.
Jaimes-Díaz S et al.
Diagnostics (basel, Switzerland), 2024
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
Deciphering the vascular labyrinth: role of microRNAs and candidate gene SNPs in brain AVM development - literature review.
Florian IA et al.
Neurological Research, 2020
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort.
Koenighofer M et al.
Clinical and Experimental Otorhinolaryngology, 2019
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension.
Pousada G et al.
Bmc Genetics, 2016
Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil.
Franciscatto AC et al.
Cureus, 2016
The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.
Pawlikowska L et al.
American Journal of Medical Genetics. Part A, 2015
Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.
Boshuisen K et al.
Translational Stroke Research, 2013
[Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].
Liu C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand?
Sturiale CL et al.
Brain : a Journal of Neurology, 2013
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.
Sadick H et al.
Bmc Medical Genetics, 2009
Identifying common genetic variants by high-resolution melting.
Vandersteen JG et al.
Clinical Chemistry, 2007
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
ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.
Howe JR et al.
Clinical Genetics, 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
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.
Pawlikowska L et al.
Stroke, 2005
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.
Abdalla SA et al.
Human Mutation, 2005
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Gallione CJ et al.
Lancet (london, England), 2004