Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.
About F et al.
Frontiers in Genetics, 2019
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.
Vattulainen S et al.
Molecular Genetics & Genomic Medicine, 2015
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
Coronary telangiectasia associated with hypertrophic cardiomyopathy.
Frustaci A et al.
European Journal of Heart Failure, 2012
Variation in telangiectasia predisposing genes is associated with overall radiation toxicity.
Tanteles GA et al.
International Journal of Radiation Oncology, Biology, Physics, 2012
TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients.
Koumakis E et al.
Annals of the Rheumatic Diseases, 2012
A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.
Suzuki A et al.
Thrombosis Research, 2012
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A et al.
Bmc Medical Genetics, 2008
Identifying common genetic variants by high-resolution melting.
Vandersteen JG et al.
Clinical Chemistry, 2007
ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.
Howe JR et al.
Clinical Genetics, 2007
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.
Pawlikowska L et al.
Stroke, 2005
Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.
van den Driesche S et al.
Cardiovascular Research, 2003