Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants.
Shovlin CL et al.
American Journal of Human Genetics, 2025
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME et al.
Blood, 2024
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.
Kim BG et al.
Clinical and Experimental Otorhinolaryngology, 2021
Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.
Major T et al.
Journal of Clinical Medicine, 2021
A novel endoglin mutation in a family with hereditary hemorrhagic telangiectasia: a case report.
Zong Y et al.
Translational Pediatrics, 2021
Founder Effects in Hereditary Hemorrhagic Telangiectasia.
Major T et al.
Journal of Clinical Medicine, 2021
A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
[Hereditary hemorrhagic telangiectasia: a report of two cases].
Huang Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
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
Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.
Kim D et al.
Neurointervention, 2019
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
Heimdal K et al.
Clinical Genetics, 2016
Life-Threatening Oral Bleed—A Rare Presentation of Hereditary Hemorrhagic Telangiectasia.
Ahamed SK et al.
Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons, 2015
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.
Canzonieri C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.
Tørring PM et al.
Plos One, 2014
HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.
Lux A et al.
Orphanet Journal of Rare Diseases, 2013
Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.
Govani FS et al.
Molecular Syndromology, 2013
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.
Lee ST et al.
Journal of Korean Medical Science, 2009
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
Brakensiek K et al.
Clinical Genetics, 2008
Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia.
Thomas B et al.
European Journal of Clinical Investigation, 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
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
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G et al.
Human Mutation, 2006
Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia.
Olivieri C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 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
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.
Cymerman U et al.
Human Mutation, 2003
Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.
van den Driesche S et al.
Cardiovascular Research, 2003
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.
Bayrak-Toydemir P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0