Associated Papers
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME et al.
Blood, 2024
38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf
Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.
Major T et al.
Journal of Clinical Medicine, 2021
Founder Effects in Hereditary Hemorrhagic Telangiectasia.
Major T et al.
Journal of Clinical Medicine, 2021
Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.
Major T et al.
Clinical Genetics, 2016
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
Tørring PM et al.
Clinical Genetics, 2014
[Hereditary haemorrhagic telangiectasia diagnosed in connection with a traffic accident].
Sivapalan P et al.
Ugeskrift for Laeger, 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
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Lesca G et al.
European Journal of Human Genetics : Ejhg, 2008
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
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia.
Kjeldsen AD et al.
Journal of Internal Medicine, 2005
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