Associated Papers
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME et al.
Blood, 2024
[Brain abscess as a complication of pulmonary manifestation of HHT].
Müller MC et al.
Innere Medizin (heidelberg, Germany), 2024
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: clinical features in ENG and ALK1 mutation carriers.
Sabbà C et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM et al.
Human Mutation, 2006
Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and brain abscess.
Gallitelli M et al.
Respiration; International Review of Thoracic Diseases, 2006
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
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