Associated Papers
De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
Beslow LA et al.
Pediatric Neurology, 2024
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
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution.
Saleh M et al.
Pediatric Neurology, 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
Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia.
Thomas B et al.
European Journal of Clinical Investigation, 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
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1.
Letarte M et al.
Cardiovascular Research, 2005
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
Genetic abnormalities in hereditary hemorrhagic telangiectasia.
Marchuk DA
Current Opinion in Hematology, 1998
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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