Associated Papers
De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
Beslow LA et al.
Pediatric Neurology, 2024
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.
Gamboa NT et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
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
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
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 haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms.
Shovlin CL et al.
Thorax, 1999
Genetic abnormalities in hereditary hemorrhagic telangiectasia.
Marchuk DA
Current Opinion in Hematology, 1998
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Gallione CJ et al.
Human Mutation, 1998
Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin.
Chan NL et al.
Placenta, 0
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