Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia

TheACVRL1c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients withENGmutations, but not in patients withACVRL1mutations

(2015) Ludmila Pawlikowska et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia: Imaging Features and Genotype-Phenotype Correlations

(2015) T. Krings et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

(2015) Tom G. W. Letteboer et al.   Frontiers in Genetics

Genetic variants of Adam17 differentially regulate TGF  signaling to modify vascular pathology in mice and humans

(2014) K. Kawasaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations

(2012) Takeo Nishida et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

(2012) Michael Benzinou et al.   Nature Communications

Angiopoietin-Like 4 (ANGPTL4) Gene Polymorphisms and Risk of Brain Arteriovenous Malformations

(2011) Bahar Mikhak et al.   CEREBROVASCULAR DISEASES

Reduced Expression of Integrin αvβ8 Is Associated with Brain Arteriovenous Malformation Pathogenesis

(2009) Hua Su et al.   AMERICAN JOURNAL OF PATHOLOGY

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

(2009) M. E. Faughnan et al.   JOURNAL OF MEDICAL GENETICS

Common Variants in Interleukin-1-Beta Gene Are Associated with Intracranial Hemorrhage and Susceptibility to Brain Arteriovenous Malformation

(2008) Helen Kim et al.   CEREBROVASCULAR DISEASES

Population Stratification in a Case-Control Study of Brain Arteriovenous Malformation in Latinos

(2008) Helen Kim et al.   NEUROEPIDEMIOLOGY