Genome-wide association study of sporadic brain arteriovenous malformations

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

Molecular basis and genetic predisposition to intracranial aneurysm

(2014) Gerard Tromp et al.   ANNALS OF MEDICINE

Association between Polymorphisms rs1333040 and rs7865618 of Chromosome 9p21 and Sporadic Brain Arteriovenous Malformations

(2014) Carmelo Lucio Sturiale et al.   CEREBROVASCULAR DISEASES

Common variants on 9p21.3 are associated with brain arteriovenous malformations with accompanying arterial aneurysms

(2014) N. Bendjilali et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain

(2014) P H C Kremer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Prevalence of Brain Arteriovenous Malformations in First-Degree Relatives of Patients With a Brain Arteriovenous Malformation

(2014) Janneke van Beijnum et al.   STROKE

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

(2013) Whitney L. Wooderchak-Donahue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The relationship between five widely-evaluated variants in CDKN2A/B and CDKAL1 genes and the risk of type 2 diabetes: A meta-analysis

(2013) Feng Peng et al.   GENE

A Genome-Wide Investigation of Copy Number Variation in Patients with Sporadic Brain Arteriovenous Malformation

(2013) Nasrine Bendjilali et al.   PLoS One

Heritability Estimates Identify a Substantial Genetic Contribution to Risk and Outcome of Intracerebral Hemorrhage

(2013) William J. Devan et al.   STROKE

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

Polymorphisms in ACVRL1 and Endoglin Genes are Not Associated with Sporadic and HHT-Related Brain AVMs in Dutch Patients

(2012) Kim Boshuisen et al.   Translational Stroke Research

Estimating Missing Heritability for Disease from Genome-wide Association Studies

(2011) Sang Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alagille syndrome: pathogenesis, diagnosis and management

(2011) Peter D Turnpenny et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next generation genome-wide association tool: Design and coverage of a high-throughput European-optimized SNP array

(2011) Thomas J. Hoffmann et al.   GENOMICS

Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms

(2011) Marco Fontanella et al.   NEUROSURGERY

Gene Expression Profiling of Blood in Brain Arteriovenous Malformation Patients

(2011) Shantel M. Weinsheimer et al.   Translational Stroke Research

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

The rs522616 polymorphism in the matrix metalloproteinase-3 (MMP-3) gene is associated with sporadic brain arteriovenous malformation in a Chinese population

(2010) Yao Zhao et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Endothelial histamine H1 receptor signaling reduces blood-brain barrier permeability and susceptibility to autoimmune encephalomyelitis

(2010) C. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Narcolepsy is strongly associated with the T-cell receptor alpha locus

(2009) Joachim Hallmayer et al.   NATURE GENETICS

Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins

(2009) A. Vanhoutteghem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

On the Use of General Control Samples for Genome-wide Association Studies: Genetic Matching Highlights Causal Variants

(2008) Diana Luca et al.   AMERICAN JOURNAL OF HUMAN 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