2024
APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation
Renedo D, Rivier C, Koo A, Sujijantarat N, Clocchiatti-Tuozzo S, Wu K, Torres-Lopez V, Huo S, Gunel M, de Havenon A, Sheth K, Matouk C, Falcone G. APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation. JAMA Network Open 2024, 7: e2355368. PMID: 38363572, PMCID: PMC10873768, DOI: 10.1001/jamanetworkopen.2023.55368.Peer-Reviewed Original ResearchConceptsApolipoprotein E e4Participants of European ancestryRisk of intracerebral hemorrhageHigh risk of intracerebral hemorrhageCross-sectional studyUK BiobankEuropean ancestryHigh riskUs Research ProgramUK Biobank participantsInternational Classification of DiseasesAssociated with higher risk of ICHCross-sectional study of patientsAPOE e4 statusClassification of diseasesApolipoprotein ENinth Revision and Tenth RevisionAssociated with higher riskIndividual-level dataMultivariate logistic regressionIntracerebral hemorrhage riskBrain arteriovenous malformationsIntracerebral hemorrhageBiobank participantsTenth Revision
2016
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.
Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M. Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. Journal Of Neurosurgery 2016, 126: 1879-1883. PMID: 27611203, DOI: 10.3171/2016.6.jns16665.Peer-Reviewed Original ResearchConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaWhole-exome sequencingArteriovenous malformationsExome sequencingWhole-exome sequencing analysisSpinal arteriovenous malformationsDiagnostic classification schemesExome sequencing analysisComprehensive genomic characterizationConclusion Study resultsCranial MRIDirect Sanger sequencingHemorrhagic telangiectasiaBlood samplesFamilial occurrenceHeterozygous mutationsACVRL1 mutationsPatientsThree SiblingsFourth siblingVariant segregationSanger sequencingMalformationsSiblings
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply