2020
Genotype–Phenotype Correlations in Children with HHT
Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME, . Genotype–Phenotype Correlations in Children with HHT. Journal Of Clinical Medicine 2020, 9: 2714. PMID: 32842615, PMCID: PMC7565052, DOI: 10.3390/jcm9092714.Peer-Reviewed Original ResearchBrain vascular malformationsHereditary hemorrhagic telangiectasiaPulmonary arteriovenous malformationsGenotype-phenotype correlationVascular malformationsArteriovenous malformationsHHT patientsCentral nervous systemRare autosomal dominant diseaseChi-square testAutosomal dominant diseaseGastrointestinal bleedingPediatric patientsMucocutaneous telangiectasiaHemorrhagic telangiectasiaGreater prevalenceNervous systemPatientsPhenotypic presentationDominant diseaseMalformationsAdultsChildrenTelangiectasiaMutations
2015
Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia
Kim H, Nelson J, Krings T, terBrugge K, McCulloch C, Lawton M, Young W, Faughnan M, Chakinala M, Gossage J, Henderson K, Iyer V, Kasthuri R, Lin D, Mager J, McWilliams J, McDonald J, Pawlikowska L, Pollak J, Ratjen F, Swanson K, Vethanayagam D, White A, White R, Wilcox P. Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia. Stroke 2015, 46: 1362-1364. PMID: 25858236, PMCID: PMC4415515, DOI: 10.1161/strokeaha.114.007367.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAneurysm, RupturedChildChild, PreschoolCohort StudiesFemaleHumansInfantInfant, NewbornIntracranial Arteriovenous MalformationsIntracranial HemorrhagesMaleMiddle AgedRecurrenceRetrospective StudiesSocioeconomic FactorsSurvival AnalysisTelangiectasia, Hereditary HemorrhagicYoung AdultConceptsHereditary hemorrhagic telangiectasiaBrain arteriovenous malformationsICH rateArteriovenous malformationsHemorrhage rateHemorrhagic telangiectasiaHigher ICH ratesIntracranial hemorrhage rateMajority of patientsICH presentationSymptomatic casesSystemic diseaseICH eventsMean ageAsymptomatic screeningMucocutaneous telangiectasiaHHT patientsHigh riskUnruptured casesPatientsMalformationsDiagnosisTelangiectasiaRehemorrhageEpistaxis