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
2005
Enteroscopic Evaluation of the Gastrointestinal Tract in Symptomatic Patients With Hereditary Hemorrhagic Telangiectasia
Proctor DD, Henderson KJ, Dziura JD, Longacre AV, White RI. Enteroscopic Evaluation of the Gastrointestinal Tract in Symptomatic Patients With Hereditary Hemorrhagic Telangiectasia. Journal Of Clinical Gastroenterology 2005, 39: 115-119. PMID: 15681905, DOI: 10.1097/01.mcg.0000150193.15978.f9.Peer-Reviewed Original ResearchConceptsHereditary hemorrhagic telangiectasiaStomach/duodenumHemorrhagic telangiectasiaGastrointestinal bleedingNumber of telangiectasesSymptomatic adult patientsCross-sectional studyAutosomal dominant diseaseDistal stomachSymptomatic patientsAdult patientsMedian numberIndividual patientsGastrointestinal tractPatientsTelangiectasesDuodenumJejunal onesJejunumLarger telangiectasesStomachDominant diseaseBleedingAnemiaTelangiectasia