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
2000
Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations.
Moussouttas M, Fayad P, Rosenblatt M, Hashimoto M, Pollak J, Henderson K, Ma T, White R. Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations. Neurology 2000, 55: 959-64. PMID: 11061251, DOI: 10.1212/wnl.55.7.959.Peer-Reviewed Original ResearchConceptsMultiple pulmonary arteriovenous malformationsSingle pulmonary arteriovenous malformationPulmonary arteriovenous malformationsNeurologic manifestationsCortical infarctionParadoxical embolizationCerebral ischemiaRadiologic evidenceTreatment of PAVMsRetrospective cross-sectional studyCerebral imaging studiesNumber of PAVMsCross-sectional studyConsecutive patientsIschemic involvementPulmonary angiographyArtery diameterSubcortical infarctionAneurysmal sizeArteriovenous malformationsGreater oddsGreater prevalencePatientsInfarctionImaging studies