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
2004
Pulmonary arteriovenous malformations in children: Outcomes of transcatheter embolotherapy
Faughnan ME, Thabet A, Mei-Zahav M, Colombo M, MacLusky I, Hyland RH, Pugash RA, Chait P, Henderson KJ, White RI. Pulmonary arteriovenous malformations in children: Outcomes of transcatheter embolotherapy. The Journal Of Pediatrics 2004, 145: 826-831. PMID: 15580209, DOI: 10.1016/j.jpeds.2004.08.046.Peer-Reviewed Original ResearchConceptsPulmonary arteriovenous malformationsTranscatheter embolotherapyArteriovenous malformationsPleuritic chest painLife-threatening complicationsLong-term complicationsChest painNeurologic complicationsComplication rateMean ageComplicationsPatientsFurther complicationsEmbolotherapyAdult ratesChildrenMalformationsOutcomesHemoptysisCyanosisReperfusionPain