2012
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations
Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, terBrugge KG, White RI. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations. American Journal Of Medical Genetics Part A 2012, 158A: 2829-2834. PMID: 22991266, PMCID: PMC3610331, DOI: 10.1002/ajmg.a.35622.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IIAdolescentAdultAgedAntigens, CDArteriovenous FistulaChildChild, PreschoolEndoglinFemaleGenetic Association StudiesHumansInfantInfant, NewbornIntracellular Signaling Peptides and ProteinsIntracranial Arteriovenous MalformationsMaleMiddle AgedMutationReceptors, Cell SurfaceSmad4 ProteinTelangiectasia, Hereditary HemorrhagicYoung AdultConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaHistory of ICHIntracranial hemorrhageArteriovenous malformationsMean ageVascular malformationsHemorrhagic telangiectasiaMultiple brain arteriovenous malformationsAutosomal dominant genetic diseaseDominant genetic diseaseGenetic test resultsAVM characteristicsClinical manifestationsAVM diagnosisPatientsInitial examinationMultiple organsLarger studyACVRL1 mutationsENG mutationsMalformationsAgeSignificant differencesManifestations
2009
Results of Exercise Stress Testing in Patients with Diffuse Pulmonary Arteriovenous Malformations
Murphy J, Pierucci P, Chyun D, Henderson KJ, Pollak J, White RI, Fahey J. Results of Exercise Stress Testing in Patients with Diffuse Pulmonary Arteriovenous Malformations. Pediatric Cardiology 2009, 30: 978-984. PMID: 19636485, DOI: 10.1007/s00246-009-9491-5.Peer-Reviewed Original ResearchConceptsDiffuse pulmonary arteriovenous malformationsExercise stress testingPulmonary arteriovenous malformationsOxygen saturationMaximum exerciseArteriovenous malformationsRoom air oxygen saturationMean oxygen saturationStress testingCycle ergometer testNoncontrast chestBilateral involvementFrequent complicationComplete embolizationSerial studiesPatientsErgometer testOwn controlYoung adultsNoninvasive methodLimited experienceSignificant differencesMalformationsBaselineAge