2018
Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population
Pahl KS, Choudhury A, Wusik K, Hammill A, White A, Henderson K, Pollak J, Kasthuri RS. Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population. The Journal Of Pediatrics 2018, 197: 207-213. PMID: 29655863, DOI: 10.1016/j.jpeds.2018.01.079.Peer-Reviewed Original Research
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