2018
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV
Ravindranath Y, Johnson RM, Goyette G, Buck S, Gadgeel M, Gallagher PG. KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV. Journal Of Pediatric Hematology/Oncology 2018, 40: e405-e409. PMID: 29300242, PMCID: PMC6092092, DOI: 10.1097/mph.0000000000001056.Peer-Reviewed Original ResearchConceptsCongenital dyserythropoietic anemia type IVClinical courseSevere clinical courseType IVSevere clinical phenotypeIV patientsFetal anemiaTransfusion dependenceFunctional abnormalitiesClinical phenotypePatientsHematologic phenotypeChildrenErythrocyte membranesPhenotypeSplenectomyAnemiaComplete sex reversalFetalisAbnormalities
2011
A New Case of KLF1 G973A Mutation and Congenital Dyserythropoeitic Anemia (CDA)- Further Definition of Emerging New Syndrome and Possible Association with Gonadal Dysgenesis
Ravindranath Y, Goyette G, Buck S, Gadgeel M, Dombkowski A, Boxer L, Gallagher P, Johnson R. A New Case of KLF1 G973A Mutation and Congenital Dyserythropoeitic Anemia (CDA)- Further Definition of Emerging New Syndrome and Possible Association with Gonadal Dysgenesis. Blood 2011, 118: 2101. DOI: 10.1182/blood.v118.21.2101.2101.Peer-Reviewed Original ResearchE325K mutationRed blood cellsHemolytic anemiaFetal hydropsMale sexSevere anemiaNew casesK mutationAquaporin-1High fetal hemoglobinErythroid transcription factor KLF1Gonadal dysgenesisPresence of CD44Undiagnosed hemolytic anemiaPresence of spherocytesAbsence of CD44Array comparative genomic hybridization studyIntrauterine transfusionComparative genomic hybridization studyWeeks' gestationClinical courseClinical findingsKLF1 mutationsRenal stonesPatient's erythrocytes
1999
Cystic hygroma in the fetus and newborn
Gallagher P, Mahoney M, Gosche J. Cystic hygroma in the fetus and newborn. Seminars In Perinatology 1999, 23: 341-356. PMID: 10475547, DOI: 10.1016/s0146-0005(99)80042-1.Peer-Reviewed Original ResearchConceptsCystic hygromaLymphatic system abnormalitiesNonsurgical therapyDisease courseOverall prognosisBetter prognosisClinical coursePathologic correlatesPosterior neckSystem abnormalitiesLymphoid systemHygromaKaryotypic abnormalitiesMalformation syndromeAbnormalitiesTeratogenic agentsPrognosisDevelopmental abnormalitiesFetusesNeonatesSyndromeInfantsTherapyNeckCourse