2005
Preimplantation Genetic Diagnosis (PGD) for Heritable Neoplasia
Simpson J, Carson S, Cisneros P. Preimplantation Genetic Diagnosis (PGD) for Heritable Neoplasia. JNCI Monographs 2005, 2005: 87-90. PMID: 15784832, DOI: 10.1093/jncimonographs/lgi027.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiopsyBlastocystBlastomeresCord Blood Stem Cell TransplantationEmbryo TransferFemaleGenetic CounselingGenetic Diseases, InbornGenetic Predisposition to DiseaseGenotypeHLA AntigensHumansInfant, NewbornMaleNeoplasmsPregnancyPregnancy OutcomePreimplantation DiagnosisTruth DisclosureWillsConceptsAdenomatous polyposis coliPreimplantation genetic diagnosisMolecular basisGenetic diagnosisMendelian disordersMendelian formsPolyposis coliEmbryosVon Hippel-Lindau syndromeMore cellsLi-Fraumeni syndromeGametesGenesPolar body biopsyDNADays postconceptionColiTransfer of embryosBlastocystsTrophectoderm biopsyStem cell implantationBRCA1Specific HLA genotypesGenotypesCells
2004
Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology
McKenzie L, Carson S, Marcelli S, Rooney E, Cisneros P, Torskey S, Buster J, Simpson J, Bischoff F. Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology. Human Reproduction 2004, 19: 2231-2237. PMID: 15298970, DOI: 10.1093/humrep/deh391.Peer-Reviewed Original ResearchMeSH KeywordsAdultAneuploidyBlastocystBlastomeresCell NucleusChromosomesFemaleHumansIn Situ Hybridization, FluorescencePregnancyPreimplantation DiagnosisConceptsChromosome 13Aneuploid blastomeresOrganization of chromosomesLocalization of chromosomesRegulatory protein functionHuman preimplantation embryosChromosome localizationChromosomal localizationProtein functionTranscriptional activityPreimplantation embryosChromosomesStage embryosEmbryo morphologyNormal blastomeresBlastomeresEmbryosHuman blastomeresSitu hybridizationSpatial organizationAbnormal embryosPreimplantation genetic diagnosisLocalizationGenetic diagnosisPaternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable
Somprasit C, Aguinaga M, Cisneros P, Torsky S, Carson S, Buster J, Amato P, McAdoo S, Simpson J, Bischoff F. Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable. Reproductive BioMedicine Online 2004, 9: 225-230. PMID: 15333256, DOI: 10.1016/s1472-6483(10)62134-7.Peer-Reviewed Original ResearchConceptsPaternal gonadal mosaicismSpontaneous abortionPreimplantation genetic diagnosisIVF-PGD cyclesRecurrent spontaneous abortionGonadal mosaicismIVF cyclesPaternal germ cellsPeripheral bloodRecurrent abortionCase reportPGD cyclesNormal karyotypeFemale partnersAbortionGenetic diagnosisIVFCytogenetic studiesDown syndrome critical regionGerm cellsUnexpected findingSitu hybridizationNormal embryosMosaicism
2003
Preimplantation genetic diagnosis for a known cryptic translocation: Follow‐up clinical report and implication of segregation products
McKenzie L, Cisneros P, Torsky S, Bacino C, Buster J, Carson S, Simpson J, Bischoff F. Preimplantation genetic diagnosis for a known cryptic translocation: Follow‐up clinical report and implication of segregation products. American Journal Of Medical Genetics Part A 2003, 121A: 56-59. PMID: 12900903, DOI: 10.1002/ajmg.a.20159.Peer-Reviewed Original ResearchConceptsPreimplantation genetic diagnosisCryptic translocationMaternal age-related aneuploidyAge-related aneuploidyGenetic diagnosisChromosome 17 centromere probeSevere mental retardationChorionic villus samplingUnbalanced productsPregnancy terminationClinical reportsEmpiric riskVillus samplingTransferable embryosMental retardationFrequent modeNormal offspringDiagnosisChildrenReportTranslocationUnbalanced segregants