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 ResearchMeSH KeywordsAbortion, HabitualAdultBlastocystCell NucleusDown SyndromeEmbryo TransferFathersFemaleFertilizationFertilization in VitroHumansIn Situ Hybridization, FluorescenceKaryotypingMaleMosaicismPreimplantation DiagnosisSpermatozoaConceptsPaternal 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 ResearchMeSH KeywordsChromosomes, Human, Pair 17Chromosomes, Human, Pair 2FemaleFertilization in VitroHumansIn Situ Hybridization, FluorescenceMalePregnancyPreimplantation DiagnosisTranslocation, GeneticConceptsPreimplantation 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
1997
Effect of sexual abstinence on the proportion of X-bearing sperm as assessed by multicolor fluorescent in situ hybridization
Hilsenrath R, Swarup M, Bischoff F, Buster J, Carson S. Effect of sexual abstinence on the proportion of X-bearing sperm as assessed by multicolor fluorescent in situ hybridization. Fertility And Sterility 1997, 68: 510-513. PMID: 9314924, DOI: 10.1016/s0015-0282(97)00247-1.Peer-Reviewed Original ResearchMeSH KeywordsAdultHumansIn Situ Hybridization, FluorescenceMaleSexual BehaviorSpermatozoaX ChromosomeY Chromosome