2022
Recurrent Loss of Heterozygosity in Pancreatic Neuroendocrine Tumors
Parilla M, Chapel D, Hechtman J, Wanjari P, Jabbour T, Sharma A, Ritterhouse L, Segal J, Vanderbilt C, Klimstra D, Setia N, Tang L. Recurrent Loss of Heterozygosity in Pancreatic Neuroendocrine Tumors. The American Journal Of Surgical Pathology 2022, 46: 823-831. PMID: 35125451, PMCID: PMC9106831, DOI: 10.1097/pas.0000000000001860.Peer-Reviewed Original ResearchConceptsPancreatic neuroendocrine tumorsNeuroendocrine tumorsChromosomal copy number alterationsLoss of chromosome 11Loss of chromosome 1Recurrent loss of heterozygosityLoss of heterozygosityCopy number alterationsDisease-specific mortalityPrognostic markerChromosome aneuploidyTumor typesNext-generation sequencingChromosomal subgroupsAggressive subgroupTumorRecurrent lossChromosome 1Chromosome 11Third groupSubgroupsMortalityStatistical analysisMultivariate statistical analysisAneuploidy
2021
Embryology outcomes after oocyte vitrification with super-cooled slush nitrogen are similar to outcomes with conventional liquid nitrogen: a randomized controlled trial
Hanson BM, Kim JG, Suarez SI, Ackerman BK, Comito CE, Pangasnan R, Seli E, Hong KH, Scott RT. Embryology outcomes after oocyte vitrification with super-cooled slush nitrogen are similar to outcomes with conventional liquid nitrogen: a randomized controlled trial. Fertility And Sterility 2021, 117: 106-114. PMID: 34654569, DOI: 10.1016/j.fertnstert.2021.08.043.Peer-Reviewed Original ResearchConceptsMetaphase II oocytesEmbryology outcomesOocyte survivalII oocytesOocyte donor cyclesOocyte survival ratePreimplantation genetic testingBlastocyst formationWhole chromosome aneuploidyChromosome aneuploidySecondary outcomesPrimary outcomeDonor cyclesDonor oocytesRate of fertilizationMAIN OUTCOMESurvival rateOocyte vitrificationTrophectoderm biopsyGenetic testingDonor spermPrivate practiceNext-generation sequencingOutcomesDemonstrable improvement
2019
Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities
Chai H, DiAdamo A, Grommisch B, Boyle J, Amato K, Wang D, Wen J, Li P. Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities. Medical Sciences 2019, 7: 16. PMID: 30678103, PMCID: PMC6410168, DOI: 10.3390/medsci7020016.Peer-Reviewed Original ResearchArray comparative genomic hybridizationPathogenic copy number variantsMosaic patternStructural chromosomal rearrangementsChromosomal structural rearrangementsCopy number variantsComparative genomic hybridizationChromosomal rearrangementsGenomic imbalancesCommon aneuploidiesNumber variantsCellular proliferationIntegrated fishGenomic hybridizationFishSitu hybridizationStructural rearrangementsReflex FISHStructural chromosomal abnormalitiesSex chromosome aneuploidyACGH analysisChromosome aneuploidyAneuploidyCell culturesHybridization
2012
Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies
Hager K, Jennings K, Hosono S, Howell S, Gruen JR, Rivkees SA, Tartaglia NR, Rinder HM. Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies. International Journal Of Pediatric Endocrinology 2012, 2012: 8. PMID: 22524164, PMCID: PMC3411476, DOI: 10.1186/1687-9856-2012-8.Peer-Reviewed Original ResearchSex chromosome aneuploidyChromosome aneuploidyEarly mitotic divisionsHigh-throughput potentialAutosome ratiosDNA sequencing methodsBiallelic SNPsX chromosomeMolecular diagnostic assaysMitotic divisionGenomic DNASequencing methodsMarker dataDiagnostic assaysBuccal swab samplesPCR productsPyrosequencingKaryotypeAneuploidyDNANormal samplesMolecular diagnostic testingAssaysChromosomesMarkers
2009
Profound teratospermia does not influence sex chromosomal aneuploidy rate in in vitro fertilization–preimplantation genetic diagnosis cycles
Dayal M, Gindoff P, Zarek S, Peak D, Dubey A, Frankfurter D. Profound teratospermia does not influence sex chromosomal aneuploidy rate in in vitro fertilization–preimplantation genetic diagnosis cycles. Fertility And Sterility 2009, 93: 666-668. PMID: 19732890, DOI: 10.1016/j.fertnstert.2009.07.1006.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAneuploidyChorionic GonadotropinEstradiolFemaleFertility Agents, FemaleFertilization in VitroFollicle Stimulating HormoneGenotypeHumansLeuprolideMaleMaternal AgeOocyte RetrievalOvulation InductionPaternal AgePregnancyPreimplantation DiagnosisSex Chromosome AberrationsSpermatozoaTreatment Failure
1998
Brief Report: Association of Sex Chromosome Anomalies With Childhood-Onset Psychotic Disorders
KUMRA S, WIGGS E, KRASNEWICH D, MECK J, SMITH A, BEDWELL J, FERNANDEZ T, JACOBSEN L, LENANE M, RAPOPORT J. Brief Report: Association of Sex Chromosome Anomalies With Childhood-Onset Psychotic Disorders. Journal Of The American Academy Of Child & Adolescent Psychiatry 1998, 37: 292-296. PMID: 9519634, DOI: 10.1097/00004583-199803000-00014.Peer-Reviewed Original ResearchConceptsChildhood-onset schizophreniaPsychotic disordersPediatric patientsSex chromosome anomaliesSubgroup of patientsAdult-onset schizophreniaChromosome anomaliesLoss of balanceUnspecified psychosisTreatment trialsGeneral populationPatientsSex chromosome aneuploidyMental healthDisordersNational InstituteAffected individualsEnvironmental insultsCytogenetic screeningSchizophreniaChromosome aneuploidyChildrenClozapinePsychosisInsult
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