2017
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome
Wu W, Geng Q, Liu Y, Xu Z, Li P, Xie J. Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. Fetal And Pediatric Pathology 2017, 36: 432-436. PMID: 29206494, DOI: 10.1080/15513815.2017.1332120.Peer-Reviewed Original ResearchConceptsAndrogen insensitivity syndromeComplete androgen insensitivity syndromeAR gene mutationsInsensitivity syndromeGene mutationsTwin fetusesCases of AISPrenatal diagnosisSubsequent twin pregnancyNovel mutationsAndrogen receptor geneTwin pregnanciesRecessive genetic disorderBilateral testesSuccessful prenatal diagnosisFemale external genitaliaFetusesAR geneSyndromeSyndrome familiesDiagnosisExternal genitaliaReceptor geneGenetic disordersMutation analysis
2010
Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases
Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, Andersson HC, Narumanchi TM, Wang Y, Martinez JE, Wu BL, Li P, Li MM, Chen TJ, Fan YS. Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases. Journal Of Molecular Diagnostics 2010, 12: 204-212. PMID: 20093387, PMCID: PMC2871727, DOI: 10.2353/jmoldx.2010.090115.Peer-Reviewed Original ResearchConceptsClinical useCopy number changesMental retardationMulticenter experienceProband patientEtiological diagnosisDiagnostic yieldClinical utilityCommon microdeletion syndromeClinical relevanceClinical casesArray comparative genomic hybridizationPathogenic copy number changesComparative genomic hybridizationMicrodeletion syndromeDiagnostic laboratoriesFurther investigationDiagnosisOligonucleotide array comparative genomic hybridizationAbnormal casesGenomic imbalancesGenomic hybridization
2008
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features
Mariño-Enríquez A, Li P, Samuelson J, Rossi MR, Reyes-Múgica M. Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. Human Pathology 2008, 39: 1844-1848. PMID: 18657299, DOI: 10.1016/j.humpath.2008.04.013.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorChromosomes, Human, Pair 12Chromosomes, Human, Pair 15Chromosomes, Human, Pair 19Combined Modality TherapyFibrosarcomaGene RearrangementHumansInfantMaleProto-Oncogene Proteins c-etsReceptor, trkCRepressor ProteinsRetroperitoneal NeoplasmsTomography, X-Ray ComputedTranslocation, GeneticTreatment OutcomeConceptsCongenital fibrosarcomaInflammatory myofibroblastic tumorUnusual histologic featuresGenotype/phenotype correlationGenotype-phenotype correlationMyofibroblastic tumorHistologic featuresMesenchymal tumorsTherapeutic armamentariumIntermediate malignancyTrisomy 8TumorsFibrosarcomaRefined diagnosisDiagnosisUltrastructural featuresMolecular diagnosisPhenotype correlationNovel findingsFusion signalCytogenetic analysis