2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, SpontaneousChromosome AberrationsFemaleGenomicsHumansMicroarray AnalysisPregnancyPrenatal DiagnosisWilliams SyndromeConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
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
2015
Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center
Meng J, Matarese C, Crivello J, Wilcox K, Wang D, DiAdamo A, Xu F, Li P. Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center. Medical Science Monitor 2015, 21: 1942-1948. PMID: 26143093, PMCID: PMC4497468, DOI: 10.12659/msm.893870.Peer-Reviewed Original Research
2012
Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation
Wei Y, Xu F, Li P. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation. Journal Of Genetics And Genomics 2012, 40: 1-14. PMID: 23357340, DOI: 10.1016/j.jgg.2012.12.004.Peer-Reviewed Original ResearchMeSH KeywordsFemaleGenomicsHumansPediatricsPractice Guidelines as TopicPregnancyPrenatal DiagnosisQuality ControlReproducibility of ResultsConceptsMultiple congenital anomaliesArray comparative genomic hybridizationEvidence-based practice guidelinesPatient-control studyPrenatal genetic evaluationAutistic spectrum disorderRational therapeutic interventionsNormal cytogenetic findingsMulti-centre comparisonImmediate clinical applicationPediatric patientsCase seriesPediatric experienceCongenital anomaliesPractice guidelinesDiagnostic yieldClinical validityTherapeutic interventionsCytogenetic findingsAbnormalitiesComparative genomic hybridizationDisease-causing mechanismsIntellectual disabilityStructural anomalies
2011
Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization
Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. American Journal Of Medical Genetics Part A 2011, 155: 1605-1615. PMID: 21671377, PMCID: PMC3745591, DOI: 10.1002/ajmg.a.34043.Peer-Reviewed Original Research