2008
Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P. Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. American Journal Of Medical Genetics Part A 2008, 146A: 1942-1954. PMID: 18627053, DOI: 10.1002/ajmg.a.32411.Peer-Reviewed Original ResearchMeSH KeywordsChildChromosome DeletionChromosomes, Artificial, BacterialDevelopmental DisabilitiesFemaleGene DuplicationGenome, HumanHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingMaleMosaicismOligonucleotide Array Sequence AnalysisPilot ProjectsROC CurveSensitivity and SpecificityConceptsOligonucleotide array comparative genomic hybridizationArray comparative genomic hybridizationComparative genomic hybridizationGenomic hybridizationMosaic patternGenomic contentPolymorphic inversionsFemale DNAGenomic disordersGenomic variantsOligonucleotide arraysChromosomesGenomic aberrationsFISH analysisChromosomal abnormalitiesDifferent chromosomal abnormalitiesSitu hybridizationRobertsonian translocationsMarker chromosomesDeletionDNA mixturesHybridizationMental retardationDuplicationDNADouble-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization
Kamath A, Tara H, Xiang B, Bajaj R, He W, Li P. Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization. Cancer Genetics 2008, 183: 117-120. PMID: 18503831, DOI: 10.1016/j.cancergencyto.2008.02.011.Peer-Reviewed Original ResearchConceptsOligonucleotide array comparative genomic hybridizationComparative genomic hybridizationBacterial artificial chromosome clone probesGenomic imbalancesGenomic hybridizationDouble minutesPVT1 geneChromosomal observationsChromosome XDeletionSitu hybridizationRecurrent chromosomal abnormalitiesGenomic findingsGenesHybridizationMYC probeCDKN2BChromosome analysisCDKN2AMTAPChromosomal abnormalitiesChromosomal analysisELAVL2TRIB1MYC
2003
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6
Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. American Journal Of Medical Genetics Part A 2003, 124A: 280-287. PMID: 14708101, DOI: 10.1002/ajmg.a.20413.Peer-Reviewed Original ResearchConceptsChromosome 6Transcription factor FOXC1Nervous system developmentCentral nervous system developmentRing chromosome 6Microsatellite genotypingDevelopmental defectsOphthalmologic abnormalitiesRing 6Central nervous system examinationPhenotype comparisonsSegmental deletionsGenotype-phenotype correlationTerminal regionGene deletionNervous system examinationMixed hearing lossMolecular definitionSitu hybridizationDeletionFusion pointGenesAbnormal physical featuresCerebral dysgenesisFOXC1 gene