2011
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
Bajaj R, Xu F, Xiang B, Wilcox K, DiAdamo AJ, Kumar R, Pietraszkiewicz A, Halene S, Li P. Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia. Molecular Cytogenetics 2011, 4: 3. PMID: 21251322, PMCID: PMC3031273, DOI: 10.1186/1755-8166-4-3.Peer-Reviewed Original ResearchArray comparative genomic hybridizationCopy number alterationsAcute myeloid leukemiaClonal chromosomal abnormalitiesOligonucleotide array comparative genomic hybridizationGene contentBAC clonesEvidence-based approachComparative genomic hybridizationElderly patientsGenomic analysisGenomic contentDerivative chromosome 6Genomic featuresIsodicentric X chromosomeMyelodysplastic syndromeX chromosomeMyeloid leukemiaConclusionsOur dataCytogenomic analysisChromosome 6Clinical validitySegmental amplificationMYC geneClonal abnormalities
2010
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 699-705. PMID: 21177792, PMCID: PMC3047225, DOI: 10.1210/jc.2010-1554.Peer-Reviewed Original ResearchConceptsX chromosomeInformative single nucleotide polymorphism (SNP) markersSingle nucleotide polymorphism (SNP) markersHigh-throughput assaysPolymorphism markersSingle nucleotide polymorphismsY chromosome materialRAS valuesBuccal swab DNAX chromosome abnormalitiesHigh-throughput testChromosomal mosaicismTurner syndromeDNAMarkersFemalesTS benefitSpecificityT detectionKaryotypeHomozygosityPolymorphismMosaicismAssaysLarge-scale studies