2018
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature
Couture T, Amato K, DiAdamo A, Li P. Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature. Case Reports In Genetics 2018, 2018: 8296478. PMID: 30271640, PMCID: PMC6151220, DOI: 10.1155/2018/8296478.Peer-Reviewed Original ResearchAcute myeloid leukemiaMyelodysplastic syndromeReview of literatureJumping translocationMyeloid leukemiaCases of MDSMore recipient chromosomesProgression of MDSInitial diagnosisPoor prognosisClinical significanceLate progressionHigh riskPatient careCytogenetic findingsOverall treatmentSyndromeLeukemiaProgressionCell lineagesChromosome 1qGenomic defectsChromosomal instabilityAdditional structural rearrangementsTranslocation
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 ResearchConceptsMultiple 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