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
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
1996
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation
Li P, Thompson J, Hug G, Huffman P, Chuck G. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. American Journal Of Medical Genetics 1996, 64: 531-535. PMID: 8870917, DOI: 10.1002/(sici)1096-8628(19960906)64:4<531::aid-ajmg1>3.0.co;2-s.Peer-Reviewed Original ResearchConceptsBone marrow transplantationHunter syndromeMarrow transplantationLeukocyte DNAUrinary glycosaminoglycan excretionAge 2 yearsAge 5 yearsPolymerase chain reaction sequencingCultured skin fibroblastsGlycosaminoglycan excretionPrimary genetic defectMetabolic effectsUrinary glycosaminoglycansSevere formSyndromeSevere disease-causing mutationsLiver homogenatesNovel nonsense mutationMolecular analysisSkin fibroblastsDisease-causing mutationsReaction sequencingGenetic defectsPatientsTransplantation
1995
Mutations of the iduronate‐2‐sulfatase gene on a T146T background in three patients with Hunter syndrome
Li P, Huffman P, Thompson J. Mutations of the iduronate‐2‐sulfatase gene on a T146T background in three patients with Hunter syndrome. Human Mutation 1995, 5: 272-274. PMID: 7599640, DOI: 10.1002/humu.1380050314.Peer-Reviewed Original Research