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
2014
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica 2014, 99: e168-e170. PMID: 24895341, PMCID: PMC4562552, DOI: 10.3324/haematol.2014.110312.Peer-Reviewed Original Research
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
2009
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. American Journal Of Medical Genetics Part A 2009, 149A: 2788-2794. PMID: 19921640, PMCID: PMC2788106, DOI: 10.1002/ajmg.a.33088.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceRobin sequenceVariable clinical presentationFurther genotype-phenotype correlationsMb deletionGenotype-phenotype correlationSecond patientClinical presentationCardiac anomaliesNewborn periodArray comparative genomic hybridization analysisComparative genomic hybridization analysisCardiac abnormalitiesPaternal genetic factorsGenomic hybridization analysisFamilial variantPatientsPregnant femalesGenetic factorsDistal duplicationVariable expressionVariable expressivityDistal long armGenomic findingsDisability
2008
Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins
De Stefano D, Li P, Xiang B, Hui P, Zambrano E. Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins. American Journal Of Medical Genetics Part A 2008, 146A: 525-528. PMID: 18203206, DOI: 10.1002/ajmg.a.32160.Peer-Reviewed Original Research
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