2011
A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature
Khattab M, Xu F, Li P, Bhandari V. A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature. American Journal Of Medical Genetics Part A 2011, 155: 3082-3086. PMID: 22052796, DOI: 10.1002/ajmg.a.34307.Peer-Reviewed Original ResearchGenomic 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 ResearchBi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia
Massaro SA, Bajaj R, Pashankar FD, Ornstein D, Gallagher PG, Krause DS, Li P. Bi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia. Pediatric Blood & Cancer 2011, 57: 516-519. PMID: 21538823, PMCID: PMC4517576, DOI: 10.1002/pbc.23156.Peer-Reviewed Original Research
2008
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features
Mariño-Enríquez A, Li P, Samuelson J, Rossi MR, Reyes-Múgica M. Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. Human Pathology 2008, 39: 1844-1848. PMID: 18657299, DOI: 10.1016/j.humpath.2008.04.013.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorChromosomes, Human, Pair 12Chromosomes, Human, Pair 15Chromosomes, Human, Pair 19Combined Modality TherapyFibrosarcomaGene RearrangementHumansInfantMaleProto-Oncogene Proteins c-etsReceptor, trkCRepressor ProteinsRetroperitoneal NeoplasmsTomography, X-Ray ComputedTranslocation, GeneticTreatment OutcomeConceptsCongenital fibrosarcomaInflammatory myofibroblastic tumorUnusual histologic featuresGenotype/phenotype correlationGenotype-phenotype correlationMyofibroblastic tumorHistologic featuresMesenchymal tumorsTherapeutic armamentariumIntermediate malignancyTrisomy 8TumorsFibrosarcomaRefined diagnosisDiagnosisUltrastructural featuresMolecular diagnosisPhenotype correlationNovel findingsFusion signalCytogenetic analysisA translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsAlpha-KlothoExcessive renal lossPhosphate levelsParathyroid massRenal failureRenal osteodystrophyFGF23 levelsMajor complicationsParathyroid hyperplasiaKidney failureRenal lossBeta-glucuronidase activityNormal responseHyperparathyroidismEnergy homeostasisRicketsBone formationSkeletal abnormalitiesPhysiologic processesPhosphate homeostasisHyperphosphatemiaPatientsHyperplasiaBone defects