2024
Novel FOXL2 Mutation in an Ovarian Adult Granulosa Cell Tumor: Report of a Case With Diagnostic and Clinicopathologic Implications
Nagy A, Niu N, Ratner E, Hui P, Buza N. Novel FOXL2 Mutation in an Ovarian Adult Granulosa Cell Tumor: Report of a Case With Diagnostic and Clinicopathologic Implications. International Journal Of Gynecological Pathology 2024, 43: 631-636. PMID: 38426544, DOI: 10.1097/pgp.0000000000001024.Peer-Reviewed Original ResearchAdult granulosa cell tumorGranulosa cell tumorsOvarian sex cord-stromal tumorsSex cord-stromal tumorsCord-stromal tumorsCell tumorsFOXL2 mutationMutation c.Fibromatous stromaMalignant ovarian sex cord-stromal tumorAdjuvant vaginal cuff brachytherapyOvarian adult granulosa cell tumorsBilateral salpingo-oophorectomyRight ovarian massVaginal cuff brachytherapyAtypical endometrial hyperplasiaSuperficial myometrial invasionRoutine molecular testingUniform tumor cellsEndometrioid endometrial adenocarcinomaNested growth patternPoint mutation c.Months follow-upSalpingo-oophorectomyTotal hysterectomy
2017
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. European Journal Of Medical Genetics 2017, 60: 369-373. PMID: 28419882, DOI: 10.1016/j.ejmg.2017.04.008.Peer-Reviewed Original ResearchConceptsFanconi anemiaCopy number lossNovel homozygous mutation c.Copy number aberrationsDifferent genesMutant variantsSomatic gene mutationsGenotype-phenotype correlationBone marrow failureGenesGain of 3qNumber lossSETBP1 geneNumber aberrationsMutationsHomozygous mutation c.Genotype correlationMarrow failureMutation analysisMutation c.Gene mutationsFANCLChromosomal abnormalitiesHeterogeneous disorderSETBP1 mutations
2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Molecular Case Studies 2016, 2: a001008. PMID: 27626066, PMCID: PMC5002930, DOI: 10.1101/mcs.a001008.Peer-Reviewed Original ResearchRapid-onset dystonia-parkinsonismCommand auditory hallucinationsNovel clinical presentationHemiplegia of childhoodChildhood-onset schizophreniaNovel de novo mutationYr of ageMild motor delayWhole-exome sequencingChromosomal microarray analysisNeuron-specific isoformSodium-potassium pumpClinical presentationDystonia-parkinsonismBehavioral regressionAuditory hallucinationsMotor delayNeuronal functionDe novo mutationsHeterozygous mutationsMutation c.ATP1A3Novo mutationsMicroarray analysisPast functional studies
2012
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred
Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred. Bone 2012, 50: 1100-1106. PMID: 22387237, PMCID: PMC3322249, DOI: 10.1016/j.bone.2012.02.015.Peer-Reviewed Original ResearchConceptsVitamin D levelsIdiopathic hypercalciuriaKindred APTH levelsD levelsLong-term follow-upBilateral medullary nephrocalcinosisMild bone abnormalitiesSuppressed PTH levelsMutation c.Hereditary hypophosphatemic ricketsRenal phosphate-wastingRickets/osteomalaciaAssess treatment efficacyCompound heterozygous mutationsHHRH patientsKindred BKindred CSLC34A3 mutationsOral phosphateHeterozygous c.Medullary nephrocalcinosisHeterozygous mutationsNaPi-IIcHypercalciuria
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