2012
MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk?
Shifrin A, Bale A, Dykas D, Fay A, Belitsis K, Fomin S, Lann D, Villanueva R, Zheng M, Govil S, Erler B, Matulewicz T, Topilow A, Krasna M, Vernick J. MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk? Journal Of Clinical Oncology 2012, 30: 1540-1540. DOI: 10.1200/jco.2012.30.15_suppl.1540.Peer-Reviewed Original ResearchPancreatic endocrine tumorsMEN1 gene mutationsPrimary hyperparathyroidismFamilial Isolated HyperparathyroidismGenotype-phenotype correlationGene mutationsPhenotypic presentationDifferent phenotypic presentationsExon 7 mutationsMalignant gastrinomaThymic carcinomaTotal pancreatectomySurgical treatmentEndocrine tumorsPituitary adenomasMEN1 syndromeSyndrome resultsClinical phenotypeAge 32Grading systemMEN1 mutationsEarly onsetDiagnostic testsAge 79Codon 103
2011
Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas
Jensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.Peer-Reviewed Original Research
2000
PTCH Gene Mutations in Odontogenic Keratocysts
Barreto D, Gomez R, Bale A, Boson W, De Marco L. PTCH Gene Mutations in Odontogenic Keratocysts. Journal Of Dental Research 2000, 79: 1418-1422. PMID: 10890722, DOI: 10.1177/00220345000790061101.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionBasal Cell Nevus SyndromeBase PairingCodon, NonsenseEmbryonic InductionExonsFemaleFrameshift MutationGene DeletionGenes, Tumor SuppressorHedgehog ProteinsHumansMaleMembrane ProteinsMutationMutation, MissenseOdontogenic CystsPatched ReceptorsPatched-1 ReceptorPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalProteinsReceptors, Cell SurfaceSequence Analysis, DNASignal TransductionTrans-ActivatorsConceptsPTCH geneTumor suppressor geneSingle-strand conformational polymorphismCell fateTransmembrane proteinHuman homologueSuppressor geneBase pairsGenesNumerous tissuesMissense alterationsSporadic keratocystsSporadic odontogenic keratocystsMutationsSomatic mutationsExon 3Nevoid basal cell carcinoma syndromeConformational polymorphismNovel mutationsPCR productsProteinDirect sequencingGene mutationsPTCH gene mutationsPatched