2020
A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH
Majumdar SK, Jacob T, Bale A, Bailey A, Kwon J, Hughes T, Barbieri AL, Laskin W, Cohen P, Carling TJE. A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH. Case Reports In Endocrinology 2020, 2020: 8752610. PMID: 33062349, PMCID: PMC7555459, DOI: 10.1155/2020/8752610.Peer-Reviewed Case Reports and Technical NotesFamilial hypocalciuric hypercalcemiaLow urinary calcium excretionUrinary calcium excretionCalcium excretionSerum calciumHypocalciuric hypercalcemiaCalcium-sensing receptor geneElevated set pointOsteitis fibrosa cysticaNovel heterozygous variantElevated calcitriolParathyroid histologyIntact PTHMild hypercalcemiaSubtotal parathyroidectomyFibrosa cysticaPrimary hyperparathyroidismMild elevationNormal PTHClinical manifestationsNovel variantsBony findingsBony lesionsCASR geneParathyroid glands
2000
Identification of PATCHED mutations in medulloblastomas by direct sequencing
Dong J, Gailani M, Pomeroy S, Reardon D, Bale A. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation 2000, 16: 89-90. PMID: 10874314, DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7.Peer-Reviewed Original ResearchConceptsSingle-strand conformational polymorphismSporadic medulloblastomasPTCH genePatched mutationsAberrant splicingPTCH proteinSSCP screeningMutant allelesStrand conformational polymorphismSplice site alterationsChromosome 9q22Nonsense mutationSite alterationMutationsFrequency of mutationsConformational polymorphismDNA samplesMalignant embryonic tumorGenesNovel variantsPTCH mutationsDirect sequencingAllelesNevoid basal cell carcinoma syndromePtch allele