2014
Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients
CARNEIRO JG, COUTO PG, BASTOS-RODRIGUES L, BICALHO MA, VIDIGAL PV, VILHENA A, AMARAL NF, BALE AE, FRIEDMAN E, DE MARCO L. Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genetics Research 2014, 96: e002. PMID: 24594201, PMCID: PMC7045132, DOI: 10.1017/s0016672314000032.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAged, 80 and overBrazilCarcinoma, Non-Small-Cell LungCarcinoma, Squamous CellCase-Control StudiesDNA-Binding ProteinsErbB ReceptorsFemaleGenetic Predisposition to DiseaseHumansImmunoenzyme TechniquesLung NeoplasmsMaleMiddle AgedMutationNeoplasm StagingPolymerase Chain ReactionPrognosisProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)PTEN PhosphohydrolaseRas ProteinsTranscription FactorsConceptsNon-small cell lung cancerSquamous cell carcinomaTTF-1 expressionLung cancerTTF-1PTEN mutationsBrazilian lung cancer patientsCancer typesPI3K pathway inhibitorsCell lung cancerCancer-related mortalityLung cancer patientsSomatic mutationsCommon somatic mutationsNSCLC patientsInter-individual variabilityCancer patientsEGFR mutationsTherapeutic responseBrazilian patientsHigh prevalenceKRAS mutationsLung adenocarcinomaSomatic EGFRTreatment response
2006
A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency
Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency. Clinical Chemistry 2006, 52: 1864-1870. PMID: 16887896, DOI: 10.1373/clinchem.2006.072397.Peer-Reviewed Original Research
2005
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory
Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.Peer-Reviewed Original ResearchConceptsPituitary tumorsSporadic patientsIslet neoplasiaMEN1 mutationsMultiple endocrine neoplasia type 1Islet cell neoplasiaMEN1 genePancreatic islet tumorsFrameshift deletion mutationClinical featuresSomatic mosaicismPancreatic neoplasmsCell neoplasiaHyperparathyroidismBlood samplesPatientsClinical testingIslet tumorsSporadic casesType 1TumorsFamilial casesNeoplasiaSplice site mutationDNA diagnostic laboratories
2004
Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients
Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.Peer-Reviewed Original ResearchConceptsBreast cancerOvarian cancerBRCA2 mutationsFamily historyYounger ageKorean breast cancer patientsKorean womenIncidence of BRCA1Breast cancer patientsAge 40 yearsPrevalence of BRCA1Paraffin-embedded tissue blocksKorean patientsPeripheral bloodCancer patientsEtiologic factorsP53 overexpressionBreast carcinomaImmunohistochemical stainingPatientsKorean populationBRCA genesCancerUnknown significanceCyclin D1
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
1999
Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas
Petroianu A, Boson W, Bale A, Friedman E, De Marco L. Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas. The Laryngoscope 1999, 109: 661-663. PMID: 10201760, DOI: 10.1097/00005537-199904000-00027.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Squamous CellDNA Mutational AnalysisDNA, NeoplasmExonsFemaleGTP-Binding ProteinsHumansMalePoint MutationPolymerase Chain ReactionPolymorphism, GeneticConceptsSquamous cell carcinomaCell carcinomaPolymerase chain reactionPrimary squamous cell carcinomaHuman squamous cell carcinomaEvidence of mutationsPresence of mutationsCommon malignancyUnselected populationCarcinomaStudy designMajor causeChain reactionPatientsCandidate genesPatched geneMolecular mechanismsTumorigenesisMutationsSequence alterationsMalignancyConformational polymorphismTumorsGenesMortality
1997
Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel‐type zinc finger sequence on chromosome segment 9q22.3
Chidambaram A, Gailani M, Gerrard B, Stewart C, Goldstein A, Chumakov I, Bale A, Dean M. Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel‐type zinc finger sequence on chromosome segment 9q22.3. Genes Chromosomes And Cancer 1997, 18: 212-218. PMID: 9071574, DOI: 10.1002/(sici)1098-2264(199703)18:3<212::aid-gcc7>3.0.co;2-4.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBasal Cell Nevus SyndromeBase SequenceChromosome MappingChromosomes, Artificial, YeastChromosomes, Human, Pair 9CosmidsCpG IslandsDNA, ComplementaryDNA-Binding ProteinsGene DeletionGenomic LibraryHeterozygoteHumansKruppel-Like Transcription FactorsMicrosatellite RepeatsMolecular Sequence DataPolymerase Chain ReactionRepressor ProteinsSequence Analysis, DNASequence Tagged SitesTranscription FactorsZinc FingersConceptsSomatic cell hybrid panel analysisYAC contigNew zinc finger geneZinc finger geneHuman chromosome regionYeast artificial chromosome contigInformative microsatellite lociArtificial chromosome contigZinc finger sequencesPolymorphic marker lociFinger geneMicrosatellite lociChromosome regionsMarker lociDevelopmental defectsSite mappingLinkage analysisContigsLoss of heterozygosityCytogenetic evidenceLociGenesNevoid basal cell carcinoma syndromeAutosomal dominant disorderFinger sequences
1996
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeNBCCS patientsMultiple basal cell carcinomasNevoid basal cell carcinoma syndrome patientsBasal cell carcinoma syndromeMultisystem autosomal dominant disorderBasal cell carcinomaAutosomal dominant disorderOvarian fibromaCell carcinomaSuch tumorsSyndrome patientsCarcinoma syndromePlantar pitsOdontogenic keratocystsEctopic calcificationGorlin syndromeClinical phenotypeDevelopmental anomaliesSyndromePatientsDominant disorderIntrafamilial variabilityTumorsHuman homologueUniform amplification of a mixture of deoxyribonucleic acids with varying GC content.
Baskaran N, Kandpal R, Bhargava A, Glynn M, Bale A, Weissman S. Uniform amplification of a mixture of deoxyribonucleic acids with varying GC content. Genome Research 1996, 6: 633-638. PMID: 8796351, DOI: 10.1101/gr.6.7.633.Peer-Reviewed Original ResearchBase CompositionBetaineCarrier ProteinsDimethyl SulfoxideDNADNA-Directed DNA PolymeraseFemaleFragile X SyndromeHumansMajor Histocompatibility ComplexMaleMembrane ProteinsMolecular Sequence DataOrganic Cation Transporter 1Polymerase Chain ReactionReceptors, TransferrinTemplates, GeneticTrinucleotide Repeats
1995
Direct molecular analysis of archival tumor tissue for loss of heterozygosity.
Johnson D, Levanat S, Bale A. Direct molecular analysis of archival tumor tissue for loss of heterozygosity. BioTechniques 1995, 19: 190-2. PMID: 8527133.Peer-Reviewed Original Research
1994
Localization of the gene for the nevoid basal cell carcinoma syndrome.
Goldstein A, Stewart C, Bale A, Bale S, Dean M. Localization of the gene for the nevoid basal cell carcinoma syndrome. American Journal Of Human Genetics 1994, 54: 765-73. PMID: 7909984, PMCID: PMC1918262.Peer-Reviewed Original Research
1993
Report of the Second International Workshop on Human Chromosome 9 Mapping 1993
Kwiatkowski D, Armour J, Bale A, Fountain J, Goudie D, Haines J, Knowles M, Pilz A, Slaugenhaupt S, Povey S. Report of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenetic And Genome Research 1993, 64: 93-121. PMID: 8334899, DOI: 10.1159/000133566.Peer-Reviewed Original Research
1992
DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508
Petty E, Gold E, Bale A. DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508. Clinical Chemistry 1992, 38: 2422-2425. PMID: 1458578, DOI: 10.1093/clinchem/38.12.2422.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCystic FibrosisDeoxyribonucleases, Type II Site-SpecificDNAGene DeletionHumansMethylationMolecular Sequence DataPolymerase Chain Reaction
1991
Ornithine transcarbamylase polymorphism detected by PCR introduction of Dral site
Petty E, Carstens R, Bale A. Ornithine transcarbamylase polymorphism detected by PCR introduction of Dral site. Nucleic Acids Research 1991, 19: 690-690. PMID: 2011544, PMCID: PMC333689, DOI: 10.1093/nar/19.3.690.Peer-Reviewed Original Research
1990
Analysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism
NAKAYAMA Y, WONDISFORD F, LASH R, BALE A, WEINTRAUB B, CUTLER G, RADOVICK S. Analysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism. The Journal Of Clinical Endocrinology & Metabolism 1990, 70: 1233-1238. PMID: 2186053, DOI: 10.1210/jcem-70-5-1233.Peer-Reviewed Original Research