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 sequencesPulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region
Levanat S, Chidambaram A, Wicking C, Bray-Ward P, Pressman C, Toftgard R, Gailani M, Myers J, Wainwright B, Dean M, Bale A. Pulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region. Cytogenetic And Genome Research 1997, 76: 208-213. PMID: 9186526, DOI: 10.1159/000134551.Peer-Reviewed Original ResearchConceptsNovel zinc finger geneChromosome 9q22Gene-rich regionsZinc finger geneHuman disease lociGel electrophoresisFISH mappingFinger genePFGE fragmentsNotI fragmentsRestriction fragment lengthDisease locusD9S196Field gel electrophoresisD9S180FishFragment lengthGenesKbInterphase FISHPulsed-field gel electrophoresisElectrophoresisFragmentsCOL15A1Loci
1996
Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.Peer-Reviewed Original ResearchConceptsGorlin syndromeGorlin syndrome patientsSyndrome patientsMultiple basal cell carcinomasConductive hearing lossBasal cell carcinomaAllelic lossCancer predisposition syndromeAutosomal dominant disorderGerm-line deletionOvarian fibromaSecond patientCell carcinomaHearing lossGroup AGroup CPatientsSyndromeDominant mutationsSignificant phenotypic variabilityGorlin syndrome geneDominant disorderNull mutationXeroderma pigmentosum group AIdentical alterationsMutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Hahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsBasal Cell Nevus SyndromeBase SequenceChromosome MappingChromosomes, Human, Pair 9Cloning, MolecularDNA, ComplementaryDrosophilaDrosophila ProteinsExonsFemaleGene DeletionGene ExpressionGenes, Tumor SuppressorHumansIn Vitro TechniquesInsect HormonesIntronsMembrane ProteinsMolecular Sequence DataMutationPedigreeReceptors, Cell SurfaceSequence Homology, Nucleic AcidConceptsDrosophila segment polarity geneSegment polarity genesCertain cell typesDevelopmental abnormalitiesPolarity genesHuman homologStrong homologySporadic basal cell carcinomasHuman sequenceCosmid contigTumor suppressorLoss of heterozygosityCell typesGenesPatched geneChromosome 9q22.3Complete lossFunction contributesNevoid basal cell carcinoma syndromeMutation analysisBasal cell carcinoma syndromeAutosomal dominant disorderNBCCS patientsDrosophilaDominant disorderA Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗)
Hahn H, Christiansen J, Wicking C, Zaphiropoulos P, Chidambaram A, Gerrard B, Vorechovsky I, Bale A, Toftgard R, Dean M, Wainwright B. A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗). Journal Of Biological Chemistry 1996, 271: 12125-12128. PMID: 8647801, DOI: 10.1074/jbc.271.21.12125.Peer-Reviewed Original ResearchConceptsLimb budSonic hedgehogSegment polarity genesIntegral membrane proteinsVentral neural tubePolarity genesHydropathy analysisPatched proteinCorrect patterningPutative proteinImaginal discsMembrane proteinsDrosophila hedgehogHuman PatchedCDNA sequencePosterior ectodermMurine homologPatched expressionMouse embryosClose functional relationshipNeural tubeLarval segmentsRegion AssociatedAmino acidsHedgehog
1995
REPORT on the Fourth International Workshop on Chromosome 9: held at Williamsburg, Virginia, USA, April 23–25, 1995
PERICAK‐VANCE M, BALE A, HAINES J, KWIATKOWSKI D, PILZ A, SLAUGENHAUPT S, WHITE J, EDWARDS J, MARCHUK D, OLOPADE O, ATTWOOD J, POVEY S. REPORT on the Fourth International Workshop on Chromosome 9: held at Williamsburg, Virginia, USA, April 23–25, 1995. Annals Of Human Genetics 1995, 59: 347-365. PMID: 8579331, DOI: 10.1111/j.1469-1809.1995.tb00756.x.Peer-Reviewed Original ResearchThe Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development.
Bale A, Gailani M, Leffell D. The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development. Proceedings Of The Association Of American Physicians 1995, 107: 253-7. PMID: 8624861.Peer-Reviewed Original ResearchThe CEPH Consortium Linkage Map of Human Chromosome 11
Litt M, Kramer P, Kort E, Fain P, Cox S, Root D, White R, Weissenbach J, Donis-Keller H, Gatti R, Weber J, Nakamura Y, Julier C, Hayashi K, Spurr N, Dean M, Mandel J, Kidd K, Kruse T, Retief A, Bale A, Meo T, Vergnaud G, Warren S, Willard H. The CEPH Consortium Linkage Map of Human Chromosome 11. Genomics 1995, 27: 101-112. PMID: 7665156, DOI: 10.1006/geno.1995.1011.Peer-Reviewed Original ResearchCEPH Consortium Map of Chromosome 14
Cox D, Billingsley G, Bale A, Donis-Keller H, Edwards J, Litt M, Mcbride W, Persichetti F, Spurr N, Weber J, Weissenbach J, White R. CEPH Consortium Map of Chromosome 14. Cytogenetic And Genome Research 1995, 69: 175-178. PMID: 7698005, DOI: 10.1159/000133955.Peer-Reviewed Original Research
1994
Nevoid basal cell carcinoma syndrome.
Bale A, Gailani M, Leffell D. Nevoid basal cell carcinoma syndrome. Journal Of Investigative Dermatology 1994, 103: 126s-130s. PMID: 7963674, DOI: 10.1111/1523-1747.ep12399438.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBasal Cell Nevus SyndromeChromosome MappingChromosomes, Human, Pair 9Gene DeletionGenes, Tumor SuppressorHumansConceptsOvarian fibromaCell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeHereditary basal cell carcinomasBasal cell carcinomaMultiple congenital anomaliesGerm-line mutationsAutosomal dominant disorderUnusual patientCongenital anomaliesCarcinoma syndromeTumor typesHereditary disorderTumor suppressor geneDominant disorderSporadic medulloblastomasAllelic lossFine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q
Compton J, Kearns K, Bale S, Goldstein A, Turner M, Bale A, McBride O. Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q. Journal Of Investigative Dermatology 1994, 103: 178-181. PMID: 8040607, DOI: 10.1111/1523-1747.ep12392682.Peer-Reviewed Original ResearchMapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland.
Petty E, Green J, Marx S, Taggart R, Farid N, Bale A. Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland. American Journal Of Human Genetics 1994, 54: 1060-6. PMID: 7911003, PMCID: PMC1918205.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCarcinoid TumorChildChromosome MappingChromosomes, Human, Pair 11FemaleGenetic LinkageGenetic MarkersHaplotypesHumansHyperparathyroidismMaleMolecular Sequence DataMultiple Endocrine NeoplasiaNewfoundland and LabradorNorthwestern United StatesParentsPedigreePituitary NeoplasmsProlactinomaSyndromeLocalization 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
A Pulsed-Field Gel Electrophoresis (PFGE) Map of Twelve Loci on Chromosome 11q11-q13
Petty E, Arnold A, Marx S, Bale A. A Pulsed-Field Gel Electrophoresis (PFGE) Map of Twelve Loci on Chromosome 11q11-q13. Genomics 1993, 15: 423-425. PMID: 8449512, DOI: 10.1006/geno.1993.1080.Peer-Reviewed Original ResearchReport 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 ResearchProgression of uremic hyperparathyroidism involves allelic loss on chromosome 11.
Falchetti A, Bale A, Amorosi A, Bordi C, Cicchi P, Bandini S, Marx S, Brandi M. Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11. The Journal Of Clinical Endocrinology & Metabolism 1993, 76: 139-144. PMID: 8421078, DOI: 10.1210/jcem.76.1.8421078.Peer-Reviewed Original Research
1992
The CEPH consortium linkage map of human chromosome 2
Spurr N, Cox S, Bryant S, Attwood J, Robson E, Shields D, Steinbrueck T, Jenkins T, Murray J, Kidd K, Summar M, Tsipouras P, Retief A, Kruse T, Bale A, Vergnaud G, Weber J, McBride O, Donis-Keller H, White R. The CEPH consortium linkage map of human chromosome 2. Genomics 1992, 14: 1055-1063. PMID: 1478647, DOI: 10.1016/s0888-7543(05)80129-6.Peer-Reviewed Original ResearchREPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992
POVEY S, SMITH M, HAINES J, KWIATKOWSKI D, FOUNTAIN J, BALE A, ABBOTT C, JACKSON I, LAWRIE M, HULTÉN M. REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992. Annals Of Human Genetics 1992, 56: 167-182. PMID: 1449236, DOI: 10.1111/j.1469-1809.1992.tb01145.x.Peer-Reviewed Original ResearchRegional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19
Mitchell A, Bale A, Lee B, Hatfield D, Harley H, Rundle S, Fan Y, Fukushima Y, Shows T, McBride O. Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19. Cytogenetic And Genome Research 1992, 61: 117-120. PMID: 1395717, DOI: 10.1159/000133385.Peer-Reviewed Original Research
1991
Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis
Mitchell A, Bale A, Wang-ge M, Yi H, White R, Pirtle R, McBride O. Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis. Genomics 1991, 11: 1063-1070. PMID: 1686015, DOI: 10.1016/0888-7543(91)90033-b.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceChromosome MappingChromosomes, Human, Pair 14FemaleGenetic LinkageGenetic MarkersHumansMaleMolecular Sequence DataMultigene FamilyNucleic Acid HybridizationPolymorphism, Restriction Fragment LengthRestriction MappingRNA, TransferRNA, Transfer, LeuRNA, Transfer, ProRNA, Transfer, ThrConceptsT cell receptor alphaTRNA genesAnchor lociChromosomal locationHuman/rodent somatic cell hybridsRodent somatic cell hybridsLinkage analysisChromosome 14Human tRNA genesSomatic cell hybridsGenetic linkage analysisTRNA clusterMYH7 locusGene clusterGenomic fragmentCell hybridsCEPH pedigreesChromosome 14q11Southern analysisDNA segmentsGene locusAnonymous probesLociInformative membersSitu hybridization