1997
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeMean ageCell carcinomaFirst tumorJaw cystsCarcinoma syndromePlantar pitsNumber of BCCsFalx cerebriPalmar/plantar pitsMultiple basal cell carcinomasAffected individualsAutosomal dominant disorderImportant radiological signsOvarian fibromaUS patientsClinical manifestationsPercent of whitesRadiological signsPhysical findingsBifid ribsSprengel's deformityRadiation therapyCharacterization 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-Binding ProteinsDNA, ComplementaryGene 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 acidsHedgehogRelationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma
Gailani M, Leffell D, Ziegler A, Gross E, Brash D, Bale A. Relationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma. Journal Of The National Cancer Institute 1996, 88: 349-354. PMID: 8609643, DOI: 10.1093/jnci/88.6.349.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaLoss of heterozygosityCell carcinomaP53 geneSunlight exposureExact testGenetic alterationsPathogenesis of BCCSun-exposed areasFrequency of LOHMohs micrographic surgical techniqueEnvironmental agentsLocation of tumorFisher's exact testSkin cancer patientsKey genetic alterationsUVB radiationChi-squared analysisFrequent genetic alterationsLimited associationSpecific environmental agentsBCC incidenceTumor characteristicsCancer patientsCommon cancer
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 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 ResearchLocalization 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
Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s).
Petty E, Gibson L, Fountain J, Bolognia J, Yang-Feng T, Housman D, Bale A. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s). American Journal Of Human Genetics 1993, 53: 96-104. PMID: 8317504, PMCID: PMC1682234.Peer-Reviewed Original ResearchConceptsCutaneous malignant melanomaGerm-line deletionMalignant melanomaPrimary malignant melanomaMelanoma predisposition genePlexiform neurofibromaPulsed-field gel electrophoresisMultiple melanomasPredisposition genesMelanoma tumorigenesisMelanomaTandem repeat polymorphismCytogenetic rearrangementsPatient's DNAHigh-resolution karyotypeMode of inheritanceWomenReport 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 ResearchCutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9
Petty E, Bolognia J, Bale A, Yang‐Feng T. Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9. American Journal Of Medical Genetics 1993, 45: 77-80. PMID: 8418665, DOI: 10.1002/ajmg.1320450119.Peer-Reviewed Case Reports and Technical NotesConceptsHereditary cutaneous malignant melanomaCutaneous malignant melanomaMalignant melanomaMultiple primary melanomasMelanoma tumor tissuesUnbalanced reciprocal translocationPrimary melanomaFamily historyTumor tissueMelanomaCell linesLarge kindredChromosome 9pKindredsReciprocal translocationMolecular studiesShort armNumerous studiesChromosome 5
1992
Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22
Cannon-Albright L, Goldgar D, Meyer L, Lewis C, Anderson D, Fountain J, Hegi M, Wiseman R, Petty E, Bale A, Olopade O, Diaz M, Kwiatkowski D, Piepkorn M, Zone J, Skolnick M. Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22. Science 1992, 258: 1148-1152. PMID: 1439824, DOI: 10.1126/science.1439824.Peer-Reviewed Original ResearchConceptsMelanoma susceptibility locusSusceptibility lociFamilial melanoma susceptibilityInterferon alpha genesFamilial melanomaMultipoint linkage analysisShort tandem repeat markersRepeat markersTandem repeat markersChromosomal regionsGenetic markersLinkage analysisLociSomatic lossMelanoma susceptibilityMelanoma tumorsGermline deletionChromosome 9p21Maximum location scoreHomozygous deletionCritical roleCandidate regionsDeletionUtah kindredsChromosomesREPORT 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 ResearchDevelopmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, Drum M, Pastakia B, McBride O, Kase R, Greene M, Mulvihill J, Bale A. Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992, 69: 111-117. PMID: 1348213, DOI: 10.1016/0092-8674(92)90122-s.Peer-Reviewed Original ResearchMeSH KeywordsBasal Cell Nevus SyndromeChromosomes, Human, Pair 9FemaleGenes, Tumor SuppressorGenetic LinkageHeterozygoteHumansMaleMutationPedigreePolymorphism, Restriction Fragment LengthConceptsBasal cell carcinomaSporadic basal cell carcinomasCell carcinomaLoss of heterozygosityGorlin syndromeHereditary tumorsTumor suppressor geneHereditary basal cell carcinomasMultiple congenital anomaliesSuppressor geneAutosomal dominant disorderOvarian fibromaCongenital anomaliesCarcinomaGermline mutationsHereditary disorderPutative tumor suppressor geneDevelopmental defectsSyndromeGorlin syndrome geneDominant disorderAllelic lossGenetic linkage studiesTumorsTumor suppressor