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 therapy
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 disorder