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 alterations
1995
The 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 ResearchConceptsGorlin syndrome geneEmbryonic developmentTumor suppressorSyndrome geneBasal cell carcinogenesisCell carcinogenesisGenesSuppressor
1994
Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells
Bale A. Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells. Endocrinology And Metabolism Clinics Of North America 1994, 23: 109-115. PMID: 7913019, DOI: 10.1016/s0889-8529(18)30119-1.Peer-Reviewed Original ResearchConceptsPancreatic islet tumorsIslet tumorsMEN 1Islet cellsMultiple endocrine neoplasia type 1Pancreatic islet cellsMEN 1 geneGeneral populationSporadic tumorsType 1Activation of oncogenesTumorsGorlin syndrome geneAdenomatous polyposis coliLimited dataNeoplastic transformationPolyposis coliTumor suppressorGenetic eventsMolecular mechanismsSyndrome geneEarly stagesCellsPatientsNeoplasia
1992
Developmental 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 ResearchConceptsBasal 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