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
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
1993
Cutaneous 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