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
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 inheritanceWomen