2006
PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer
Risch HA, Bale AE, Beck PA, Zheng W. PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1738-1741. PMID: 16985038, DOI: 10.1158/1055-9965.epi-06-0272.Peer-Reviewed Original ResearchConceptsOvarian cancerA allelePostmenopausal womenProgesterone receptor gene polymorphismHistologic tumor typePopulation-based studyEpithelial ovarian cancerEffect of progesteroneReceptor gene polymorphismsPremenopausal womenEndometrial cancerMenopausal statusOral contraceptivesOvarian neoplasiaProgesterone receptorProgestin exposureG genotypeGG genotypeGene polymorphismsTumor typesReceptor isoformsCancerWomenRiskProgesteroneMutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Human Mutation 2006, 27: 626-632. PMID: 16786505, DOI: 10.1002/humu.20339.Peer-Reviewed Original Research
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
1989
Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643
Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643. Cytogenetic And Genome Research 1989, 51: 622-643. PMID: 2676386, DOI: 10.1159/000132810.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingCloning, MolecularDNAGenome, HumanGenomic LibraryHumansPolymorphism, Genetic