1996
Uniform amplification of a mixture of deoxyribonucleic acids with varying GC content.
Baskaran N, Kandpal R, Bhargava A, Glynn M, Bale A, Weissman S. Uniform amplification of a mixture of deoxyribonucleic acids with varying GC content. Genome Research 1996, 6: 633-638. PMID: 8796351, DOI: 10.1101/gr.6.7.633.Peer-Reviewed Original ResearchBase CompositionBetaineCarrier ProteinsDimethyl SulfoxideDNADNA-Directed DNA PolymeraseFemaleFragile X SyndromeHumansMajor Histocompatibility ComplexMaleMembrane ProteinsMolecular Sequence DataOrganic Cation Transporter 1Polymerase Chain ReactionReceptors, TransferrinTemplates, GeneticTrinucleotide Repeats
1992
The CEPH consortium linkage map of human chromosome 2
Spurr N, Cox S, Bryant S, Attwood J, Robson E, Shields D, Steinbrueck T, Jenkins T, Murray J, Kidd K, Summar M, Tsipouras P, Retief A, Kruse T, Bale A, Vergnaud G, Weber J, McBride O, Donis-Keller H, White R. The CEPH consortium linkage map of human chromosome 2. Genomics 1992, 14: 1055-1063. PMID: 1478647, DOI: 10.1016/s0888-7543(05)80129-6.Peer-Reviewed Original ResearchDNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508
Petty E, Gold E, Bale A. DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508. Clinical Chemistry 1992, 38: 2422-2425. PMID: 1458578, DOI: 10.1093/clinchem/38.12.2422.Peer-Reviewed Original ResearchRegional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19
Mitchell A, Bale A, Lee B, Hatfield D, Harley H, Rundle S, Fan Y, Fukushima Y, Shows T, McBride O. Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19. Cytogenetic And Genome Research 1992, 61: 117-120. PMID: 1395717, DOI: 10.1159/000133385.Peer-Reviewed Original Research
1990
Genetic Abnormalities in Sporadic Parathyroid Adenomas
Friedman E, Bale A, Marx S, Norton J, Arnold A, Tu T, Aurbach G, Spiegel A. Genetic Abnormalities in Sporadic Parathyroid Adenomas. The Journal Of Clinical Endocrinology & Metabolism 1990, 71: 293-297. PMID: 2199477, DOI: 10.1210/jcem-71-2-293.Peer-Reviewed Original ResearchAnalysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism
NAKAYAMA Y, WONDISFORD F, LASH R, BALE A, WEINTRAUB B, CUTLER G, RADOVICK S. Analysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism. The Journal Of Clinical Endocrinology & Metabolism 1990, 70: 1233-1238. PMID: 2186053, DOI: 10.1210/jcem-70-5-1233.Peer-Reviewed Original ResearchA base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.
Usala S, Tennyson G, Bale A, Lash R, Gesundheit N, Wondisford F, Accili D, Hauser P, Weintraub B. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. Journal Of Clinical Investigation 1990, 85: 93-100. PMID: 2153155, PMCID: PMC296391, DOI: 10.1172/jci114438.Peer-Reviewed Original ResearchConceptsGeneralized thyroid hormone resistanceC-erbA betaThyroid hormone resistanceHormone resistanceBase substitutionsT3-binding domainC-erbA beta geneThyroid hormone receptor genesBeta thyroid hormone receptorThyroid hormone receptorC-erbA beta thyroid hormone receptorHormone receptor geneProline codonsGenomic DNAThyroid hormone actionAltered baseBeta cDNASecondary structureBeta geneNuclear receptorsBase mutationMaximum logarithmPosition 448Receptor geneBeta receptors
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 Research
1988
A cDNA probe (PheA12) from the hc-(ERBA) gene on chromosome 3 detects a high frequency RFLP
Bale A, Usala S, Weinberger C, Weintraub B, McBride O. A cDNA probe (PheA12) from the hc-(ERBA) gene on chromosome 3 detects a high frequency RFLP. Nucleic Acids Research 1988, 16: 7756-7756. PMID: 2901070, PMCID: PMC338478, DOI: 10.1093/nar/16.15.7756.Peer-Reviewed Original ResearchA retinoic acid receptor cDNA probe (RAR2) identifies a moderately frequent RFLP on chromosome 17
Bale A, Weinberger C, McBride O. A retinoic acid receptor cDNA probe (RAR2) identifies a moderately frequent RFLP on chromosome 17. Nucleic Acids Research 1988, 16: 7755-7755. PMID: 2901069, PMCID: PMC338477, DOI: 10.1093/nar/16.15.7755.Peer-Reviewed Original Research