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Molecular screening of Coloured South African breast cancer patients for the presence of BRCA mutations using high resolution melting analysis

颁布单位：[University of the Free State] | 颁布时间：2016 | 实施时间：2016 | 学科分类：[["South, Africa","BRCA1/2","HRMA","Mutation, screening","Computer-based, analysis","Coloured, population","Breast, --, Cancer","Breast, --, Cancer, --, Genetic, aspects","Dissertation, (M.Med.Sc., (Human, Genetics))--University, of, the, Free, State,, 2016"]]

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Molecular screening for the presence of large deletions or duplications in BRCA using Multiplex ligation-dependent probe amplification in South Africa

颁布单位：[University of the Free State] | 颁布时间：2016 | 实施时间：2016 | 学科分类：[["Dissertation, (M.Med.Sc., (Human, Genetics))--University, of, the, Free, State,, 2016","South, Africa","Familial, breast, cancer","Large, genomic, rearrangements","Multiple, ligation, dependent, probe, amplification","Mutations","BRCA1","BRCA2","Breast, --, Cancer, --, Genetic, aspects"]]

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Screening of young and/or familial African breast cancer patients for the presence of BRCA mutations

颁布单位：[University of the Free State] | 颁布时间：2014 | 实施时间：2014 | 学科分类：[["Dissertation, (M.Med.Sc., (Human, Genetics))--University, of, the, Free, State,, 2014","Breast, --, Cancer, --, Patients","Breast, --, Cancer, --, Genetic, aspects","Nucleotide, sequence","Africans, --, Diseases","Familial, breast, cancer","Mutation, screening","BRCA1","BRCA2","Sotho/Tswana, population","SSCP,, HA,, PTT,, DNA, sequencing"]]

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Impact of imatinib mesylate on SLC22A1 gene expression in chronic myeloid leukaemia cell line, K562

颁布单位：[University of the Free State] | 颁布时间：2013 | 实施时间：2013 | 学科分类：[["SLC22A1","Gene, expression","Taqman, protein, assay","Imatinib","BCR-ABL","Chronic, myeloid, leukaemia","Blood, --, Diseases","Chronic, myeloid, leukemia, --, Genetic, aspects","Chronic, myeloid, leukemia, --, Treatment","Gene, expression","Dissertation, (M.Med.Sc., (Haematology, and, Cell, Biology))--University, of, the, Free, State,, 2013"]]

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Genotypic and expression analysis of CYP3A4 and CYP3A5 in patients with chronic myeloid leukaemia

颁布单位：[University of the Free State] | 颁布时间：2013 | 实施时间：2013 | 学科分类：[["Dissertation, (M.Med.Sc., (Haematology, and, Cell, Biology))--University, of, the, Free, State,, 2013","Chronic, myeloid, leukemia, --, Genetic, aspects","Chronic, myeloid, leukemia, --, Treatment","Gene, expression","Chronic, myeloid, leukemia, --, Diagnosis","Imatinib","Aromatase","BCRABL","Imatinib, mesylate","mRNA, expression","CYP3A4","Single, nucleotide, polymorphism, (SNP)","CYP3A5","Cytochrome, P450"]]

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Influence of selected polymorphisms on the expression of breast cancer in Afrikaner BRCA2 carriers

颁布单位：[University of the Free State] | 颁布时间：2011 | 实施时间：2011 | 学科分类：[["FGFR2","LSP1","MAP3K1","TNRC9","Taqman®","ESR1","Haplotype","Penetrance","Familial, breast, cancer","Genetic, modifiers","SNPs","Breast, --, Cancer","Breast, --, Cancer, --, Genetic, aspects","Dissertation, (M.Med.Sc., (Human, Genetics))--University, of, the, Free, State,, 2011"]]

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Sequensing of exon 28 of Von Willebrand factor in five patients with type 2 Von Willebrand disease

颁布单位：[University of the Free State] | 颁布时间：2009 | 实施时间：2009 | 学科分类：[["Dissertation, (M.Med.Sc., (Haematology, and, Cell, Biology))--University, of, the, Free, State,, 2009","Von, Willebrand, disease","Blood, coagulation, disorders, --, Genetic, aspects","Von, Willebrand, factor","Diagnosis,, Laboratory","Molecular, pathogenesis","Inherited, bleeding, disorders","Mutations","Polymorphisms","Genetics"]]

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The effect of selected polymorphisms in the p53 pathway as potential genetic modifiers of cancer risk and penetrance in female Afrikaner BRCA2 carriers

颁布单位：[University of the Free State] | 颁布时间：2007 | 实施时间：2007 | 学科分类：[["Breast, --, Cancer, --, Genetic, aspects","Genetic, polymorphisms","Recombinant, haplotype","Penetrance","Epidemiological, characteristics","MDM2","WAF1","Tp53","Modifiers","SNPs","Phenotypic, expression","Familial, breast, cancer","Dissertation, (M.Med.Sc., (Human, Genetics))--University, of, the, Free, State,, 2007"]]

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Fluorescence in situ hybridization as a diagnostic tool for the detection of the FANCA delE12-31 and delE11-17 mutations

颁布单位：[University of the Free State] | 颁布时间：2005 | 实施时间：2005 | 学科分类：[["Fanconi, anaemia","FAA","Fish","Founder, mutations","DelE12-, 31","DelE11-17","PCR","Afrikaner, population","Fanconi's, anemia, --, Molecular, aspects","Fanconi's, anemia, --, Genetic, aspects","Children, --, Diseases, --, South, Africa","Dissertation, (M.Med.Sc., (Medical, Science))--University, of, the, Free, State,, 2005"]]

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