about
Composite prognostic models across the non-alcoholic fatty liver disease spectrum: Clinical application in developing countriesAn exon 4 mutation identified in the majority of South African familial hypercholesterolaemicsScreening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family.Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.Fat mass and obesity-associated (FTO) gene polymorphisms are associated with physical activity, food intake, eating behaviors, psychological health, and modeled change in body mass index in overweight/obese Caucasian adultsThe UMD-LDLR database: additions to the software and 490 new entries to the database.An anonymous human single copy genomic clone (D8S5) (TL11) on chromosome 8 identifies a moderately frequent RFLPPredominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer's disease.Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical ApplicationExome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.Influence of genetic factors on the development of breast cancer in the older woman.Genomic medicine and risk prediction across the disease spectrum.Postmenopausal Breast Cancer, Aromatase Inhibitors, and Bone Health: What the Surgeon Should Know.Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa.Pharmacogenetics of aromatase inhibitors in endocrine responsive breast cancer: lessons learnt from tamoxifen and CYP2D6 genotyping.Multiple sclerosis-like diagnosis as a complication of previously treated malaria in an iron and vitamin D deficient Nigerian patient.A RFLP associated with the low-density lipoprotein receptor gene (LDLR).Frequent RFLP recognised by an anonymous sequence localised to 11q13 - q14 [D11S.3.7.(E79)].Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.Clinical Overestimation of HER2 Positivity in Early Estrogen and Progesterone Receptor-Positive Breast Cancer and the Value of Molecular Subtyping Using BluePrint.Non-alcoholic fatty liver disease (NAFLD) in the Western Cape: a descriptive analysis.Effect of rapamycin on hepatic osteodystrophy in rats with portasystemic shunting.Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer.Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay.Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.The -237C-->T promoter polymorphism of the SLC11A1 gene is associated with a protective effect in relation to inflammatory bowel disease in the South African population.The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africa.Analysis of viral and genetic factors in South African patients with multiple sclerosis.Apolipoprotein E genotyping and questionnaire-based assessment of lifestyle risk factors in dyslipidemic patients with a family history of Alzheimer's disease: test development for clinical application.The composite interleukin-1 genotype in South Africa.Clinical relevance of apolipoprotein E genotyping based on a family history of Alzheimer's disease.The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.Molecular characterisation of a low-frequency mutation in exon 8 of the human low-density lipoprotein receptor gene.Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease.Familial adenomatous polyposis in two Black South African families.
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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M J Kotze
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P31
P496
0000-0002-6050-2876