Maritha J. Kotze - Publications

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0/176 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
Low-probability matches (unlikely to be authored by this person)
2024 Oosthuizen J, Van der Merwe NC, Kotze MJ. Navigating the genetic landscape of breast cancer in South Africa amidst a developing healthcare system. Frontiers in Genetics. 14: 1330946. PMID 38259622 DOI: 10.3389/fgene.2023.1330946  0.01
2023 Daramola O, Kavu TD, Kotze MJ, Kamati O, Emjedi Z, Kabaso B, Moser T, Stroetmann K, Fwemba I, Daramola F, Nyirenda M, van Rensburg SJ, Nyasulu PS, Marnewick JL. Detecting the most critical clinical variables of COVID-19 breakthrough infection in vaccinated persons using machine learning. Digital Health. 9: 20552076231207593. PMID 37936960 DOI: 10.1177/20552076231207593  0.01
2023 Jalavu TP, Sigwadhi LN, Kotze MJ, Yalew A, Ngah V, Tamuzi JL, Chapanduka ZC, Allwood BW, Koegelenberg CF, Irusen EM, Lalla U, Matsha TE, Erasmus RT, Zumla A, Zemlin AE, et al. An investigation of the correlation of vitamin D status and management outcomes in patients with severe COVID-19 at a South African tertiary hospital. Ijid Regions. PMID 37363198 DOI: 10.1016/j.ijregi.2023.05.007  0.01
2023 Johannes C, Moremi KE, Kemp MC, Whati L, Engel-Hills P, Kidd M, Toorn RV, Jaftha M, van Rensburg SJ, Kotze MJ. Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis. Personalized Medicine. PMID 37194915 DOI: 10.2217/pme-2022-0016  0.01
2023 Okunola AO, Baatjes KJ, Zemlin AE, Torrorey-Sawe R, Conradie M, Kidd M, Erasmus RT, van der Merwe NC, Kotze MJ. Pathology-supported genetic testing for the application of breast cancer pharmacodiagnostics: family counselling, lifestyle adjustments and change of medication. Expert Review of Molecular Diagnostics. 1-13. PMID 37060281 DOI: 10.1080/14737159.2023.2203815  0.01
2023 Kotze MJ, Mashamba-Thompson TP, Stephens D. Editorial: Implementation of genomic medicine in Africa: One continent, one vision. Frontiers in Genetics. 13: 1133118. PMID 36704332 DOI: 10.3389/fgene.2022.1133118  0.01
2022 van der Merwe NC, Ntaita KS, Stofberg H, Combrink HM, Oosthuizen J, Kotze MJ. Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector. Frontiers in Oncology. 12: 938561. PMID 36568162 DOI: 10.3389/fonc.2022.938561  0.01
2022 Kemp MC, Johannes C, van Rensburg SJ, Kidd M, Isaacs F, Kotze MJ, Engel-Hills P. Disability in multiple sclerosis is associated with vascular factors: An ultrasound study. Journal of Medical Imaging and Radiation Sciences. PMID 36528497 DOI: 10.1016/j.jmir.2022.11.017  0.01
2022 Grobbelaar LM, Kruger A, Venter C, Burger EM, Laubscher GJ, Maponga TG, Kotze MJ, Kwaan HC, Miller JB, Fulkerson D, Huff W, Chang E, Wiarda G, Bunch CM, Walsh MM, et al. Relative Hypercoagulopathy of the SARS-CoV-2 Beta and Delta Variants when Compared to the Less Severe Omicron Variants Is Related to TEG Parameters, the Extent of Fibrin Amyloid Microclots, and the Severity of Clinical Illness. Seminars in Thrombosis and Hemostasis. PMID 36174604 DOI: 10.1055/s-0042-1756306  0.01
2022 Pretorius E, Venter C, Laubscher GJ, Kotze MJ, Oladejo SO, Watson LR, Rajaratnam K, Watson BW, Kell DB. Prevalence of symptoms, comorbidities, fibrin amyloid microclots and platelet pathology in individuals with Long COVID/Post-Acute Sequelae of COVID-19 (PASC). Cardiovascular Diabetology. 21: 148. PMID 35933347 DOI: 10.1186/s12933-022-01579-5  0.01
2022 Bunch CM, Moore EE, Moore HB, Neal MD, Thomas AV, Zackariya N, Zhao J, Zackariya S, Brenner TJ, Berquist M, Buckner H, Wiarda G, Fulkerson D, Huff W, Kwaan HC, ... ... Kotze MJ, et al. Immuno-Thrombotic Complications of COVID-19: Implications for Timing of Surgery and Anticoagulation. Frontiers in Surgery. 9: 889999. PMID 35599794 DOI: 10.3389/fsurg.2022.889999  0.01
2022 Jongeneel CV, Kotze MJ, Bhaw-Luximon A, Fadlelmola FM, Fakim YJ, Hamdi Y, Kassim SK, Kumuthini J, Nembaware V, Radouani F, Tiffin N, Mulder N. A View on Genomic Medicine Activities in Africa: Implications for Policy. Frontiers in Genetics. 13: 769919. PMID 35571023 DOI: 10.3389/fgene.2022.769919  0.01
2021 Mampunye L, van der Merwe NC, Grant KA, Peeters AV, Torrorey-Sawe R, French DJ, Moremi KE, Kidd M, van Eeden PC, Pienaar FM, Kotze MJ. Pioneering Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics. Frontiers in Oncology. 11: 619817. PMID 34660253 DOI: 10.3389/fonc.2021.619817  0.01
2021 Tod B, Visser W, de Wet J, Kotze M, Bowcock A, Ayele B, McCaul M, Schneider J. Clinicopathological features and associations in a series of South African acral melanomas. Pigment Cell & Melanoma Research. PMID 34288507 DOI: 10.1111/pcmr.13003  0.01
2021 Myburgh EJ, de Jager JJ, Murray E, Grant KA, Kotze MJ, de Klerk H. The cost impact of unselective vs selective MammaPrint testing in early-stage breast cancer in Southern Africa. Breast (Edinburgh, Scotland). 59: 87-93. PMID 34217105 DOI: 10.1016/j.breast.2021.05.010  0.01
2021 van Rensburg SJ, Hattingh C, Johannes C, Moremi KE, Peeters AV, van Heerden CJ, Erasmus RT, Zemlin AE, Kemp MC, Jaftha M, Khine AA, Potocnik FCV, Whati L, Engel-Hills P, van Toorn R, ... Kotze MJ, et al. Correction to: Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part II. Insights from two MS cases. Metabolic Brain Disease. PMID 33909201 DOI: 10.1007/s11011-021-00722-7  0.01
2021 van Rensburg SJ, van Toorn R, Erasmus RT, Hattingh C, Johannes C, Moremi KE, Kemp MC, Engel-Hills P, Kotze MJ. Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part I. Targeting a metabolic model rather than autoimmunity. Metabolic Brain Disease. PMID 33909200 DOI: 10.1007/s11011-021-00711-w  0.01
2021 van Rensburg SJ, Hattingh C, Johannes C, Moremi KE, Peeters AV, van Heerden CJ, Erasmus RT, Zemlin AE, Kemp MC, Jaftha M, Khine AA, Potocnik FCV, Whati L, Engel-Hills P, van Toorn R, ... Kotze MJ, et al. Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part II. Insights from two MS cases. Metabolic Brain Disease. PMID 33710528 DOI: 10.1007/s11011-021-00712-9  0.01
2021 Glanzmann B, Jooste T, Ghoor S, Gordon R, Mia R, Mao J, Li H, Charls P, Douman C, Kotze MJ, Peeters AV, Loots G, Esser M, Tiemessen CT, Wilkinson RJ, et al. Human whole genome sequencing in South Africa. Scientific Reports. 11: 606. PMID 33436733 DOI: 10.1038/s41598-020-79794-x  0.01
2021 Baatjes K, Peeters A, McCaul M, Conradie MM, Apffelstaedt J, Conradie M, Kotze MJ. CYP19A1 rs10046 Pharmacogenetics in Postmenopausal Breast Cancer Patients Treated with Aromatase Inhibitors: One-year Follow-up. Current Pharmaceutical Design. 26: 6007-6012. PMID 32900345 DOI: 10.2174/1381612826666200908141858  0.01
2021 Moremi K, Scott C, de Jager L, Pienaar R, Zemlin A, Kotze M. Implementation of a pathology-supported genetic testing framework for return of research results to family members of deceased breast cancer patients with somatic TP53 variants The Breast. 56: S64-S65. DOI: 10.1016/S0960-9776(21)00205-8  0.01
2021 Mampunye I, Grant K, Peeters A, Torrorey-Sawe R, French D, Moremi K, Kidd M, van Eeden P, Pienaar F, van der Merwe N, Kotze M. MammaPrint risk score distribution in South African breast cancer patients with the pathogenic BRCA2 c.7934delG founder variant: towards application of genomic medicine at the point-of-care The Breast. 56: S31. DOI: 10.1016/S0960-9776(21)00120-X  0.01
2020 Tod BM, Schneider JW, Bowcock AM, Visser WI, Kotze MJ. The tumor genetics of acral melanoma: What should a dermatologist know? Jaad International. 1: 135-147. PMID 34355205 DOI: 10.1016/j.jdin.2020.07.004  0.01
2020 Oosthuizen J, Kotze MJ, Van Der Merwe N, Myburgh EJ, Bester P, van der Merwe NC. Globally Rare Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution Next-Generation Sequencing Study. Frontiers in Oncology. 10: 619469. PMID 33643918 DOI: 10.3389/fonc.2020.619469  0.01
2020 Torrorey-Sawe R, van der Merwe N, Mining SK, Kotze MJ. Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing. Frontiers in Genetics. 11: 170. PMID 32231682 DOI: 10.3389/fgene.2020.00170  0.01
2020 Tod BM, Schneider JW, Bowcock AM, Visser WI, Kotze MJ. The tumor genetics of acral melanoma: What should a dermatologist know? Jaad International. 1: 135-147. DOI: 10.1016/j.jdin.2020.07.004  0.01
2019 Marais AD, Kotze MJ, Raal FJ, Khine AA, Talmud PJ, Humphries SE. Familial hypercholesterolaemia workshop for leveraging point-of-care testing and personalised medicine in association with the Lipid and Atherosclerosis Society of Southern Africa. Cardiovascular Journal of Africa. 30: 297-304. PMID 31746944 DOI: 10.5830/CVJA-2019-055  0.01
2019 Nembaware V, Johnston K, Diallo AA, Kotze MJ, Matimba A, Moodley K, Tangwa GB, Torrorey-Sawe R, Tiffin N. A framework for tiered informed consent for health genomic research in Africa. Nature Genetics. 51: 1566-1571. PMID 31659323 DOI: 10.1038/s41588-019-0520-x  0.01
2019 Burger A, Kotze MJ, Stein DJ, van Rensburg SJ, Howells FM. The relationship between a measure of in vivo brain glutamate and markers of iron metabolism: A proton magnetic resonance spectroscopy study in healthy adults. The European Journal of Neuroscience. PMID 31585485 DOI: 10.1111/Ejn.14583  0.01
2019 van Rensburg SJ, Peeters AV, van Toorn R, Schoeman J, Moremi KE, van Heerden CJ, Kotze MJ. Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing. Molecular Genetics and Metabolism Reports. 19: 100465. PMID 30963028 DOI: 10.1016/j.ymgmr.2019.100465  0.01
2019 Baatjes KJ, Kotze MJ, McCaul M, Conradie M. Baseline bone health status in multi-ethnic South African postmenopausal breast cancer patients at initiation of aromatase inhibitor therapy: A descriptive study. Plos One. 14: e0214153. PMID 30939140 DOI: 10.1371/journal.pone.0214153  0.01
2019 Kotze MJ, van Velden DP, Botha K, Badenhorst CH, Avenant H, van Rensburg SJ, Cronjé FJ. Pathology-supported genetic testing directed at shared disease pathways for optimized health in later life. Personalized Medicine. 10: 497-507. PMID 29758833 DOI: 10.2217/pme.13.43  0.01
2019 Baatjes KJ, Conradie M, Apffelstaedt JP, Kotze MJ. Pharmacogenetics of Aromatase Inhibitors in Endocrine Responsive Breast Cancer: Lessons Learnt from Tamoxifen and CYP2D6 Genotyping. Anti-Cancer Agents in Medicinal Chemistry. 17: 1805-1813. PMID 28403774 DOI: 10.2174/1871521409666170412124226  0.01
2019 Grant KA, Myburgh EJ, Murray E, Pienaar FM, Kidd M, Wright CA, Kotze MJ. Reclassification of early stage breast cancer into treatment groups by combining the use of immunohistochemistry and microarray analysis South African Journal of Science. 115. DOI: 10.17159/SAJS.2019/5461  0.01
2019 Kotze M, Peeters A, Pienaar R, Baatjes K. Family screening and data sharing towards variant classification of TP c.1018A>G (N340D) that targets isoform beta The Breast. 44: S38. DOI: 10.1016/s0960-9776(19)30169-9  0.01
2019 Okunola A, Torrorey-Sawe R, Baatjes K, Zemlin A, Erasmus R, Kotze M. Investigation of the role of vitamin D metabolism in South African breast cancer patients using whole exome sequencing The Breast. 44: S36. DOI: 10.1016/S0960-9776(19)30162-6  0.01
2018 Herbert E, Engel-Hills P, Hattingh C, Fouche JP, Kidd M, Lochner C, Kotze MJ, van Rensburg SJ. Fractional anisotropy of white matter, disability and blood iron parameters in multiple sclerosis. Metabolic Brain Disease. PMID 29396631 DOI: 10.1007/S11011-017-0171-5  0.01
2017 Myburgh EJ, Langenhoven L, Grant KA, van der Merwe L, Kotze MJ. Clinical Overestimation of HER2 Positivity in Early Estrogen and Progesterone Receptor-Positive Breast Cancer and the Value of Molecular Subtyping Using BluePrint. Journal of Global Oncology. 3: 314-322. PMID 28831439 DOI: 10.1200/JGO.2016.006072  0.01
2017 van der Merwe N, Peeters AV, Pienaar FM, Bezuidenhout J, van Rensburg SJ, Kotze MJ. Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway. International Journal of Molecular Sciences. 18. PMID 28241424 DOI: 10.3390/ijms18020467  0.01
2017 Baatjes KJ, Apffelstaedt JP, Kotze MJ, Conradie M. Postmenopausal Breast Cancer, Aromatase Inhibitors, and Bone Health: What the Surgeon Should Know. World Journal of Surgery. 40: 2149-56. PMID 27189076 DOI: 10.1007/s00268-016-3555-5  0.01
2017 Peeters A, Van Heerden C, Kotze M. Whole exome sequencing revealed a novel 1-bp PALB2 deletion mutation (D434fs) in a breast cancer patient with a BRCA1 variant of uncertain clinical significance. The Breast. 32: S44-S45. DOI: 10.1016/S0960-9776(17)30164-9  0.01
2017 Baatjes K, Santhia S, Peeters A, Mccaul M, Kotze M. Clinical outcomes in South African breast cancer patients on tamoxifen: 10 years following CYP2D6 genotyping The Breast. 32: S22-S23. DOI: 10.1016/S0960-9776(17)30104-2  0.01
2016 Kotze M. Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde. 106: S114-8. PMID 27245544 DOI: 10.7196/SAMJ.2016.v106i6.11012  0.01
2016 Pohl H, Kotze MJ, Grant KA, van der Merwe L, Pienaar FM, Apffelstaedt JP, Myburgh EJ. Impact of MammaPrint on Clinical Decision-Making in South African Patients with Early-Stage Breast Cancer. The Breast Journal. PMID 27079770 DOI: 10.1111/tbj.12605  0.01
2016 van Rensburg SJ, van Toorn R, Moremi KE, Peeters AV, Oguniyi A, Kotze MJ. Multiple sclerosis-like diagnosis as a complication of previously treated malaria in an iron and vitamin D deficient Nigerian patient. Metabolic Brain Disease. 31: 197-204. PMID 26746433 DOI: 10.1007/s11011-015-9788-4  0.01
2016 Lückhoff HK, Kidd M, van Rensburg SJ, van Velden DP, Kotze MJ. 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. Metabolic Brain Disease. 31: 213-24. PMID 26481640 DOI: 10.1007/s11011-015-9737-2  0.01
2016 van Velden D, van der Merwe S, Fourie E, Kidd M, Blackhurst D, Kotze M, Mansvelt E. The Short-term Influence of a Mediterranean-type Diet and Mild Exercise with and without Red Wine on Patients with the Metabolic Syndrome South African Journal of Enology & Viticulture. 28. DOI: 10.21548/28-1-1458  0.01
2016 Mansvelt E, Fourie E, Blackhurst D, Kotze T, Stofberg H, van der Merwe S, Kotze M, van Velden D. The influence of a Mediterranean Diet with and without Red Wine on the Haemostatic and Inflammatory Parameters of Subjects with the Metabolic Syndrome South African Journal of Enology & Viticulture. 28. DOI: 10.21548/28-1-1457  0.01
2016 Kruger FC, Lückhoff HK, Kotze M, van Rensburg SJ. Mo1541 A Non-Invasive Pre-Screen Diagnostic Algorithm to Differentiate Between Genetic Hereditary Hemochromatosis and the Dysmetabolic Iron Overload Syndrome Gastroenterology. 150: S1140. DOI: 10.1016/S0016-5085(16)33845-8  0.01
2015 Lückhoff HK, Kruger FC, Kotze MJ. Composite prognostic models across the non-alcoholic fatty liver disease spectrum: Clinical application in developing countries. World Journal of Hepatology. 7: 1192-208. PMID 26019735 DOI: 10.4254/wjh.v7.i9.1192  0.01
2015 Luckhoff HK, Brand T, van Velden DP, Kidd M, Fisher LR, van Rensburg SJ, Kotze MJ. Clinical relevance of apolipoprotein E genotyping based on a family history of Alzheimer's disease. Current Alzheimer Research. 12: 210-7. PMID 25731628  0.01
2015 Kotze MJ, Lückhoff HK, Peeters AV, Baatjes K, Schoeman M, van der Merwe L, Grant KA, Fisher LR, van der Merwe N, Pretorius J, van Velden DP, Myburgh EJ, Pienaar FM, van Rensburg SJ, Yako YY, et al. Genomic medicine and risk prediction across the disease spectrum. Critical Reviews in Clinical Laboratory Sciences. 1-18. PMID 25597499 DOI: 10.3109/10408363.2014.997930  0.01
2015 Grant KA, Pienaar FM, Brundyn K, Swart G, Gericke GS, Myburgh EJ, Wright CA, Apffelstaedt JP, Kotze MJ. Incorporating microarray assessment of HER2 status in clinical practice supports individualised therapy in early-stage breast cancer. Breast (Edinburgh, Scotland). 24: 137-42. PMID 25586984 DOI: 10.1016/j.breast.2014.12.006  0.01
2015 Temmingh H, Stein DJ, Howells FM, Botha UA, Koen L, Mazinu M, Jordaan E, Niehaus DJH, Burger A, Brooks S, Stein DJ, Howells FM, Burger A, Roos A, Kwiatkowski M, ... ... Kotze MJ, et al. Biological Psychiatry Congress 2015 South African Journal of Psychiatry. 21: 24. DOI: 10.4102/Sajpsychiatry.V21I3.893  0.01
2015 Merwe NVD, Peeters A, Rensburg SV, Pienaar R, Bezuidenhout J, Kotze M. P275 Implications of discordance between reference genomes applied in breast cancer exome sequencing The Breast. 24: S121. DOI: 10.1016/S0960-9776(15)70307-3  0.01
2015 Kotze M, Murray E, Lukhoff H, Grant K. P055 Clinical dilemma of contradictory HER2 results in breast cancer resolved by microarrays The Breast. 24: S45. DOI: 10.1016/S0960-9776(15)70105-0  0.01
2014 Harbron J, van der Merwe L, Zaahl MG, Kotze MJ, Senekal M. 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 adults. Nutrients. 6: 3130-52. PMID 25102252 DOI: 10.3390/nu6083130  0.01
2014 Ranciaro A, Campbell MC, Hirbo JB, Ko WY, Froment A, Anagnostou P, Kotze MJ, Ibrahim M, Nyambo T, Omar SA, Tishkoff SA. Genetic origins of lactase persistence and the spread of pastoralism in Africa. American Journal of Human Genetics. 94: 496-510. PMID 24630847 DOI: 10.1016/J.Ajhg.2014.02.009  0.01
2014 Delport D, Schoeman R, Van Der Merwe N, Van Der Merwe L, Fisher LR, Geiger D, Kotze MJ. Significance of dietary folate intake, homocysteine levels and MTHFR 677 C>T genotyping in South African patients diagnosed with depression: Test development for clinical application Metabolic Brain Disease. 29: 377-384. PMID 24532086 DOI: 10.1007/s11011-014-9506-7  0.01
2014 Davis W, van Rensburg SJ, Cronje FJ, Whati L, Fisher LR, van der Merwe L, Geiger D, Hassan MS, Matsha T, Erasmus RT, Kotze MJ. The fat mass and obesity-associated FTO rs9939609 polymorphism is associated with elevated homocysteine levels in patients with multiple sclerosis screened for vascular risk factors. Metabolic Brain Disease. 29: 409-19. PMID 24532085 DOI: 10.1007/s11011-014-9486-7  0.01
2014 Kotze M, Marnewick J, Kidd M, Fisher L, van Velden D. Assessment of the impact of hereditary factors on biochemical parameters of cardiovascular risk in relation to moderate alcohol consumption Nutrition and Aging. 2: 189-195. DOI: 10.3233/NUA-130035  0.01
2014 van Velden D, Kotze M. Integrative medicine – healthy ageing Nutrition and Aging. 2: 183-187. DOI: 10.3233/NUA-130025  0.01
2013 Grant KA, Apffelstaedt JP, Wright CA, Myburgh E, Pienaar R, De Klerk M, Kotze MJ. MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde. 103: 522-6. PMID 23885731 DOI: 10.7196/SAMJ.7223  0.01
2013 Kruger FC, Pretorius J, Daniels C, Van Der Merwe L, Kotze MJ. Mo1051 TNF-α Rs1800629 (−308 G>a) Genotyping May Identify Obese Individuals At High Risk for Development of Non-Alcoholic Fatty Liver Disease (NAFLD) Gastroenterology. 144: S-1022. DOI: 10.1016/S0016-5085(13)63797-X  0.01
2012 Bouwens CS, van Rensburg SJ, de Kock L, Apffelstaedt JP, Kotze MJ. Influence of genetic factors on the development of breast cancer in the older woman. Current Aging Science. 5: 140-7. PMID 22894739  0.01
2012 Merwe NVD, Bouwens CSH, Pienaar R, Merwe LVD, Yako YY, Geiger DH, Kotze MJ. CYP2D6 genotyping and use of antidepressants in breast cancer patients: Test development for clinical application Metabolic Brain Disease. 27: 319-326. PMID 22638694 DOI: 10.1007/s11011-012-9312-z  0.01
2012 Kotze MJ, van Rensburg SJ. Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer's disease. Metabolic Brain Disease. 27: 255-66. PMID 22552896 DOI: 10.1007/s11011-012-9296-8  0.01
2012 van Rensburg SJ, Kotze MJ, van Toorn R. The conundrum of iron in multiple sclerosis--time for an individualised approach. Metabolic Brain Disease. 27: 239-53. PMID 22422107 DOI: 10.1007/s11011-012-9290-1  0.01
2012 Jalali Sefid Dashti M, Kotze M, van Rensburg S, Christoffels A, Gamieldien J. Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis Bmc Proceedings. 6: P10. DOI: 10.1186/1753-6561-6-S6-P10  0.01
2012 Kruger FC, Fisher LR, Kidd M, Daniels C, Kotze MJ. Tu1811 Correlation Between Mutations in the HFE Gene and Alanine Transaminase Levels May Increase the Risk of Cardiovascular Disease Events in Patients With NASH Gastroenterology. 142: S-1023. DOI: 10.1016/S0016-5085(12)63957-2  0.01
2012 Marnewick JL, Venter I, Rautenbach F, Neethling H, Kotze M. Rooibos: Effect on Iron Status of South African Adults at Risk for Coronary Heart Disease Free Radical Biology and Medicine. 53: S85. DOI: 10.1016/J.FREERADBIOMED.2012.10.340  0.01
2011 Kruger FC, Daniels CR, Kidd M, Swart G, Brundyn K, van Rensburg C, Kotze M. APRI: a simple bedside marker for advanced fibrosis that can avoid liver biopsy in patients with NAFLD/NASH. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde. 101: 477-80. PMID 21920102  0.01
2011 Van Velden DP, Kotze MJ, Blackhurst DM, Marnewick JL, Kidd M. Health Claims on the Benefits of Moderate Alcohol Consumption in Relation to Genetic Profiles Journal of Wine Research. 22: 123-129. DOI: 10.1080/09571264.2011.603221  0.01
2010 Kruger FC, Daniels C, Kidd M, Swart G, Brundyn K, Van Rensburg C, Kotze MJ. Non-alcoholic fatty liver disease (NAFLD) in the Western Cape: a descriptive analysis. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde. 100: 168-71. PMID 20459941 DOI: 10.7196/SAMJ.1422  0.01
2010 Kotze M, Marais M, Van Rensburg C. Obesity and the metabolic syndrome: Impact of gene-diet interaction South African Gastroenterology Review. 8. DOI: 10.4314/SAGR.V8I1.54217  0.01
2009 Tishkoff SA, Reed FA, Friedlaender FR, Ehret C, Ranciaro A, Froment A, Hirbo JB, Awomoyi AA, Bodo JM, Doumbo O, Ibrahim M, Juma AT, Kotze MJ, Lema G, Moore JH, et al. The genetic structure and history of Africans and African Americans. Science (New York, N.Y.). 324: 1035-44. PMID 19407144 DOI: 10.1126/Science.1172257  0.01
2006 van der Merwe SW, Conradie MM, Bond R, Olivier BJ, Fritz E, Nieuwoudt M, Delport R, Slavik T, Engelbrecht G, Kahn D, Shephard EG, Kotze MJ, de Villiers NP, Hough S. Effect of rapamycin on hepatic osteodystrophy in rats with portasystemic shunting. World Journal of Gastroenterology : Wjg. 12: 4504-10. PMID 16874862  0.01
2006 de Villiers JN, Treurnicht FK, Warnich L, Carr J, van Rensburg SJ, Kotze MJ. Analysis of viral and genetic factors in South African patients with multiple sclerosis. Metabolic Brain Disease. 21: 163-9. PMID 16865539 DOI: 10.1007/s11011-006-9016-3  0.01
2006 Kotze MJ, de Villiers JN, Warnich L, Schmidt S, Carr J, Mansvelt E, Fourie E, van Rensburg SJ. Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis. Metabolic Brain Disease. 21: 109-20. PMID 16850257 DOI: 10.1007/s11011-006-9015-4  0.01
2006 van Rensburg SJ, Kotze MJ, Hon D, Haug P, Kuyler J, Hendricks M, Botha J, Potocnik FC, Matsha T, Erasmus RT. Iron and the folate-vitamin B12-methylation pathway in multiple sclerosis. Metabolic Brain Disease. 21: 121-37. PMID 16729250 DOI: 10.1007/s11011-006-9019-0  0.01
2006 Zaahl MG, Winter TA, Warnich L, Kotze MJ. 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. International Journal of Colorectal Disease. 21: 402-8. PMID 16059695 DOI: 10.1007/s00384-005-0019-z  0.01
2006 Zaahl MG, Winter T, Warnich L, Kotze MJ. Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. Molecular and Cellular Probes. 19: 278-81. PMID 15967635 DOI: 10.1016/J.MCP.2005.03.001  0.01
2006 Van Rensburg C, De Villiers J, Daniels C, Wright C, Kidd M, De Jong G, Kotze M. Identification of clinically-informative biomarkers for risk stratification within the spectrum of gastro-esophageal reflux disease in the South African population South African Gastroenterology Review. 3. DOI: 10.4314/SAGR.V3I1.30722  0.01
2005 Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload. Human Genetics. 118: 549. PMID 16521312  0.01
2005 Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload. Human Genetics. 118: 548-9. PMID 16521311  0.01
2005 Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Gene symbol: SLC40A1. Disease: primary iron overload. Human Genetics. 118: 547. PMID 16521305  0.01
2005 Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload. Human Genetics. 118: 546. PMID 16521301  0.01
2005 Zaahl MG, Warnich L, Victor TC, Kotze MJ. Association of functional polymorphisms of SLC11A1 with risk of esophageal cancer in the South African Colored population. Cancer Genetics and Cytogenetics. 159: 48-52. PMID 15860357 DOI: 10.1016/j.cancergencyto.2004.09.017  0.01
2005 de Villiers JN, Kotze MJ, van Heerden CJ, Sadie A, Gardner HF, Liebenberg J, van Zyl R, du Plessis L, Kimberg M, Frank J, Warnich L. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. Experimental Dermatology. 14: 50-5. PMID 15660919 DOI: 10.1111/j.0906-6705.2005.00228.x  0.01
2004 Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. Human Genetics. 115: 409-17. PMID 15338274 DOI: 10.1007/s00439-004-1166-y  0.01
2004 Zaahl MG, Robson KJ, Warnich L, Kotze MJ. Expression of the SLC11A1 (NRAMP1) 5'-(GT)n repeat: opposite effect in the presence of -237C-->T. Blood Cells, Molecules & Diseases. 33: 45-50. PMID 15223010 DOI: 10.1016/j.bcmd.2004.04.003  0.01
2003 Kotze MJ, Kriegshäuser G, Thiart R, de Villiers NJ, Scholtz CL, Kury F, Moritz A, Oberkanins C. Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease. Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology. 7: 169-74. PMID 15068387  0.01
2003 Hoogendijk CF, Scholtz CL, Pimstone SM, Ehrenborg E, Kastelein JJ, Defesche JC, Thiart R, du Plessis L, de Villiers JN, Zaahl MG, Delport R, Rubinsztein DC, Raffel LJ, Grim CE, Mediene-Benchekor S, ... ... Kotze MJ, et al. Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element. Molecular and Cellular Probes. 17: 175-81. PMID 12944120 DOI: 10.1016/S0890-8508(03)00050-1  0.01
2003 Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW. Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Molecular and Cellular Probes. 17: 49-54. PMID 12628594 DOI: 10.1016/S0890-8508(03)00003-3  0.01
2003 Zaahl MG, Winter T, Peeters A, Marks T, Warnich L, Robson K, Kotze M. Analysis of the SLC11A1 gene in South African patients with inflammatory bowel disease Gastroenterology. 124: A373. DOI: 10.1016/S0016-5085(03)81886-3  0.01
2002 Scholtz CL, Odendaal HJ, Thiart R, Loubser L, Hillermann R, Delport R, Vermaak WJ, Kotze MJ. Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde. 92: 464-7. PMID 12146133  0.01
2002 Villéger L, Abifadel M, Allard D, Rabès JP, Thiart R, Kotze MJ, Béroud C, Junien C, Boileau C, Varret M. The UMD-LDLR database: additions to the software and 490 new entries to the database. Human Mutation. 20: 81-7. PMID 12124988 DOI: 10.1002/humu.10102  0.01
2002 Grobbelaar JJ, Wilken E, de Ravel TJ, Nicholson DL, Kotze MJ. Familial adenomatous polyposis in two Black South African families. Clinical Genetics. 61: 214-7. PMID 12000364 DOI: 10.1034/j.1399-0004.2002.610308.x  0.01
2002 Warnich L, Kimberg M, Kotze MJ, Ohashi T, Taketani S, Louw BJ. Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria. Cellular and Molecular Biology (Noisy-Le-Grand, France). 48: 57-60. PMID 11930946  0.01
2002 Van Gaal LF, Peeters AV, De Block CE, de Leeuw IH, Thiart R, Kotze MJ. Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics. Molecular and Cellular Probes. 15: 329-36. PMID 11851376 DOI: 10.1006/MCPR.2001.0378  0.01
2001 Warnich L, Waso HF, Groenewald IM, Bester AE, de Villiers JN, Kotze MJ, Lynch AG, Louw JH. Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation. Molecular and Cellular Probes. 15: 217-21. PMID 11513556 DOI: 10.1006/MCPR.2001.0360  0.01
2001 Julies MG, Moore SW, Kotze MJ, du Plessis L. Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. European Journal of Human Genetics : Ejhg. 9: 419-23. PMID 11436122 DOI: 10.1038/sj.ejhg.5200650  0.01
2001 Kotze MJ, de Villiers JN, Rooney RN, Grobbelaar JJ, Mansvelt EP, Bouwens CS, Carr J, Stander I, du Plessis L. Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects. Blood Cells, Molecules & Diseases. 27: 44-53. PMID 11358358 DOI: 10.1006/BCMD.2000.0349  0.01
2001 Durst R, Colombo R, Shpitzen S, Avi LB, Friedlander Y, Wexler R, Raal FJ, Marais DA, Defesche JC, Mandelshtam MY, Kotze MJ, Leitersdorf E, Meiner V. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. American Journal of Human Genetics. 68: 1172-88. PMID 11309683 DOI: 10.1086/320123  0.01
2001 Petersen DC, Kotze MJ, Zeier MD, Grimwood A, Pretorius D, Vardas E, van Rensburg EJ, Hayes VM. Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay. Aids (London, England). 15: 171-7. PMID 11216924 DOI: 10.1097/00002030-200101260-00005  0.01
2000 Thiart R, Varret M, Lintott CJ, Scott RS, Loubser O, du Plessis L, de Villiers JN, Boileau C, Kotze MJ. Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia. Molecular and Cellular Probes. 14: 299-304. PMID 11040093 DOI: 10.1006/MCPR.2000.0318  0.01
2000 Oberkanins C, Moritz A, de Villiers JN, Kotze MJ, Kury F. A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations. Genetic Testing. 4: 121-4. PMID 10953950 DOI: 10.1089/10906570050114812  0.01
2000 Thiart R, Scholtz CL, Vergotine J, Hoogendijk CF, de Villiers JN, Nissen H, Brusgaard K, Gaffney D, Hoffs MS, Vermaak WJ, Kotze MJ. Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. Journal of Medical Genetics. 37: 514-9. PMID 10882754 DOI: 10.1136/JMG.37.7.514  0.01
2000 Raal FJ, Pappu AS, Illingworth DR, Pilcher GJ, Marais AD, Firth JC, Kotze MJ, Heinonen TM, Black DM. Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia. Atherosclerosis. 150: 421-8. PMID 10856535 DOI: 10.1016/S0021-9150(99)00435-9  0.01
2000 van Rensburg SJ, Potocnik FC, De Villiers JN, Kotze MJ, Taljaard JJ. Earlier age of onset of Alzheimer's disease in patients with both the transferrin C2 and apolipoprotein E-epsilon 4 alleles. Annals of the New York Academy of Sciences. 903: 200-3. PMID 10818508 DOI: 10.1111/j.1749-6632.2000.tb06369.x  0.01
2000 Raal FJ, Pilcher GJ, Veller MG, Kotze MJ, Joffe BI. Efficacy of vitamin E compared with either simvastatin or atorvastatin in preventing the progression of atherosclerosis in homozygous familial hypercholesterolemia. The American Journal of Cardiology. 84: 1344-6, A7. PMID 10614803 DOI: 10.1016/S0002-9149(99)00570-6  0.01
2000 van Wyk R, Slezak P, Hayes VM, Buys CH, Kotze MJ, de Jong G, Rubio C, Dolk A, Jaramillo E, Koizumi K, Grobbelaar JJ. Somatic mutations of the APC, KRAS, and TP53 genes in nonpolypoid colorectal adenomas. Genes, Chromosomes & Cancer. 27: 202-8. PMID 10612810 DOI: 10.1002/(SICI)1098-2264(200002)27:2<202::AID-GCC13>3.0.CO;2-3  0.01
1999 van Wyk R, Slezak P, Kotze MJ, Jaramillo E, Koizumi K, Grobbelaar JJ. Multiple APC mutations in sporadic flat colorectal adenomas. European Journal of Human Genetics : Ejhg. 7: 928-32. PMID 10602369 DOI: 10.1038/sj.ejhg.5200386  0.01
1999 de Villiers JN, Kotze MJ. Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis. Blood Cells, Molecules & Diseases. 25: 250-2; discussion 25. PMID 10575550 DOI: 10.1006/BCMD.1999.0250  0.01
1999 Scholtz CL, Peeters AV, Hoogendijk CF, Thiart R, de Villiers JN, Hillermann R, Liu J, Marais AD, Kotze MJ. Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia. Human Molecular Genetics. 8: 2025-30. PMID 10484771 DOI: 10.1093/HMG/8.11.2025  0.01
1999 Rooney RN, Kotze MJ, de Villiers JN, Hillermann R, Cohen JA. Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent. American Journal of Medical Genetics. 86: 194-6. PMID 10449660 DOI: 10.1002/(SICI)1096-8628(19990910)86:2<194::AID-AJMG21>3.0.CO;2-C  0.01
1999 Peeters AV, Thiart R, de Villiers JN, Jensen HK, Van Gaal LF, Kotze MJ. Intronic mutations at splice junctions in the low-density lipoprotein receptor gene. Molecular and Cellular Probes. 13: 257-60. PMID 10441197 DOI: 10.1006/MCPR.1999.0244  0.01
1999 Kotze MJ, Callis M. Medped FH: a paradigm for other common monogenic diseases in South Africa. Atherosclerosis. 144: 467-8. PMID 10407509 DOI: 10.1016/S0021-9150(99)00096-9  0.01
1999 de Villiers JN, Hillermann R, Loubser L, Kotze MJ. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Human Molecular Genetics. 8: 1517-22. PMID 10401000 DOI: 10.1093/HMG/8.8.1517  0.01
1999 Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, Devillers M, Krempf M, Coulon M, Thiart R, Kotze MJ, Schmidt H, Buzzi JC, Kostner GM, Bertolini S, et al. A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. American Journal of Human Genetics. 64: 1378-87. PMID 10205269 DOI: 10.1086/302370  0.01
1999 Thiart R, Loubser O, de Villiers JN, Marx MP, Zaire R, Raal FJ, Kotze MJ. Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. Human Mutation. S232-3. PMID 9452095 DOI: 10.1002/HUMU.1380110174  0.01
1999 Kotze M, Scholtz C, Hillermann R, Thiart R. Heterogeneous distribution of two common MTHFR gene mutations in the diverse south African population correlates significantly with ethnic differences in cardiovascular disease risk Atherosclerosis. 144: 137. DOI: 10.1016/S0021-9150(99)80534-6  0.01
1998 Lingenhel A, Kraft HG, Kotze M, Peeters AV, Kronenberg F, Kruse R, Utermann G. Concentrations of the atherogenic Lp(a) are elevated in FH. European Journal of Human Genetics : Ejhg. 6: 50-60. PMID 9781014 DOI: 10.1038/SJ.EJHG.5200152  0.01
1998 Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L. Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families. Molecular and Cellular Probes. 12: 293-300. PMID 9778454 DOI: 10.1006/MCPR.1998.0188  0.01
1998 Kotze MJ, Peeters AV, Loubser O, Theart L, du Plessis L, Hayes VM, de Jong G, de Villiers JN, Lombard CJ, Hansen PS, Raal FJ. Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa. Clinical Genetics. 54: 74-8. PMID 9727745 DOI: 10.1111/j.1399-0004.1998.tb03698.x  0.01
1998 Callis M, Jansen S, Thiart R, de Villiers JN, Raal FJ, Kotze MJ. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations. Molecular and Cellular Probes. 12: 149-52. PMID 9664576 DOI: 10.1006/MCPR.1998.0164  0.01
1998 Thiart R, Loubser O, de Villiers JN, Santos M, Kotze MJ. Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family. Molecular and Cellular Probes. 11: 457-8. PMID 9500809 DOI: 10.1006/MCPR.1997.0134  0.01
1998 van Rensburg EJ, Engelbrecht S, van Heerden WF, Kotze MJ, Raubenheimer EJ. Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample. Human Mutation. 11: 39-44. PMID 9450901 DOI: 10.1002/(SICI)1098-1004(1998)11:1<39::AID-HUMU6>3.0.CO;2-G  0.01
1998 Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, Rubinsztein DC. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. Journal of Medical Genetics. 34: 982-5. PMID 9429138 DOI: 10.1136/jmg.34.12.982  0.01
1998 Varret M, Rabés JP, Thiart R, Kotze MJ, Baron H, Cenarro A, Descamps O, Ebhardt M, Hondelijn JC, Kostner GM, Miyake Y, Pocovi M, Schmidt H, Schuster H, Stuhrmann M, et al. LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis. Nucleic Acids Research. 26: 248-52. PMID 9399845 DOI: 10.1093/nar/26.1.248  0.01
1998 Reich B, Ehlers I, Will H, Heesen C, de Villiers J, Rooney R, Kotze M. Autoantibodies against nucleolar structures correlate significantly with an unusual association between multiple sclerosis and porphyria symptoms Journal of Neuroimmunology. 90: 77. DOI: 10.1016/S0165-5728(98)91639-3  0.01
1997 Ehrenborg E, Clee SM, Pimstone SN, Reymer PW, Benlian P, Hoogendijk CF, Davis HJ, Bissada N, Miao L, Gagné SE, Greenberg LJ, Henry R, Henderson H, Ordovas JM, Schaefer EJ, ... ... Kotze MJ, et al. Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene. Arteriosclerosis, Thrombosis, and Vascular Biology. 17: 2672-8. PMID 9409241 DOI: 10.1161/01.Atv.17.11.2672  0.01
1997 Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ. Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics. Human Genetics. 100: 266-70. PMID 9254862 DOI: 10.1007/s004390050503  0.01
1997 Kotze MJ, Loubser O, Thiart R, de Villiers JN, Langenhoven E, Theart L, Steyn K, Marais AD, Raal FJ. CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians. Clinical Genetics. 51: 394-8. PMID 9237502 DOI: 10.1111/j.1399-0004.1997.tb02497.x  0.01
1997 Kotze MJ, de Villiers JN, Loubser O, Thiart R, Scholtz CL, Raal FJ. A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia. Human Genetics. 100: 101-3. PMID 9225977 DOI: 10.1007/s004390050473  0.01
1997 Hayes VM, Oosthuizen CJ, Kotze MJ, Marx MP, Buys CH. A nonsense mutation (Arg-196-Term) in exon 6 of the human TP53 gene identified in small cell lung carcinoma. Molecular and Cellular Probes. 10: 393-5. PMID 8910896 DOI: 10.1006/MCPR.1996.0054  0.01
1997 Langenhoven E, Warnich L, Thiart R, Rubinsztein DC, van der Westhuyzen DR, Marais AD, Kotze MJ. Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote. Atherosclerosis. 125: 111-9. PMID 8831933 DOI: 10.1016/0021-9150(96)05871-6  0.01
1997 Peeters A, Scholtz C, Kotze M. 1.P.306 Cardiovascular risk in patients with familial hypercholesterolemia Atherosclerosis. 134: 81. DOI: 10.1016/S0021-9150(97)88484-5  0.01
1996 du Plessis L, Kotze MJ. Detection of the PvuII RFLP in intron 15 of the LDL receptor gene by long-distance PCR. Clinical Genetics. 49: 277-8. PMID 8832139 DOI: 10.1111/j.1399-0004.1996.tb03788.x  0.01
1996 Warnich L, Kotze MJ, Groenewald IM, Groenewald JZ, van Brakel MG, van Heerden CJ, de Villiers JN, van de Ven WJ, Schoenmakers EF, Taketani S, Retief AE. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Human Molecular Genetics. 5: 981-4. PMID 8817334 DOI: 10.1093/HMG/5.7.981  0.01
1996 Steyn K, Goldberg YP, Kotze MJ, Steyn M, Swanepoel AS, Fourie JM, Coetzee GA, Van der Westhuyzen DR. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Human Genetics. 98: 479-84. PMID 8792826 DOI: 10.1007/s004390050243  0.01
1996 Kotze MJ, Thiart R, Loubser O, de Villiers JN, Santos M, Vargas MA, Peeters AV. Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene. Human Genetics. 98: 476-8. PMID 8792825 DOI: 10.1007/s004390050242  0.01
1996 Grobbelaar JJ, Ziskind A, de Jong G, Oosthuizen CJ, Kotze MJ. A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family. Journal of Medical Genetics. 33: 384-6. PMID 8733048 DOI: 10.1136/jmg.33.5.384  0.01
1996 Kotze MJ, Grobbelaar JJ, Madden MV. Identification of a novel single base insertion in the adenomatous polyposis coli gene. Human Mutation. 7: 68-9. PMID 8664905 DOI: 10.1002/(SICI)1098-1004(1996)7:1<68::AID-HUMU11>3.0.CO;2-Q  0.01
1995 Van Roggen JFG, Van der Westhuyzen DR, Coetzee GA, Marais AD, Steyn K, Langenhoven E, Kotze MJ. FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia Arteriosclerosis, Thrombosis, and Vascular Biology. 15: 765-772. PMID 7773731  0.01
1995 Grobbelaar JJ, Oosthuizen CJ, Kotze MJ. Screening South African familial adenomatous polyposis families for the five-nucleotide deletion at codon 1309 of the APC gene. Molecular and Cellular Probes. 9: 49-51. PMID 7760860 DOI: 10.1016/S0890-8508(95)91007-7  0.01
1995 Kotze MJ, Peeters AV, Langenhoven E, Wauters JG, Van Gaal LF. Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. Atherosclerosis. 111: 217-25. PMID 7718024 DOI: 10.1016/0021-9150(94)90096-5  0.01
1995 Kotze MJ, Langenhoven E, Peeters AV, Theart L, Oosthuizen CJ. Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis. Molecular and Cellular Probes. 8: 513-8. PMID 7700273 DOI: 10.1006/MCPR.1994.1072  0.01
1995 Theart L, Kotze MJ, Langenhoven E, Loubser O, Peeters AV, Lintott CJ, Scott RS. Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation. Journal of Medical Genetics. 32: 379-82. PMID 7616546 DOI: 10.1136/jmg.32.5.379  0.01
1995 Peeters AV, Van Gaal LF, Kotze MJ. A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene. Clinical Genetics. 47: 101-2. PMID 7606839 DOI: 10.1111/J.1399-0004.1995.TB03933.X  0.01
1995 Pimstone SN, Gagné SE, Gagné C, Lupien PJ, Gaudet D, Williams RR, Kotze M, Reymer PW, Defesche JC, Kastelein JJ. Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia. Arteriosclerosis, Thrombosis, and Vascular Biology. 15: 1704-12. PMID 7583547 DOI: 10.1161/01.Atv.15.10.1704  0.01
1995 Kotze MJ, Theart L, Peeters A, Langenhoven E. A de novo duplication in the low density lipoprotein receptor gene. Human Mutation. 6: 181-3. PMID 7581403 DOI: 10.1002/HUMU.1380060212  0.01
1995 Kotze MJ, Theart L, Callis M, Peeters AV, Thiart R, Langenhoven E. Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations. Pcr Methods and Applications. 4: 352-6. PMID 7580929 DOI: 10.1101/GR.4.6.352  0.01
1995 Peeters AV, Kotze MJ. Improved heteroduplex detection of single-base substitutions in PCR-amplified DNA. Pcr Methods and Applications. 4: 188-90. PMID 7580905 DOI: 10.1101/GR.4.3.188  0.01
1995 Peeters AV, Van Gaal LF, Theart L, Langenhoven E, Kotze MJ. Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms. Human Genetics. 96: 401-6. PMID 7557960 DOI: 10.1007/BF00191796  0.01
1995 Peeters A, Kotze M, Van Gaal L. Analysis of low density lipoprotein receptor gene mutations in Belgians with type IIA hyperlipidemia Atherosclerosis. 115: S84. DOI: 10.1016/0021-9150(95)96569-E  0.01
1995 Kotze M, de Waal L, Raal F. High prevalence of a 5′-distal promotor mutation in South African black familial hypercholesterolemics Atherosclerosis. 115: S4. DOI: 10.1016/0021-9150(95)96266-U  0.01
1994 Scott R, Lintott C, Lu H, Langenhoven E, Kotze M. Composition, peroxidation and treatment response of LDL amongst phenotypic FH subjects with either FDB or LDL receptor abnormalities Atherosclerosis. 109: 39. DOI: 10.1016/0021-9150(94)93168-2  0.01
1993 Kotze MJ, De Villiers WJS, Steyn K, Kriek JA, Marais AD, Langenhoven E, Herbert JS, Graadt Van Roggen JF, Van Der Westhuyzen DR, Coetzee GA. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two afrikaner founder LDL receptor mutations Arteriosclerosis, Thrombosis, and Vascular Biology. 13: 1460-1468. PMID 8399083  0.01
1993 Kotze MJ, Davis HJ, Bissbort S, Langenhoven E, Brusnicky J, Oosthuizen CJ. Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling. Clinical Genetics. 43: 295-9. PMID 8370148 DOI: 10.1111/j.1399-0004.1993.tb03821.x  0.01
1992 Warnich L, Kotze MJ, Langenhoven E, Retief AE. Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene. Human Genetics. 89: 362. PMID 1601429 DOI: 10.1007/BF00220563  0.01
1992 Kriek JA, Steyn K, Weight MJ, Kotze MJ, van Zyl LJ. Response to treatment with simvastatin in a compound FH heterozygote. Atherosclerosis. 93: 165-7. PMID 1596300 DOI: 10.1016/0021-9150(92)90212-Y  0.01
1992 Kotze MJ, Langenhoven E, Kriek JA, Oosthuizen CJ, Retief AE. DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia. Clinical Genetics. 42: 43-6. PMID 1516226 DOI: 10.1111/j.1399-0004.1992.tb03135.x  0.01
1991 Kotze MJ, Langenhoven E, Warnich L, du Plessis L, Retief AE. The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners. Annals of Human Genetics. 55: 115-21. PMID 1952806 DOI: 10.1111/j.1469-1809.1991.tb00404.x  0.01
1990 Kotze MJ, Warnich L, Langenhoven E, du Plessis L, Retief AE. An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics. Journal of Medical Genetics. 27: 298-302. PMID 2352257 DOI: 10.1136/jmg.27.5.298  0.01
1989 Henderson HE, Kotze MJ, Berger GM. Multiple mutations underlying familial hypercholesterolemia in the South African population. Human Genetics. 83: 67-70. PMID 2570020 DOI: 10.1007/BF00274151  0.01
1989 Kotze MJ, Langenhoven E, Retief AE, Seftel HC, Henderson HE, Weich HF. Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus. Journal of Medical Genetics. 26: 255-9. PMID 2565980 DOI: 10.1136/jmg.26.4.255  0.01
1988 Kotze MJ, Langenhoven E, Retief AE, Steyn K, Marais MP, Grobbelaar JJ, Oosthuizen CJ, Weich HF, Benadé AJ. Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia. Journal of Medical Genetics. 24: 750-5. PMID 3430554 DOI: 10.1136/jmg.24.12.750  0.01
1988 Kotze MJ, Langenhoven E, Retief AE. Improved visualization of the Bst EII RFLP of the human LDL receptor gene by co-digestion. Nucleic Acids Research. 15: 10067. PMID 2892164 DOI: 10.1093/NAR/15.23.10067  0.01
1987 Dietzsch E, Retief AE, Fricke J, Du Plessis L, Kotze MJ, Nicholson DL, Brusnický J. Isolation of an anonymous single copy probe D4S66 (E24) from chromosome 4 associated with a three allele RFLP Nucleic Acids Research. 15: 861. PMID 2881262 DOI: 10.1093/nar/15.2.861  0.01
1987 Kotze MJ, Langenhoven E, Dietzsch E, Retief AE. A RFLP associated with the low-density lipoprotein receptor gene (LDLR). Nucleic Acids Research. 15: 376. PMID 2881253 DOI: 10.1093/nar/15.1.376  0.01
1987 Dietzsch E, Retief AE, Fricke J, Plessis LD, Nicholson DL, Kotze MJ. Frequent RFLP recognised by an anonymous sequence localise to 11q13 - q14[D11S. 3.7.(E79)] Nucleic Acids Research. 15: 2400. DOI: 10.1093/nar/15.5.2400  0.01
1986 Dietzsch E, Retief AE, Warnich L, Kotze MJ, Nicholson DL, Fox MF, Vermaak LK, Rich T, Oosthuizen CJJ. An anonymous human single copy genomic clone (D8S5) (TL11) on chromosome 8 identifies a moderately frequent RFLP Nucleic Acids Research. 14: 6781. PMID 3018683 DOI: 10.1093/nar/14.16.6781  0.01
1986 Dietzsch E, Retief AE, Warnich L, Kotze MJ, Nicholson DL, Fox MF, Bantjes W, Heyns DA, Oosthuizen CJJ. An anonymous single copy genomic clone (M8) (D2S13) on chromosome 2 identifies a moderately frequent RFLP Nucleic Acids Research. 14: 6780. PMID 3018682 DOI: 10.1093/nar/14.16.6780  0.01
1986 Warnich L, Kotze MJ, Retief AE, Dietzsch E, Fox MF, Kotze GM, Nicholson DL, Retief E, Oosthuizen CJJ. An anonymous human single copy genomic clone, D11S29 (l7) at 11q23, identifies a moderately frequent RFLP Nucleic Acids Research. 14: 1920. PMID 3005985 DOI: 10.1093/nar/14.4.1920  0.01
1986 Dietzsch E, Retief AE, Du Plessis L, Fricke J, Kotze MJ, Nicholson DL, Kotzé GM. A three-allele RFLP recognised by an anonymous sequence localized to 3pl4 - p21 [D3S11 (E41)] Nucleic Acids Research. 14: 8698. PMID 2878414 DOI: 10.1093/nar/14.21.8698  0.01
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