Search Results - "Kotze, M.J"

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 by Moremi, K.E., Scott, C.J., de Jager, L.J., Pienaar, R., Zemlin, A.E., Kotze, M.J.

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P142 Functional impact of a rare germline TP53 variant (NM_001126114.2, c.1018A>G, p.N340D) in a family with the Li-Fraumeni-like syndrome by Olivier, D.W., Christowitz, C., van der Merwe, N., Glanzmann, B., McGregor, N.W., van Rensburg, E.J., Oosthuizen, J., van der Merwe, N.C., Kotze, M.J., Pienaar, F.M., Engelbrecht, A.-M.

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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 by Mampunye, I., Grant, K.A., Peeters, A.V., Torrorey-Sawe, R., French, D.J., Moremi, K.E., Kidd, M., van Eeden, P.C., Pienaar, F.M., van der Merwe, N.C., Kotze, M.J.

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Pharmacogenetics of Aromatase Inhibitors in Endocrine Responsive Breast Cancer: Lessons Learnt from Tamoxifen and CYP2D6 Genotyping by Baatjes, K J, Conradie, M, Apffelstaedt, J P, Kotze, M J

“…Genetics play a significant role in drug metabolism of endocrine therapy of breast cancer. These aspects have been studied extensively in patients on…”
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P055 Clinical dilemma of contradictory HER2 results in breast cancer resolved by microarrays by Kotze, M.J, Murray, E, Lukhoff, H.K, Grant, K

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P275 Implications of discordance between reference genomes applied in breast cancer exome sequencing by Merwe, N. Van Der, Peeters, A, Rensburg, S.J. Van, Pienaar, R, Bezuidenhout, J, Kotze, M.J

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Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa : the new millennium by Kotze, M.J., Kotze, M.J.

“…Background. Genetic testing has evolved from a niche speciality for diagnosis of rare disorders and carrier screening to subtyping of complex medical…”
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P068 - Family screening and data sharing towards variant classification of TP c.1018A>G (N340D) that targets isoform beta by Kotze, M.J., Peeters, A., Pienaar, R., Baatjes, K.J.

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Family screening and data sharing towards variant classification of TP c.1018A>G (N340D) that targets isoform beta by Kotze, M.J., Peeters, A., Pienaar, R., Baatjes, K.J.

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P117 - 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 by Moremi, K.E., Scott, C.J., de Jager, L.J., Pienaar, R., Zemlin, A.E., Kotze, M.J.

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Metachronous Onset of Breast and Bladder Cancer Associated with the BRCA2 c.8162delG Founder Mutation Detected in a Patient with a Low MammaPrint Recurrence Risk by Mampunye, L, Moremi, K.E, Torrorey-Sawe, R, Grant, K.A, Kotze, M.J

“…Restricting genetic screening programs to cancer patients fulfilling high-risk criteria may limit the identification of genes with pleiotropic function…”
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P061 - Investigation of the role of vitamin D metabolism in South African breast cancer patients using whole exome sequencing by Okunola, A., Torrorey-Sawe, R., Baatjes, K.J., Zemlin, A.E., Erasmus, R.T., Kotze, M.J.

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Investigation of the role of vitamin D metabolism in South African breast cancer patients using whole exome sequencing by Okunola, A., Torrorey-Sawe, R., Baatjes, K.J., Zemlin, A.E., Erasmus, R.T., Kotze, M.J.

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P032 - 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 by Mampunye, I., Grant, K.A., Peeters, A.V., Torrorey-Sawe, R., French, D.J., Moremi, K.E., Kidd, M., van Eeden, P.C., Pienaar, F.M., van der Merwe, N.C., Kotze, M.J.

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FH Afrikaner-3 LDL Receptor Mutation Results in Defective LDL Receptors and Causes a Mild Form of Familial Hypercholesterolemia by van Roggen, J.F. Graadt, van der Westhuyzen, D.R, Coetzee, G.A, Marais, A.D, Steyn, K, Langenhoven, E, Kotze, M.J

“…Three founder-related gene mutations (FH Afrikaner-1, -2, and -3) that affect the LDL receptor are responsible for 90% of the familial hypercholesterolemia…”
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Familial hypercholesterolaemia workshop for leveraging point-of-care testing and personalised medicine in association with the Lipid and Atherosclerosis Society of Southern Africa by Marais, A.D., Kotze, M.J, Raal, F.J., Khine, A.A., Humphries, S.E., Talmud, P.J.

“…Familial hypercholesterolaemia (FH) is a common autosomal dominantly inherited disorder in which impaired clearance of plasma low-density lipoprotein…”
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MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer : research by Wright, C., Kotze, M.J., De Klerk, M., Myburgh, E., Wright, C., Pienaar, R., Apffelstaedt, J.P., Grant, K.A., Grant, K.A., Myburgh, E.

“…Background. Clinical and pathological parameters may overestimate the need for chemotherapy in patients with early-stage breast cancer. More accurate…”
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MammaPrint Pre-screen Algorithm by Myburgh, E, Pienaar, R, Wright, C, de Klerk, M, Grant, K.A, Kotze, M.J, Apffelstaedt, J.P

“…Background. Clinical and pathological parameters may overestimate the need for chemotherapy in patients with early-stage breast cancer. More accurate…”
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Volatiles associated with different flower stages and leaves of Acacia cyclops and their potential role as host attractants for Dasineura dielsi (Diptera: Cecidomyiidae) by Kotze, M.J., Jürgens, A., Johnson, S.D., Hoffmann, J.H.

“…Acacia cyclops (Fabaceae) is an Australian species which was introduced into South Africa in the nineteenth century. Because of its invasive status in South…”
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MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer by Grant, Kathleen A, Apffelstaedt, Justus P, Wright, Colleen A, Myburgh, Ettienne, Pienaar, Rika, De Klerk, Manie, Kotze, Maritha J

“…Clinical and pathological parameters may overestimate the need for chemotherapy in patients with early-stage breast cancer. More accurate determination of the…”
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