Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

Autor: Hoogendijk, C.F, Scholtz, C.L, Pimstone, S.M, Ehrenborg, E, Kastelein, J.J P, Defesche, J.C, Thiart, R, du Plessis, L, de Villiers, J.N.P, Zaahl, M.G, Delport, R, Rubinsztein, D.C, Raffel, L.J, Grim, C.E, Mediene-Benchekor, S, Amouyel, P, Brousseau, T, Steyn, K, Lombard, C.J, Hayden, M.R, Kotze, M.J ^∗

Publikováno v: In Molecular and Cellular Probes 2003 17(4):175-181

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia

Autor: Thiart, R, Varret, M, Lintott, CJ, Scott, RS, Loubser, O, du Plessis, L, de Villiers, JNP, Boileau, C, Kotze, MJ

Publikováno v: In Molecular and Cellular Probes October 2000 14(5):299-304

Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project.

Autor: De Klerk M; Health Care Leadership, University of Stellenbosch Business School, Cape Town, South Africa., Van Der Merwe N; Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; FamGen Counselling, Bloemfontein, South Africa., Erasmus J; Momentum Group, Cape Town, South Africa., Whati L; Gknowmix (Pty) Ltd., Cape Town, South Africa., Moremi KE; Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Division of Chemical Pathology, Department of Pathology, National Health Laboratory Service, Tygerberg Hospital, Cape Town, South Africa., Olivier DW; Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa., Kotze MJ; Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

Publikováno v: Annals of human genetics [Ann Hum Genet] 2024 Oct 29. Date of Electronic Publication: 2024 Oct 29.

Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population

Autor: Vergotine, J., Thiart, R., Langenhoven, E., Hillermann, R., Jong, G., Martha Kotze

Publikováno v: Europe PubMed Central
Scopus-Elsevier

In this report on the outcome of the first prenatal diagnosis performed for familial hypercholesterolemia (FH) in a South African family, we aim to demonstrate the value of a population-directed screening strategy to identify FH patients in populatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e984c379a8502208accb27a8990ea6f8
https://pubmed.ncbi.nlm.nih.gov/11491306

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Autor: Varret, M., Rabes, J.P., Thiart, R., Kotze, M.J., Baron, H., Cenarro, A., Descamps, O., Ebhardt, M., Hondelijn, J.C., Kostner, G.M., Miyake, Y., Pocovi, M., Schmidt, H., Schuster, H., Stuhrmann, M., Yamamura, T., Junien, C., Beroud, C., Boileau, C.

Publikováno v: Nucleic Acids Research 26 (1): 248-252.

Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), a common autosomal dominant disorder. The LDLR database is a computerized tool that has been developed to provide tools to analyse the numerous mutations that have be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=mdc______med::0e505cfbbbc10bddeb38dce2f2496531
http://edoc.mdc-berlin.de/3573/