Výsledky vyhledávání - "Oosthuizen, C. J. J"

Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners

Autor: Martha Kotze, Langenhoven, E., Theart, L., Loubser, O., Micklem, A., Oosthuizen, C. J. J.

Publikováno v: South African Medical Journal; Vol 85, No 5 (1995)
Europe PubMed Central
Scopus-Elsevier

Three low-density lipoprotein receptor (LDLR) gene mutations were previously shown to cause familial hypercholesterolaemia (FH) in up to 90% of affected Afrikaners. Association of each mutation with a single chromosomal background provided molecular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::795fb70f1cbdf78ab7f96b6ab315a3fe
https://www.ajol.info/index.php/samj/article/view/155770

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Akademický článek

Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling.

Autor: Kotze, M. J., Davis, H. J., Bissbort, S., Langenhoven, E., Brusnicky, J., Oosthuizen, C. J. J.

Publikováno v: Clinical Genetics; Jun1993, Vol. 43 Issue 6, p295-299, 5p

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Akademický článek

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia.

Autor: Kotze, M. J., Langenhoven, E., Kriek, J. A., Oosthuizen, C. J. J., Retief, A. E.

Publikováno v: Clinical Genetics; Jul1992, Vol. 42 Issue 1, p43-46, 4p

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Periodical

Deletion mapping of 39 random isolated Y-chromosome DNA fragments

Autor: Oosthuizen, C. J. J., Herbert, J. S., Vermaak, L. K., Brusnicky, J., Fricke, J., Plessis, L., Retief, A. E.

Publikováno v: Human Genetics; July 1990, Vol. 85 Issue: 2 p205-210, 6p

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Periodical

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

Autor: Kotze, M. J, De Villiers, J. N. P, Groenewald, J. Z, Rooney, R. N, Loubser, O, Thiart, R, Oosthuizen, C. J. J, van Niekerk, M. M, Groenewald, I. M, Retief, A. E, Warnich, L

Publikováno v: Molecular and Cellular Probes; October, 1998, Vol. 12 Issue: 5 p293-300, 8p

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Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners

Autor: Martha Kotze, Langenhoven, E., Theart, L., Marx, M. P., Oosthuizen, C. J. J.

Publikováno v: Europe PubMed Central
Scopus-Elsevier

The development of DNA-based methods for the direct detection of specific low density lipoprotein receptor (LDLR) gene mutations enabled us to establish a molecular diagnostic service for familial hypercholesterolemia (FH). This specialised service i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9e2a6d8a2dda6e4d5c4f75caca7b4059
http://europepmc.org/abstract/med/8031531

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The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia

Autor: Martha Kotze, Langenhoven, E., Warnich, L., Du Plessis, L., Marx, M. P., Oosthuizen, C. J. J., Retief, A. E.

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1b4765e6bafaddad8c79e23b85c8f441
http://www.scopus.com/inward/record.url?eid=2-s2.0-0024398418&partnerID=MN8TOARS

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Presymptomatic diagnosis of familial adenomatous polyposis using intragenic polymorphisms and CA repeats flanking the APC gene

Autor: Hayes, V. M., Kotze, M. J., Grobbelaar, J. J., Madden, M. V., Rajkumar Ramesar, Oosthuizen, C. J. J.

Publikováno v: Web of Science
Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::27a724a71b567ee33f736677fa70774b
https://publons.com/wos-op/publon/10570760/

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