Kotze MJ - Search Results

1

Expression of the SLC11A1 (NRAMP1) 5'-(GT)n repeat: opposite effect in the presence of -237C-->T.

Zaahl MG, Robson KJ, Warnich L, Kotze MJ. Zaahl MG, et al. Among authors: kotze mj. Blood Cells Mol Dis. 2004 Jul-Aug;33(1):45-50. doi: 10.1016/j.bcmd.2004.04.003. Blood Cells Mol Dis. 2004. PMID: 15223010

2

Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene.

Warnich L, Kotze MJ, Langenhoven E, Retief AE. Warnich L, et al. Among authors: kotze mj. Hum Genet. 1992 May;89(3):362. doi: 10.1007/BF00220563. Hum Genet. 1992. PMID: 1601429

3

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners.

Kotze MJ, Langenhoven E, Warnich L, du Plessis L, Retief AE. Kotze MJ, et al. Ann Hum Genet. 1991 May;55(2):115-21. doi: 10.1111/j.1469-1809.1991.tb00404.x. Ann Hum Genet. 1991. PMID: 1952806

4

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

Kotze MJ, Warnich L, Langenhoven E, du Plessis L, Retief AE. Kotze MJ, et al. J Med Genet. 1990 May;27(5):298-302. doi: 10.1136/jmg.27.5.298. J Med Genet. 1990. PMID: 2352257 Free PMC article.

5

Molecular characterisation of a low-frequency mutation in exon 8 of the human low-density lipoprotein receptor gene.

Kotze MJ, Langenhoven E, Warnich L, Marx MP, Retief AE. Kotze MJ, et al. S Afr Med J. 1989 Oct 21;76(8):402-5. S Afr Med J. 1989. PMID: 2572061

6

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

Kotze MJ, Langenhoven E, Warnich L, du Plessis L, Marx MP, Oosthuizen CJ, Retief AE. Kotze MJ, et al. S Afr Med J. 1989 Oct 21;76(8):399-401. S Afr Med J. 1989. PMID: 2799589

7

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

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. Warnich L, et al. Among authors: kotze mj. Hum Mol Genet. 1996 Jul;5(7):981-4. doi: 10.1093/hmg/5.7.981. Hum Mol Genet. 1996. PMID: 8817334

8

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

Langenhoven E, Warnich L, Thiart R, Rubinsztein DC, van der Westhuyzen DR, Marais AD, Kotze MJ. Langenhoven E, et al. Among authors: kotze mj. Atherosclerosis. 1996 Aug 23;125(1):111-9. doi: 10.1016/0021-9150(96)05871-6. Atherosclerosis. 1996. PMID: 8831933

9

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.

Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L. Kotze MJ, et al. Mol Cell Probes. 1998 Oct;12(5):293-300. doi: 10.1006/mcpr.1998.0188. Mol Cell Probes. 1998. PMID: 9778454

10

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.

Scholtz CL, Peeters AV, Hoogendijk CF, Thiart R, de Villiers JN, Hillermann R, Liu J, Marais AD, Kotze MJ. Scholtz CL, et al. Among authors: kotze mj. Hum Mol Genet. 1999 Oct;8(11):2025-30. doi: 10.1093/hmg/8.11.2025. Hum Mol Genet. 1999. PMID: 10484771

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