Kotze MJ - Search Results

1

Genetic origins of lactase persistence and the spread of pastoralism in Africa.

Ranciaro A, Campbell MC, Hirbo JB, Ko WY, Froment A, Anagnostou P, Kotze MJ, Ibrahim M, Nyambo T, Omar SA, Tishkoff SA. Ranciaro A, et al. Among authors: kotze mj. Am J Hum Genet. 2014 Apr 3;94(4):496-510. doi: 10.1016/j.ajhg.2014.02.009. Epub 2014 Mar 13. Am J Hum Genet. 2014. PMID: 24630847 Free PMC article.

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

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene.

Kotze MJ, Thiart R, Loubser O, de Villiers JN, Santos M, Vargas MA, Peeters AV. Kotze MJ, et al. Hum Genet. 1996 Oct;98(4):476-8. doi: 10.1007/s004390050242. Hum Genet. 1996. PMID: 8792825

5

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

6

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.

Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ. Peeters AV, et al. Among authors: kotze mj. Hum Genet. 1997 Aug;100(2):266-70. doi: 10.1007/s004390050503. Hum Genet. 1997. PMID: 9254862

7

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

de Villiers JN, Hillermann R, Loubser L, Kotze MJ. de Villiers JN, et al. Among authors: kotze mj. Hum Mol Genet. 1999 Aug;8(8):1517-22. doi: 10.1093/hmg/8.8.1517. Hum Mol Genet. 1999. PMID: 10401000

8

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

9

Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload.

Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Zaahl MG, et al. Among authors: kotze mj. Hum Genet. 2005 Dec;118(3-4):548-9. Hum Genet. 2005. PMID: 16521311 No abstract available.

10

Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload.

Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Zaahl MG, et al. Among authors: kotze mj. Hum Genet. 2005 Dec;118(3-4):549. Hum Genet. 2005. PMID: 16521312 No abstract available.

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