Marais AD - Search Results

1

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

Meldau S, De Lacy RJ, Riordan GTM, Goddard EA, Pillay K, Fieggen KJ, Marais AD, Van der Watt GF. Meldau S, et al. Among authors: marais ad. Clin Genet. 2018 May;93(5):1093-1096. doi: 10.1111/cge.13208. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29318572

2

Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.

Graadt van Roggen F, van der Westhuyzen DR, Marais AD, Gevers W, Coetzee GA. Graadt van Roggen F, et al. Among authors: marais ad. Hum Genet. 1991 Dec;88(2):204-8. doi: 10.1007/BF00206073. Hum Genet. 1991. PMID: 1757095

3

A new LDL receptor gene deletion mutation in the South African population.

Henderson HE, Berger GM, Marais AD. Henderson HE, et al. Among authors: marais ad. Hum Genet. 1988 Dec;80(4):371-4. doi: 10.1007/BF00273653. Hum Genet. 1988. PMID: 3198114

4

CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.

Kotze MJ, Loubser O, Thiart R, de Villiers JN, Langenhoven E, Theart L, Steyn K, Marais AD, Raal FJ. Kotze MJ, et al. Among authors: marais ad. Clin Genet. 1997 Jun;51(6):394-8. doi: 10.1111/j.1399-0004.1997.tb02497.x. Clin Genet. 1997. PMID: 9237502

5

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

Loubser O, Marais AD, Kotze MJ, Godenir N, Thiart R, Scholtz CL, de Villiers JN, Hillermann R, Firth JC, Weich HF, Maritz F, Jones S, van der Westhuyzen DR. Loubser O, et al. Among authors: marais ad. Clin Genet. 1999 May;55(5):340-5. doi: 10.1034/j.1399-0004.1999.550507.x. Clin Genet. 1999. PMID: 10422804

6

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: marais ad. Hum Mol Genet. 1999 Oct;8(11):2025-30. doi: 10.1093/hmg/8.11.2025. Hum Mol Genet. 1999. PMID: 10484771

7

Familial hypercholesterolemia in South Africa.

Marais AD, Firth JC, Blom DJ. Marais AD, et al. Semin Vasc Med. 2004 Feb;4(1):93-5. doi: 10.1055/s-2004-822991. Semin Vasc Med. 2004. PMID: 15199438

8

Familial hypercholesterolaemia in South Africa: A reminder.

Marais AD, Blom DJ, Raal FJ, The Lipid And Atherosclerosis Society Of Southern Africa OBOTLA. Marais AD, et al. S Afr Med J. 2021 Aug 2;111(8):700-701. doi: 10.7196/SAMJ.2021.v111i8.15782. S Afr Med J. 2021. PMID: 35227347 No abstract available.

9

Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

Rubinsztein DC, Coetzee GA, Marais AD, Leitersdorf E, Seftel HC, van der Westhuyzen DR. Rubinsztein DC, et al. Among authors: marais ad. J Lipid Res. 1992 Nov;33(11):1647-55. J Lipid Res. 1992. PMID: 1464748 Free article.

10

Phytosterolaemia in three unrelated South African families.

Berger GM, Deppe WM, Marais AD, Biggs M. Berger GM, et al. Among authors: marais ad. Postgrad Med J. 1994 Sep;70(827):631-7. doi: 10.1136/pgmj.70.827.631. Postgrad Med J. 1994. PMID: 7971627 Free PMC article.

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