Kotze MJ - Search Results

1

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L, Abifadel M, Allard D, Rabès JP, Thiart R, Kotze MJ, Béroud C, Junien C, Boileau C, Varret M. Villéger L, et al. Among authors: kotze mj. Hum Mutat. 2002 Aug;20(2):81-7. doi: 10.1002/humu.10102. Hum Mutat. 2002. PMID: 12124988 Review.

2

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

Varret M, Rabés JP, Thiart R, Kotze MJ, Baron H, Cenarro A, Descamps O, Ebhardt M, Hondelijn JC, Kostner GM, Miyake Y, Pocovi M, Schmidt H, Schuster H, Stuhrmann M, Yamamura T, Junien C, Béroud C, Boileau C. Varret M, et al. Among authors: kotze mj. Nucleic Acids Res. 1998 Jan 1;26(1):248-52. doi: 10.1093/nar/26.1.248. Nucleic Acids Res. 1998. PMID: 9399845 Free PMC article.

3

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, Devillers M, Krempf M, Coulon M, Thiart R, Kotze MJ, Schmidt H, Buzzi JC, Kostner GM, Bertolini S, Pocovi M, Rosa A, Farnier M, Martinez M, Junien C, Boileau C. Varret M, et al. Among authors: kotze mj. Am J Hum Genet. 1999 May;64(5):1378-87. doi: 10.1086/302370. Am J Hum Genet. 1999. PMID: 10205269 Free PMC article.

4

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

Thiart R, Varret M, Lintott CJ, Scott RS, Loubser O, du Plessis L, de Villiers JN, Boileau C, Kotze MJ. Thiart R, et al. Among authors: kotze mj. Mol Cell Probes. 2000 Oct;14(5):299-304. doi: 10.1006/mcpr.2000.0318. Mol Cell Probes. 2000. PMID: 11040093

5

Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease.

Kotze MJ, Kriegshäuser G, Thiart R, de Villiers NJ, Scholtz CL, Kury F, Moritz A, Oberkanins C. Kotze MJ, et al. Mol Diagn. 2003;7(3-4):169-74. doi: 10.1007/BF03260034. Mol Diagn. 2003. PMID: 15068387

6

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

7

A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.

Kotze MJ, de Villiers JN, Loubser O, Thiart R, Scholtz CL, Raal FJ. Kotze MJ, et al. Hum Genet. 1997 Jul;100(1):101-3. doi: 10.1007/s004390050473. Hum Genet. 1997. PMID: 9225977

8

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.

Thiart R, Loubser O, de Villiers JN, Marx MP, Zaire R, Raal FJ, Kotze MJ. Thiart R, et al. Among authors: kotze mj. Hum Mutat. 1998;Suppl 1:S232-3. doi: 10.1002/humu.1380110174. Hum Mutat. 1998. PMID: 9452095 No abstract available.

9

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

10

Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population.

Vergotine J, Thiart R, Kotze MJ. Vergotine J, et al. Among authors: kotze mj. S Afr Med J. 2001 Dec;91(12):1053-9. S Afr Med J. 2001. PMID: 11845603

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