Loubser O - Search Results

1

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr, Hayden MR. Brooks-Wilson A, et al. Among authors: loubser o. Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905. Nat Genet. 1999. PMID: 10431236

2

The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease.

Clee SM, Loubser O, Collins J, Kastelein JJ, Hayden MR. Clee SM, et al. Among authors: loubser o. Clin Genet. 2001 Oct;60(4):293-300. doi: 10.1034/j.1399-0004.2001.600407.x. Clin Genet. 2001. PMID: 11683775

3

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

Zwarts KY, Clee SM, Zwinderman AH, Engert JC, Singaraja R, Loubser O, James E, Roomp K, Hudson TJ, Jukema JW, Kastelein JJ, Hayden MR. Zwarts KY, et al. Among authors: loubser o. Clin Genet. 2002 Feb;61(2):115-25. doi: 10.1034/j.1399-0004.2002.610206.x. Clin Genet. 2002. PMID: 11940086

4

Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease.

Wellington CL, Ellerby LM, Gutekunst CA, Rogers D, Warby S, Graham RK, Loubser O, van Raamsdonk J, Singaraja R, Yang YZ, Gafni J, Bredesen D, Hersch SM, Leavitt BR, Roy S, Nicholson DW, Hayden MR. Wellington CL, et al. Among authors: loubser o. J Neurosci. 2002 Sep 15;22(18):7862-72. doi: 10.1523/JNEUROSCI.22-18-07862.2002. J Neurosci. 2002. PMID: 12223539 Free PMC article.

5

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: loubser o. Clin Genet. 1997 Jun;51(6):394-8. doi: 10.1111/j.1399-0004.1997.tb02497.x. Clin Genet. 1997. PMID: 9237502

6

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. Among authors: loubser o. Hum Genet. 1997 Jul;100(1):101-3. doi: 10.1007/s004390050473. Hum Genet. 1997. PMID: 9225977

7

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.

Kotze MJ, Peeters AV, Loubser O, Theart L, du Plessis L, Hayes VM, de Jong G, de Villiers JN, Lombard CJ, Hansen PS, Raal FJ. Kotze MJ, et al. Among authors: loubser o. Clin Genet. 1998 Jul;54(1):74-8. doi: 10.1111/j.1399-0004.1998.tb03698.x. Clin Genet. 1998. PMID: 9727745

8

Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

Theart L, Kotze MJ, Langenhoven E, Loubser O, Peeters AV, Lintott CJ, Scott RS. Theart L, et al. Among authors: loubser o. J Med Genet. 1995 May;32(5):379-82. doi: 10.1136/jmg.32.5.379. J Med Genet. 1995. PMID: 7616546 Free PMC article.

9

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. Clin Genet. 1999 May;55(5):340-5. doi: 10.1034/j.1399-0004.1999.550507.x. Clin Genet. 1999. PMID: 10422804

10

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

Kotze MJ, Langenhoven E, Theart L, Loubser O, Micklem A, Oosthuizen CJ. Kotze MJ, et al. Among authors: loubser o. S Afr Med J. 1995 May;85(5):357-61. S Afr Med J. 1995. PMID: 7638684

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