Rubinsztein DC - Search Results

1

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.

Hoogendijk CF, Scholtz CL, Pimstone SM, Ehrenborg E, Kastelein JJ, Defesche JC, Thiart R, du Plessis L, de Villiers JN, Zaahl MG, Delport R, Rubinsztein DC, Raffel LJ, Grim CE, Mediene-Benchekor S, Amouyel P, Brousseau T, Steyn K, Lombard CJ, Hayden MR, Kotze MJ. Hoogendijk CF, et al. Among authors: rubinsztein dc. Mol Cell Probes. 2003 Aug;17(4):175-81. doi: 10.1016/s0890-8508(03)00050-1. Mol Cell Probes. 2003. PMID: 12944120

2

Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians.

Rubinsztein DC, Coetzee GA, van der Westhuyzen DR, Langenhoven E, Kotze MJ. Rubinsztein DC, et al. S Afr Med J. 1995 May;85(5):355-7. S Afr Med J. 1995. PMID: 7638683

3

Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.

Rubinsztein DC, Jialal I, Leitersdorf E, Coetzee GA, van der Westhuyzen DR. Rubinsztein DC, et al. Biochim Biophys Acta. 1993 Aug 4;1182(1):75-82. doi: 10.1016/0925-4439(93)90156-u. Biochim Biophys Acta. 1993. PMID: 8347689

4

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: rubinsztein dc. Atherosclerosis. 1996 Aug 23;125(1):111-9. doi: 10.1016/0021-9150(96)05871-6. Atherosclerosis. 1996. PMID: 8831933

5

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, Rubinsztein DC. Leggo J, et al. Among authors: rubinsztein dc. J Med Genet. 1997 Dec;34(12):982-5. doi: 10.1136/jmg.34.12.982. J Med Genet. 1997. PMID: 9429138 Free PMC article.

6

A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi.

Peeters AV, Kotze MJ, Scholtz CL, De Waal LF, Rubinsztein DC, Coetzee GA, Zuliani G, Streiff R, Liu J, van der Westhuyzen DR. Peeters AV, et al. Among authors: rubinsztein dc. J Lipid Res. 1998 May;39(5):1021-4. J Lipid Res. 1998. PMID: 9610768 Free article.

7

Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.

Taylor A, Ezquerra M, Bagri G, Yip A, Goumidi L, Cottel D, Easton D, Evans JG, Xuereb J, Cairns NJ, Amouyel P, Chartier-Harlin MC, Brayne C, Rubinsztein DC. Taylor A, et al. Among authors: rubinsztein dc. Am J Med Genet. 2001 Dec 8;105(8):761-4. doi: 10.1002/ajmg.10044. Am J Med Genet. 2001. PMID: 11803527

8

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. J Lipid Res. 1992 Nov;33(11):1647-55. J Lipid Res. 1992. PMID: 1464748 Free article.

9

Network analysis of human Y microsatellite haplotypes.

Cooper G, Amos W, Hoffman D, Rubinsztein DC. Cooper G, et al. Among authors: rubinsztein dc. Hum Mol Genet. 1996 Nov;5(11):1759-66. doi: 10.1093/hmg/5.11.1759. Hum Mol Genet. 1996. PMID: 8923004

10

Statin therapy in a kindred with both apolipoprotein B and low density lipoprotein receptor gene defects.

Raal FJ, Pilcher G, Rubinsztein DC, Lingenhel A, Utermann G. Raal FJ, et al. Among authors: rubinsztein dc. Atherosclerosis. 1997 Feb 28;129(1):97-102. doi: 10.1016/s0021-9150(96)06007-8. Atherosclerosis. 1997. PMID: 9069523

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