Pimstone S - 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: pimstone s. Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905. Nat Genet. 1999. PMID: 10431236

2

Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia.

Pimstone SN, Gagné SE, Gagné C, Lupien PJ, Gaudet D, Williams RR, Kotze M, Reymer PW, Defesche JC, Kastelein JJ, et al. Pimstone SN, et al. Arterioscler Thromb Vasc Biol. 1995 Oct;15(10):1704-12. doi: 10.1161/01.atv.15.10.1704. Arterioscler Thromb Vasc Biol. 1995. PMID: 7583547

3

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers.

Pimstone SN, Clee SM, Gagné SE, Miao L, Zhang H, Stein EA, Hayden MR. Pimstone SN, et al. J Lipid Res. 1996 Aug;37(8):1675-84. J Lipid Res. 1996. PMID: 8864951 Free article.

4

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

Pimstone SN, Defesche JC, Clee SM, Bakker HD, Hayden MR, Kastelein JJ. Pimstone SN, et al. Arterioscler Thromb Vasc Biol. 1997 May;17(5):826-33. doi: 10.1161/01.atv.17.5.826. Arterioscler Thromb Vasc Biol. 1997. PMID: 9157944

5

Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene.

Ehrenborg E, Clee SM, Pimstone SN, Reymer PW, Benlian P, Hoogendijk CF, Davis HJ, Bissada N, Miao L, Gagné SE, Greenberg LJ, Henry R, Henderson H, Ordovas JM, Schaefer EJ, Kastelein JJ, Kotze MJ, Hayden MR. Ehrenborg E, et al. Among authors: pimstone sn. Arterioscler Thromb Vasc Biol. 1997 Nov;17(11):2672-8. doi: 10.1161/01.atv.17.11.2672. Arterioscler Thromb Vasc Biol. 1997. PMID: 9409241

6

Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele.

Abdel-Wareth LO, Pimstone SN, Lagarde JP, Raisonnier A, Benlian P, Pritchard H, Hayden MR, Frohlich JJ. Abdel-Wareth LO, et al. Among authors: pimstone sn. Atherosclerosis. 1997 Dec;135(2):181-5. doi: 10.1016/s0021-9150(97)00159-7. Atherosclerosis. 1997. PMID: 9430367

7

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.

Pimstone SN, Sun XM, du Souich C, Frohlich JJ, Hayden MR, Soutar AK. Pimstone SN, et al. Arterioscler Thromb Vasc Biol. 1998 Feb;18(2):309-15. doi: 10.1161/01.atv.18.2.309. Arterioscler Thromb Vasc Biol. 1998. PMID: 9484998

8

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.

Wittekoek ME, Pimstone SN, Reymer PW, Feuth L, Botma GJ, Defesche JC, Prins M, Hayden MR, Kastelein JJ. Wittekoek ME, et al. Among authors: pimstone sn. Circulation. 1998 Mar 3;97(8):729-35. doi: 10.1161/01.cir.97.8.729. Circulation. 1998. PMID: 9498535

9

A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study.

Gagné SE, Larson MG, Pimstone SN, Schaefer EJ, Kastelein JJ, Wilson PW, Ordovas JM, Hayden MR. Gagné SE, et al. Among authors: pimstone sn. Clin Genet. 1999 Jun;55(6):450-4. doi: 10.1034/j.1399-0004.1999.550609.x. Clin Genet. 1999. PMID: 10450862

10

Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.

Marcil M, Brooks-Wilson A, Clee SM, Roomp K, Zhang LH, Yu L, Collins JA, van Dam M, Molhuizen HO, Loubster O, Ouellette BF, Sensen CW, Fichter K, Mott S, Denis M, Boucher B, Pimstone S, Genest J Jr, Kastelein JJ, Hayden MR. Marcil M, et al. Among authors: pimstone s. Lancet. 1999 Oct 16;354(9187):1341-6. doi: 10.1016/s0140-6736(99)07026-9. Lancet. 1999. PMID: 10533863

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