Hegele RA - Search Results

1

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.

Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning AK, Jensen MK, Rimm EB, Wang J, Rodrigues A, Bamba V, Khetarpal SA, Wolfe ML, Derohannessian S, Li M, Reilly MP, Aberle J, Evans D, Hegele RA, Rader DJ. Edmondson AC, et al. Among authors: hegele ra. J Clin Invest. 2009 Apr;119(4):1042-50. doi: 10.1172/JCI37176. Epub 2009 Mar 16. J Clin Invest. 2009. PMID: 19287092 Free PMC article.

2

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.

Wang J, Hegele RA. Wang J, et al. Among authors: hegele ra. Hum Mutat. 2000 Mar;15(3):294-5. doi: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU14>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10679949

3

Single nucleotide polymorphisms of the very low density lipoprotein receptor (VLDLR) gene.

Near SE, Wang J, Hegele RA. Near SE, et al. Among authors: hegele ra. J Hum Genet. 2001;46(8):490-3. doi: 10.1007/s100380170051. J Hum Genet. 2001. PMID: 11501949

4

Lecithin:cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity.

Rosset J, Wang J, Wolfe BM, Dolphin PJ, Hegele RA. Rosset J, et al. Among authors: hegele ra. Clin Biochem. 2001 Jul;34(5):381-6. doi: 10.1016/s0009-9120(01)00231-4. Clin Biochem. 2001. PMID: 11522275

5

Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol.

Keyhan G, Rosset J, Wang J, Miller D, McManus R, Hegele RA. Keyhan G, et al. Among authors: hegele ra. Clin Biochem. 2002 Jul;35(5):341-6. doi: 10.1016/s0009-9120(02)00322-3. Clin Biochem. 2002. PMID: 12270762

6

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Wang J, Hegele RA. Wang J, et al. Among authors: hegele ra. Hum Genet. 2003 Apr;112(4):404-8. doi: 10.1007/s00439-003-0906-8. Epub 2003 Feb 6. Hum Genet. 2003. PMID: 12574942

7

Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.

Wen XY, Hegele RA, Wang J, Wang DY, Cheung J, Wilson M, Yahyapour M, Bai Y, Zhuang L, Skaug J, Young TK, Connelly PW, Koop BF, Tsui LC, Stewart AK. Wen XY, et al. Among authors: hegele ra. Hum Mol Genet. 2003 May 15;12(10):1131-43. doi: 10.1093/hmg/ddg124. Hum Mol Genet. 2003. PMID: 12719377

8

Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration.

Wang J, Huff AM, Spence JD, Hegele RA. Wang J, et al. Among authors: hegele ra. Clin Genet. 2004 Jun;65(6):483-6. doi: 10.1111/j.1399-0004.2004.00250.x. Clin Genet. 2004. PMID: 15151507

9

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.

Wang J, Ban MR, Hegele RA. Wang J, et al. Among authors: hegele ra. J Lipid Res. 2005 Feb;46(2):366-72. doi: 10.1194/jlr.D400030-JLR200. Epub 2004 Dec 1. J Lipid Res. 2005. PMID: 15576851 Free article.

10

Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe.

Wang J, Williams CM, Hegele RA. Wang J, et al. Among authors: hegele ra. Clin Genet. 2005 Feb;67(2):175-7. doi: 10.1111/j.1399-0004.2004.00388.x. Clin Genet. 2005. PMID: 15679830

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