Young I - Search Results

1

Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.

Ward AJ, O'Kane M, Young I, Nicholls DP, Nevin NC, Graham CA. Ward AJ, et al. Among authors: young i. Hum Mutat. 1995;6(3):254-6. doi: 10.1002/humu.1380060311. Hum Mutat. 1995. PMID: 8535447 No abstract available.

2

Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.

McClean E, Graham CA, Ward AJ, Young IS, Martin S, Nicholls DP. McClean E, et al. Among authors: young is. Br J Biomed Sci. 1999;56(4):258-62. Br J Biomed Sci. 1999. PMID: 10795369

3

Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.

Graham CA, McIlhatton BP, Kirk CW, Beattie ED, Lyttle K, Hart P, Neely RD, Young IS, Nicholls DP. Graham CA, et al. Atherosclerosis. 2005 Oct;182(2):331-40. doi: 10.1016/j.atherosclerosis.2005.02.016. Atherosclerosis. 2005. PMID: 16159606

4

Genetic screening of the LPL gene in hypertriglyceridaemic patients.

Wright WT, Young IS, Nicholls DP, Graham CA. Wright WT, et al. Atherosclerosis. 2008 Jul;199(1):187-92. doi: 10.1016/j.atherosclerosis.2007.10.029. Epub 2008 Feb 20. Atherosclerosis. 2008. PMID: 18068174

5

A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes.

Ward AJ, O'Kane M, Nicholls DP, Young IS, Nevin NC, Graham CA. Ward AJ, et al. Among authors: young is. Atherosclerosis. 1996 Feb;120(1-2):83-91. doi: 10.1016/0021-9150(95)05685-8. Atherosclerosis. 1996. PMID: 8645375

6

Genotype/phenotype correlations in familial hypercholesterolaemia.

Nicholls P, Young IS, Graham CA. Nicholls P, et al. Among authors: young is. Curr Opin Lipidol. 1998 Aug;9(4):313-7. doi: 10.1097/00041433-199808000-00005. Curr Opin Lipidol. 1998. PMID: 9739486 Review.

7

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia.

Graham CA, McClean E, Ward AJ, Beattie ED, Martin S, O'Kane M, Young IS, Nicholls DP. Graham CA, et al. Among authors: young is. Atherosclerosis. 1999 Dec;147(2):309-16. doi: 10.1016/s0021-9150(99)00201-4. Atherosclerosis. 1999. PMID: 10559517

8

Genetics of the lipoprotein lipase gene and hypertriglyceridaemia.

McDonnell MG, Young IS, Nicholls DP, Archbold GP, Graham CA. McDonnell MG, et al. Among authors: young is. Br J Biomed Sci. 2003;60(2):84-8. doi: 10.1080/09674845.2003.11783679. Br J Biomed Sci. 2003. PMID: 12866915

9

Diagnosis of heterozygous familial hypercholesterolaemia in children.

Nicholls DP, Cather M, Byrne C, Graham CA, Young IS. Nicholls DP, et al. Among authors: young is. Int J Clin Pract. 2008 Jul;62(7):990-4. doi: 10.1111/j.1742-1241.2008.01793.x. Epub 2008 May 19. Int J Clin Pract. 2008. PMID: 18492057

10

Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

Wright WT, Heggarty SV, Young IS, Nicholls DP, Whittall R, Humphries SE, Graham CA. Wright WT, et al. Among authors: young is. Clin Genet. 2008 Nov;74(5):463-8. doi: 10.1111/j.1399-0004.2008.01071.x. Epub 2008 Aug 12. Clin Genet. 2008. PMID: 18700895

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