Humphries SE - Search Results

1

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RD, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE. Taylor A, et al. Among authors: humphries se. Clin Genet. 2010 Jun;77(6):572-80. doi: 10.1111/j.1399-0004.2009.01356.x. Epub 2010 Mar 13. Clin Genet. 2010. PMID: 20236128

2

Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

Taylor A, Tabrah S, Wang D, Sozen M, Duxbury N, Whittall R, Humphries SE, Norbury G. Taylor A, et al. Among authors: humphries se. Clin Genet. 2007 Jun;71(6):561-8. doi: 10.1111/j.1399-0004.2007.00807.x. Clin Genet. 2007. PMID: 17539906

3

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: humphries se. 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

4

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.

Taylor A, Martin B, Wang D, Patel K, Humphries SE, Norbury G. Taylor A, et al. Among authors: humphries se. Clin Genet. 2009 Jul;76(1):69-75. doi: 10.1111/j.1399-0004.2009.01168.x. Epub 2009 Jun 16. Clin Genet. 2009. PMID: 19538517

5

Mutation screening in patients for familial hypercholesterolaemia (ADH).

Taylor A, Patel K, Tsedeke J, Humphries SE, Norbury G. Taylor A, et al. Among authors: humphries se. Clin Genet. 2010 Jan;77(1):97-9. doi: 10.1111/j.1399-0004.2009.01279.x. Epub 2009 Oct 14. Clin Genet. 2010. PMID: 19843101 No abstract available.

6

Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing.

Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, Neil HA, Humphries SE. Starr B, et al. Among authors: humphries se. Clin Chem Lab Med. 2008;46(6):791-803. doi: 10.1515/CCLM.2008.135. Clin Chem Lab Med. 2008. PMID: 18601600

7

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Futema M, Whittall RA, Kiley A, Steel LK, Cooper JA, Badmus E, Leigh SE, Karpe F, Neil HA; Simon Broome Register Group; Humphries SE. Futema M, et al. Among authors: humphries se. Atherosclerosis. 2013 Jul;229(1):161-8. doi: 10.1016/j.atherosclerosis.2013.04.011. Epub 2013 Apr 18. Atherosclerosis. 2013. PMID: 23669246 Free PMC article.

8

Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.

Whittall R, Gudnason V, Weavind GP, Day LB, Humphries SE, Day IN. Whittall R, et al. Among authors: humphries se. J Med Genet. 1995 Jul;32(7):509-15. doi: 10.1136/jmg.32.7.509. J Med Genet. 1995. PMID: 7562961 Free PMC article.

9

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

Day IN, Haddad L, O'Dell SD, Day LB, Whittall RA, Humphries SE. Day IN, et al. Among authors: humphries se. J Med Genet. 1997 Feb;34(2):111-6. doi: 10.1136/jmg.34.2.111. J Med Genet. 1997. PMID: 9039985 Free PMC article.

10

Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques.

Humphries SE, Gudnason V, Whittall R, Day IN. Humphries SE, et al. Clin Chem. 1997 Mar;43(3):427-35. Clin Chem. 1997. PMID: 9068585 Review.

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