Humphries SE - Search Results

1

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.

2

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.

3

Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.

Gudnason V, Day IN, Humphries SE. Gudnason V, et al. Among authors: humphries se. Arterioscler Thromb. 1994 Nov;14(11):1717-22. doi: 10.1161/01.atv.14.11.1717. Arterioscler Thromb. 1994. PMID: 7947594

4

Use of the single strand conformation polymorphism method for rapid screening for mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia: effect on plasma lipid levels of different classes of mutations.

Gudnason V, Day IN, Humphries SE. Gudnason V, et al. Among authors: humphries se. Z Gastroenterol. 1996 Jun;34 Suppl 3:6-8. Z Gastroenterol. 1996. PMID: 8767444

5

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

Day IN, Whittall RA, O'Dell SD, Haddad L, Bolla MK, Gudnason V, Humphries SE. Day IN, et al. Among authors: humphries se. Hum Mutat. 1997;10(2):116-27. doi: 10.1002/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.0.CO;2-I. Hum Mutat. 1997. PMID: 9259195

6

Development of a microsatellite-based approach to co-segregation analysis of familial hypercholesterolaemic kindreds.

Haddad L, Day LB, Attwood J, Povey S, Humphries SE, Day IN. Haddad L, et al. Among authors: humphries se. Ann Hum Genet. 1997 Nov;61(Pt 6):497-506. doi: 10.1046/j.1469-1809.1997.6160497.x. Ann Hum Genet. 1997. PMID: 9543550

7

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

Wilson DJ, Gahan M, Haddad L, Heath K, Whittall RA, Williams RR, Humphries SE, Day IN. Wilson DJ, et al. Among authors: humphries se. Am J Cardiol. 1998 Jun 15;81(12):1509-11. doi: 10.1016/s0002-9149(98)00215-x. Am J Cardiol. 1998. PMID: 9645910

8

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.

Lee WK, Haddad L, Macleod MJ, Dorrance AM, Wilson DJ, Gaffney D, Dominiczak MH, Packard CJ, Day IN, Humphries SE, Dominiczak AF. Lee WK, et al. Among authors: humphries se. J Med Genet. 1998 Jul;35(7):573-8. doi: 10.1136/jmg.35.7.573. J Med Genet. 1998. PMID: 9678702 Free PMC article.

9

Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.

Haddad L, Day IN, Hunt S, Williams RR, Humphries SE, Hopkins PN. Haddad L, et al. Among authors: humphries se. J Lipid Res. 1999 Jun;40(6):1113-22. J Lipid Res. 1999. PMID: 10357843 Free article.

10

Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene.

Heath KE, Day IN, Humphries SE. Heath KE, et al. Among authors: humphries se. J Med Genet. 2000 Apr;37(4):272-80. doi: 10.1136/jmg.37.4.272. J Med Genet. 2000. PMID: 10745045 Free PMC article.

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