Humphries SE - Search Results

1

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

2

Dried template DNA, dried PCR oligonucleotides and mailing in 96-well plates: LDL receptor gene mutation screening.

Day IN, Whittall R, Gudnason V, Humphries SE. Day IN, et al. Among authors: humphries se. Biotechniques. 1995 Jun;18(6):981-4. Biotechniques. 1995. PMID: 7546722 No abstract available.

3

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.

4

Electrophoresis for genotyping: temporal thermal gradient gel electrophoresis for profiling of oligonucleotide dissociation.

Day IN, O'Dell SD, Cash ID, Humphries SE, Weavind GP. Day IN, et al. Among authors: humphries se. Nucleic Acids Res. 1995 Jul 11;23(13):2404-12. doi: 10.1093/nar/23.13.2404. Nucleic Acids Res. 1995. PMID: 7630718 Free PMC article.

5

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

6

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

Gudnason V, King-Underwood L, Seed M, Sun XM, Soutar AK, Humphries SE. Gudnason V, et al. Among authors: humphries se. Arterioscler Thromb. 1993 Jan;13(1):56-63. doi: 10.1161/01.atv.13.1.56. Arterioscler Thromb. 1993. PMID: 8093663

7

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

8

PCR induction of a TaqI restriction site at any CpG dinucleotide using two mismatched primers (CpG-PCR).

O'Dell SD, Humphries SE, Day IN. O'Dell SD, et al. Among authors: humphries se. Genome Res. 1996 Jun;6(6):558-68. doi: 10.1101/gr.6.6.558. Genome Res. 1996. PMID: 8828045 Free 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

849 results

Search Page

Filters