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Items: 1 to 50 of 204

1.

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP.

Am J Hum Genet. 2012 Feb 10;90(2):340-6. doi: 10.1016/j.ajhg.2011.12.008. Epub 2012 Jan 19.

2.

Atypical CTSK transcripts and ARNT transcription read-through into CTSK.

Giraudeau FS, Walhin JP, Murdock PR, Spurr NK, Gray IC.

Comp Funct Genomics. 2005;6(5-6):268-76. doi: 10.1002/cfg.483.

3.

Three novel pigmentation mutants generated by genome-wide random ENU mutagenesis in the mouse.

Tsipouri V, Curtin JA, Nolan PM, Vizor L, Parsons CA, Clapham CM, Latham ID, Rooke LJ, Martin JE, Peters J, Hunter AJ, Rogers D, Rastan S, Brown SD, Fisher EM, Spurr NK, Gray IC.

Comp Funct Genomics. 2004;5(2):123-7. doi: 10.1002/cfg.382.

4.

Pharmacogenetic studies of epilepsy drugs: are we there yet?

Spurr NK.

Trends Genet. 2006 May;22(5):250-2. Epub 2006 Mar 24. Review.

PMID:
16564110
5.

Guidelines for conducting and reporting whole genome/large-scale association studies.

Ehm MG, Nelson MR, Spurr NK.

Hum Mol Genet. 2005 Sep 1;14(17):2485-8. Epub 2005 Jul 21. No abstract available.

PMID:
16037068
6.

A single-nucleotide polymorphism tagging set for human drug metabolism and transport.

Ahmadi KR, Weale ME, Xue ZY, Soranzo N, Yarnall DP, Briley JD, Maruyama Y, Kobayashi M, Wood NW, Spurr NK, Burns DK, Roses AD, Saunders AM, Goldstein DB.

Nat Genet. 2005 Jan;37(1):84-9. Epub 2004 Dec 19.

PMID:
15608640
7.

Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland.

Giraudeau FS, McGinnis RE, Gray IC, O'Brien EJ, Doncaster KE, Spurr NK, Ralston SH, Reid DM, Wood J.

J Bone Miner Res. 2004 Jan;19(1):31-41.

8.

A Gilbert's syndrome UGT1A1 variant confers susceptibility to tranilast-induced hyperbilirubinemia.

Danoff TM, Campbell DA, McCarthy LC, Lewis KF, Repasch MH, Saunders AM, Spurr NK, Purvis IJ, Roses AD, Xu CF.

Pharmacogenomics J. 2004;4(1):49-53.

PMID:
14647407
9.

Genetics of calcium-sensing--regulation of calcium levels in the body.

Spurr NK.

Curr Opin Pharmacol. 2003 Jun;3(3):291-4. Review.

PMID:
12810195
10.

Multiplexed SNP genotyping using the Qbead system: a quantum dot-encoded microsphere-based assay.

Xu H, Sha MY, Wong EY, Uphoff J, Xu Y, Treadway JA, Truong A, O'Brien E, Asquith S, Stubbins M, Spurr NK, Lai EH, Mahoney W.

Nucleic Acids Res. 2003 Apr 15;31(8):e43.

11.

A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse.

Isaacs AM, Oliver PL, Jones EL, Jeans A, Potter A, Hovik BH, Nolan PM, Vizor L, Glenister P, Simon AK, Gray IC, Spurr NK, Brown SD, Hunter AJ, Davies KE.

J Neurosci. 2003 Mar 1;23(5):1631-7.

12.

Val64Ile polymorphism in the C-C chemokine receptor 2 is associated with reduced coronary artery calcification.

Valdes AM, Wolfe ML, O'Brien EJ, Spurr NK, Gefter W, Rut A, Groot PH, Rader DJ.

Arterioscler Thromb Vasc Biol. 2002 Nov 1;22(11):1924-8.

PMID:
12426226
13.

Molecular genetics of calcium sensing in bone cells.

Purroy J, Spurr NK.

Hum Mol Genet. 2002 Oct 1;11(20):2377-84. Review.

PMID:
12351573
14.

Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotland.

McGinnis RE, Fox H, Yates P, Cameron LA, Barnes MR, Gray IC, Spurr NK, Hurko O, St Clair D.

Nat Genet. 2001 Jun;28(2):128-9.

PMID:
11381258
15.

Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues.

Fear MW, Kelsell DP, Spurr NK, Barnes MR.

Biochem Biophys Res Commun. 2000 Nov 30;278(3):814-20.

PMID:
11095990
16.

Single nucleotide polymorphisms as tools in human genetics.

Gray IC, Campbell DA, Spurr NK.

Hum Mol Genet. 2000 Oct;9(16):2403-8. Review.

PMID:
11005795
17.

Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer.

Hanby AM, Kelsell DP, Potts HW, Gillett CE, Bishop DT, Spurr NK, Barnes DM.

Int J Cancer. 2000 Oct 15;88(2):204-8.

18.

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy.

Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP, Latham ID, Chase JM, Fisher EM, Bouzyk MM, Potter A, Masih M, Walsh FS, Sims MA, Doncaster KE, Parsons CA, Martin J, Brown SD, Rastan S, Spurr NK, Gray IC.

Hum Mol Genet. 2000 Jul 22;9(12):1865-71.

PMID:
10915775
19.

Mapping and characterization of the eukaryotic early pregnancy factor/chaperonin 10 gene family.

Summers KM, Fletcher BH, Macaranas DD, Somodevilla-Torres MJ, Murphy RM, Osborne MJ, Spurr NK, Cassady AI, Cavanagh AC.

Somat Cell Mol Genet. 1998 Nov;24(6):315-26.

PMID:
10763410
20.

Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25.

Risk JM, Ruhrberg C, Hennies H, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM, Bishop DT, Spurr NK, Stevens HP, Leigh IM, Reis A, Kelsell DP, Field JK.

Genomics. 1999 Jul 15;59(2):234-42.

PMID:
10409435
21.

Mutation and expression analysis of the putative prostate tumour-suppressor gene PTEN.

Gray IC, Stewart LM, Phillips SM, Hamilton JA, Gray NE, Watson GJ, Spurr NK, Snary D.

Br J Cancer. 1998 Nov;78(10):1296-300.

22.

A refined physical and EST map spanning 7.4 Mb of 10q24, a region involved in neurological disorders.

Nobile C, Manca A, Pisano M, Angius A, Gray IC, Spurr NK.

Mamm Genome. 1998 Oct;9(10):835-7. No abstract available.

PMID:
9745040
23.

Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome.

Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, Ogata T, Hoo JJ, Pinsky L, Gimelli G, Pasztor L, Goodfellow PN.

Am J Hum Genet. 1998 Sep;63(3):905-8. No abstract available.

24.

Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.

Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, van de Vijver MJ, Farid LM, Venter D, Antoniou A, Storfer-Isser A, Smyth E, Steel CM, Haites N, Scott RJ, Goldgar D, Neuhausen S, Daly PA, Ormiston W, McManus R, Scherneck S, Ponder BA, Ford D, Peto J, Stoppa-Lyonnet D, Bignon YJ, Struewing JP, Spurr NK, Bishop DT, Klijn JG, Devilee P, Cornelisse CJ, Lasset C, Lenoir G, Barkardottir RB, Egilsson V, Hamann U, Chang-Claude J, Sobol H, Weber B, Stratton MR, Easton DF.

J Natl Cancer Inst. 1998 Aug 5;90(15):1138-45.

PMID:
9701363
25.

Rearrangement of the long arm of chromosome 10 in the prostate adenocarcinoma cell line LNCaP.

Ford S, Gray IC, Spurr NK.

Cancer Genet Cytogenet. 1998 Apr 1;102(1):6-11.

PMID:
9530332
26.

A first-generation whole genome-radiation hybrid map spanning the mouse genome.

McCarthy LC, Terrett J, Davis ME, Knights CJ, Smith AL, Critcher R, Schmitt K, Hudson J, Spurr NK, Goodfellow PN.

Genome Res. 1997 Dec;7(12):1153-61.

27.

Integrated radiation hybrid and yeast artificial chromosome map of chromosome 9p.

Bouzyk M, Bryant SP, Evans C, Guioli S, Ford S, Schmidt K, Goodfellow PN, Povey S, Rebello M, Rousseaux S, Spurr NK.

Eur J Hum Genet. 1997 Sep-Oct;5(5):299-307.

PMID:
9412787
28.

Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes.

Manca A, Volpi EV, Laficara F, Muresu R, Gray IC, Spurr NK, Nobile C.

Genomics. 1997 Oct 15;45(2):407-11.

PMID:
9344667
29.

Germline mutations of the CDKN2 gene in UK melanoma families.

Harland M, Meloni R, Gruis N, Pinney E, Brookes S, Spurr NK, Frischauf AM, Bataille V, Peters G, Cuzick J, Selby P, Bishop DT, Bishop JN.

Hum Mol Genet. 1997 Nov;6(12):2061-7.

PMID:
9328469
30.

The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively.

Cowley CM, Simrak D, Spurr NK, Arnemann J, Buxton RS.

Hum Genet. 1997 Sep;100(3-4):486-8. No abstract available.

PMID:
9272178
31.

An integrated physical and genetic map spanning chromosome band 10q24.

Gray IC, Fallowfield J, Ford S, Nobile C, Volpi EV, Spurr NK.

Genomics. 1997 Jul 1;43(1):85-8.

PMID:
9226376
32.

Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

Povey S, Attwood J, Chadwick B, Frezal J, Haines JL, Knowles M, Kwiatkowski DJ, Olopade OI, Slaugenhaupt S, Spurr NK, Smith M, Steel K, White JA, Pericak-Vance MA.

Ann Hum Genet. 1997 May;61(Pt 3):183-206.

33.

Human 5-HT5A receptor gene: systematic screening for DNA sequence variation and linkage mapping on chromosome 7q34-q36 using a polymorphism in the 5' untranslated region.

Shimron-Abarbanell D, Erdmann J, Vogt IR, Bryant SP, Spurr NK, Knapp M, Propping P, Nöthen MM.

Biochem Biophys Res Commun. 1997 Apr 7;233(1):6-9.

PMID:
9144385
34.

Mapping of the human adenosine A2a receptor gene: relationship to potential schizophrenia loci on chromosome 22q and exclusion from the CATCH 22 region.

Deckert J, Nöthen MM, Bryant SP, Schuffenhauer S, Schofield PR, Spurr NK, Propping P.

Hum Genet. 1997 Mar;99(3):326-8.

PMID:
9050917
35.

Chromosomal assignment of 311 sequences transcribed in human adult testis.

Jones MH, Zhang Y, Tirosvoutis KN, Davey PM, Webster AR, Walsh D, Spurr NK, Affara NA.

Genomics. 1997 Feb 15;40(1):155-67.

PMID:
9070934
36.

Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families.

Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S, Hodgson S, Kelsell DP, Spurr NK, Bishop DT, Solomon E.

Genes Chromosomes Cancer. 1997 Feb;18(2):102-10.

PMID:
9115959
37.

Germline BRCA2 mutations in men with breast cancer.

Mavraki E, Gray IC, Bishop DT, Spurr NK.

Br J Cancer. 1997;76(11):1428-31.

38.

Gene mapping using somatic cell hybrids.

Kelsell DP, Spurr NK.

Methods Mol Biol. 1997;68:45-52. No abstract available.

PMID:
9055249
39.

European Gene Mapping Project (EUROGEM): breakpoint panels for human chromosomes based on the CEPH reference families. Centre d'Etude du Polymorphisme Humain.

Cox SA, Attwood J, Bryant SP, Bains R, Povey S, Rebello M, Kapsetaki M, Moschonas NK, Grzeschik KH, Otto M, Dixon M, Sudworth HE, Kooy RF, Wright A, Teague P, Terrenato L, Vergnaud G, Monfouilloux S, Weissenbach J, Alibert O, Dib C, Fauré S, Bakker E, Pearson NM, Spurr NK.

Ann Hum Genet. 1996 Nov;60(6):447-86.

PMID:
9024576
40.

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.

Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH, Lane EB.

Nat Genet. 1996 Aug;13(4):450-7.

PMID:
8696340
41.

The human complement C8G gene, a member of the lipocalin gene family: polymorphisms and mapping to chromosome 9q34.3.

Dewald G, Cichon S, Bryant SP, Hemmer S, Nöthen MM, Spurr NK.

Ann Hum Genet. 1996 Jul;60(4):281-91.

PMID:
8865989
42.

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).

Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J, Bishop DT, Spurr NK, Field JK.

Hum Mol Genet. 1996 Jun;5(6):857-60.

PMID:
8776604
43.

Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas.

Kelsell DP, Spurr NK, Barnes DM, Gusterson B, Bishop DT.

Lancet. 1996 Jun 1;347(9014):1554-5. No abstract available.

PMID:
8684125
44.

Construction of a radiation hybrid map of chromosome 9p.

Bouzyk M, Bryant SP, Schmitt K, Goodfellow PN, Ekong R, Spurr NK.

Genomics. 1996 Jun 1;34(2):187-92.

PMID:
8661047
45.

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS, Leigh IM.

Arch Dermatol. 1996 Jun;132(6):640-51. Review.

PMID:
8651714
46.

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RP, Spurr NK, Leigh IM.

J Invest Dermatol. 1996 Apr;106(4):795-7.

47.

An integrated genetic map of Chromosome 6.

Cooke IE, Cox SA, Shelling AN, Le Meuth VG, Spurr NK, Ganesan TS.

Mamm Genome. 1996 Feb;7(2):157-9. No abstract available.

PMID:
8835537
48.

Mapmakers--progress in the human genome project.

Spurr NK.

Biochem Soc Trans. 1996 Feb;24(1):285-9. No abstract available.

PMID:
8674688
49.

A novel dystrophin/utrophin-associated protein is an enzymatically inactive member of the phosphoglucomutase superfamily.

Moiseeva EP, Belkin AM, Spurr NK, Koteliansky VE, Critchley DR.

Eur J Biochem. 1996 Jan 15;235(1-2):103-13.

50.

Report of the first international workshop on human chromosome 10 mapping 1995.

Moschonas NK, Spurr NK, Mao J.

Cytogenet Cell Genet. 1996;72(2-3):100-12. No abstract available.

PMID:
8978759

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