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1.

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

Blaydon, Diana C; Etheridge, Sarah L; Risk, Janet M; Hennies, Hans-Christian; Gay, Laura J; Carroll, Rebecca; Plagnol, Vincent; McRonald, Fiona E; Stevens, Howard P; Spurr, Nigel K; Bishop, D Timothy; Ellis, Anthony; Jankowski, Janusz; Field, John K; Leigh, Irene M; South, Andrew P; Kelsell, David P.

Am J Hum Genet ; 90(2): 340-6, 2012 Feb 10.

Artículo en Inglés | MEDLINE | ID: mdl-22265016

2.

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

Ahmadi, Kourosh R; Weale, Mike E; Xue, Zhengyu Y; Soranzo, Nicole; Yarnall, David P; Briley, James D; Maruyama, Yuka; Kobayashi, Mikiro; Wood, Nicholas W; Spurr, Nigel K; Burns, Daniel K; Roses, Allen D; Saunders, Ann M; Goldstein, David B.

Nat Genet ; 37(1): 84-9, 2005 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-15608640

3.

Pharmacogenetic studies of epilepsy drugs: are we there yet?

Spurr, Nigel K.

Trends Genet ; 22(5): 250-2, 2006 May.

Artículo en Inglés | MEDLINE | ID: mdl-16564110

4.

Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse.

Curtin, John A; Quint, Elizabeth; Tsipouri, Vicky; Arkell, Ruth M; Cattanach, Bruce; Copp, Andrew J; Henderson, Deborah J; Spurr, Nigel; Stanier, Philip; Fisher, Elizabeth M; Nolan, Patrick M; Steel, Karen P; Brown, Steve D M; Gray, Ian C; Murdoch, Jennifer N.

Curr Biol ; 13(13): 1129-33, 2003 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-12842012

5.

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

Xu, Hongxia; Sha, Michael Y; Wong, Edith Y; Uphoff, Janet; Xu, Yanzhang; Treadway, Joseph A; Truong, Anh; O'Brien, Eamonn; Asquith, Steven; Stubbins, Michael; Spurr, Nigel K; Lai, Eric H; Mahoney, Walt.

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

Artículo en Inglés | MEDLINE | ID: mdl-12682378

6.

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

Isaacs, Adrian M; Oliver, Peter L; Jones, Emma L; Jeans, Alexander; Potter, Allyson; Hovik, Berit H; Nolan, Patrick M; Vizor, Lucie; Glenister, Peter; Simon, A Katharina; Gray, Ian C; Spurr, Nigel K; Brown, Steve D M; Hunter, A Jackie; Davies, Kay E.

J Neurosci ; 23(5): 1631-7, 2003 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-12629167

7.

A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene.

Toye, Ayo A; Moir, Lee; Hugill, Alison; Bentley, Liz; Quarterman, Julie; Mijat, Vesna; Hough, Tertius; Goldsworthy, Michelle; Haynes, Alison; Hunter, A Jacqueline; Browne, Mick; Spurr, Nigel; Cox, Roger D.

Diabetes ; 53(6): 1577-83, 2004 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-15161764

8.

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

Valdes, Ana M; Wolfe, Megan L; O'Brien, Eamonn J; Spurr, Nigel K; Gefter, Warren; Rut, Andrew; Groot, Pieter H E; Rader, Daniel J.

Arterioscler Thromb Vasc Biol ; 22(11): 1924-8, 2002 Nov 01.

Artículo en Inglés | MEDLINE | ID: mdl-12426226

9.

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

Spurr, Nigel K.

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

Artículo en Inglés | MEDLINE | ID: mdl-12810195

10.

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, Fabienne S; McGinnis, Ralph E; Gray, Ian C; O'Brien, Eamonn J; Doncaster, Kim E; Spurr, Nigel K; Ralston, Stuart H; Reid, David M; Wood, John.

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

Artículo en Inglés | MEDLINE | ID: mdl-14753734

11.

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

Giraudeau, Fabienne S; Walhin, Jean-Philippe; Murdock, Paul R; Spurr, Nigel K; Gray, Ian C.

Comp Funct Genomics ; 6(5-6): 268-76, 2005.

Artículo en Inglés | MEDLINE | ID: mdl-18629217

12.

Molecular genetics of calcium sensing in bone cells.

Purroy, Jesús; Spurr, Nigel K.

Hum Mol Genet ; 11(20): 2377-84, 2002 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-12351573

13.

The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon.

Rhodes, Charlotte R; Parkinson, Nicholas; Tsai, Hsun; Brooker, Debra; Mansell, Siobhan; Spurr, Nigel; Hunter, A Jackie; Steel, Karen P; Brown, Steve D M.

J Neurocytol ; 32(9): 1143-54, 2003 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-15044845

14.

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

Tsipouri, Vicky; Curtin, John A; Nolan, Pat M; Vizor, Lucie; Parsons, Claire A; Clapham, Colin M; Latham, Ian D; Rooke, Lesley J; Martin, Jo E; Peters, Jo; Hunter, A Jackie; Rogers, Derek; Rastan, Sohaila; Brown, Steve D M; Fisher, Elizabeth M C; Spurr, Nigel K; Gray, Ian C.

Comp Funct Genomics ; 5(2): 123-7, 2004.

Artículo en Inglés | MEDLINE | ID: mdl-18629060

15.

A gene-driven ENU-based approach to generating an allelic series in any gene.

Quwailid, Mohamed Mohideen; Hugill, Alison; Dear, Neil; Vizor, Lucie; Wells, Sara; Horner, Emma; Fuller, Shelly; Weedon, Jessica; McMath, Hamish; Woodman, Paul; Edwards, David; Campbell, David; Rodger, Susan; Carey, Joanne; Roberts, Ann; Glenister, Pete; Lalanne, Zuzanna; Parkinson, Nick; Coghill, Emma L; McKeone, Richard; Cox, Sam; Willan, John; Greenfield, Andy; Keays, David; Brady, Saffron; Spurr, Nigel; Gray, Ian; Hunter, Jackie; Brown, Steve D M; Cox, Roger D.

Mamm Genome ; 15(8): 585-91, 2004 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-15457338

16.

Novel phenotypes identified by plasma biochemical screening in the mouse.

Hough, Tertius A; Nolan, Patrick M; Tsipouri, Vicky; Toye, Ayo A; Gray, Ian C; Goldsworthy, Michelle; Moir, Lee; Cox, Roger D; Clements, Sian; Glenister, Peter H; Wood, John; Selley, Rachael L; Strivens, Mark A; Vizor, Lucie; McCormack, Stefan L; Peters, Josephine; Fisher, Elizabeth M; Spurr, Nigel; Rastan, Sohaila; Martin, Joanne E; Brown, Steve D M; Hunter, A Jacqueline.

Mamm Genome ; 13(10): 595-602, 2002 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-12420138

17.

Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders.

Rastan, Sohaila; Hough, Tertius; Kierman, Amy; Hardisty, Rachel; Erven, Alexandra; Gray, Ian C; Voeling, Stepanie; Isaacs, Adrian; Tsai, Hsun; Strivens, Mark; Washbourne, Rebecca; Thornton, Claire; Greenaway, Simon; Hewitt, Mazda; McCormick, Stefan; Selley, Rachael; Wells, Christine; Tymowska-Lalanne, Zuzanna; Roby, Phil; Mburu, Philomena; Rogers, Derek; Hagan, Jim; Reavill, Charlie; Davies, Kay; Glenister, Peter; Fisher, Elizabeth M C; Martin, Josephine; Vizor, Lucy; Bouzyk, Mark; Kelsell, David; Guenet, J L; Steel, Karen P; Sheardown, Steve; Spurr, Nigel; Gray, Ian; Peters, Jo; Nolan, Patrick M; Hunter, A Jacqueline; Brown, Steve D M.

Genetica ; 122(1): 47-9, 2004 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-15619960

18.

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

Ehm, Margaret G; Nelson, Matthew R; Spurr, Nigel K.

Hum Mol Genet ; 14(17): 2485-8, 2005 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-16037068

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