author:"Edkins S." in Literature citations

1 - 25 of 33 results for author:"Edkins S." in Literature citations

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Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. CARDIoGRAM Consortium Bown M.J., Jones G.T., Harrison S.C., Wright B.J., Bumpstead S., Baas A.F., Gretarsdottir S., Badger S.A., Bradley D.T., Burnand K. et al. Am. J. Hum. Genet. 89:619-627(2011) · Mapped (8)
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Spondyloarthritis Research Consortium of Canada (SPARCC) Evans D.M., Spencer C.C., Pointon J.J., Su Z., Harvey D., Kochan G., Oppermann U., Opperman U., Dilthey A., Pirinen M. et al. Nat. Genet. 43:761-767(2011) · Mapped (2)
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. UK Parkinson's Disease Consortium Spencer C.C., Plagnol V., Strange A., Gardner M., Paisan-Ruiz C., Band G., Barker R.A., Bellenguez C., Bhatia K., Blackburn H. et al. Hum. Mol. Genet. 20:345-353(2011) · Mapped (26)
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2 Strange A., Capon F., Spencer C.C., Knight J., Weale M.E., Allen M.H., Barton A., Band G., Bellenguez C., Bergboer J.G. et al. Nat. Genet. 42:985-990(2010) · Mapped (296)
GLO1-A novel amplified gene in human cancer. Santarius T., Bignell G.R., Greenman C.D., Widaa S., Chen L., Mahoney C.L., Butler A., Edkins S., Waris S., Thornalley P.J. et al. Genes Chromosomes Cancer 49:711-725(2010) · Mapped (1)
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Wellcome Trust Case Control Consortium Craddock N., Hurles M.E., Cardin N., Pearson R.D., Plagnol V., Robson S., Vukcevic D., Barnes C., Conrad D.F., Giannoulatou E. et al. Nature 464:713-720(2010) · Mapped (3)
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Dalgliesh G.L., Furge K., Greenman C., Chen L., Bignell G., Butler A., Davies H., Edkins S., Hardy C., Latimer C. et al. Nature 463:360-363(2010) · Mapped (20)
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. UK IBD Genetics Consortium Barrett J.C., Lee J.C., Lees C.W., Prescott N.J., Anderson C.A., Phillips A., Wesley E., Parnell K., Zhang H., Drummond H. et al. Nat. Genet. 41:1330-1334(2009) · Mapped (70)
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Rujirabanjerd S., Nelson J., Tarpey P.S., Hackett A., Edkins S., Raymond F.L., Schwartz C.E., Turner G., Iwase S., Shi Y. et al. Eur. J. Hum. Genet. 18:330-335(2010) · Mapped (3)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy C., O'Meara S., Latimer C., Dicks E., Menzies A. et al. Nat. Genet. 41:535-543(2009) · UniProtKB (5) · Mapped (1)
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. van Haaften G., Dalgliesh G.L., Davies H., Chen L., Bignell G., Greenman C., Edkins S., Hardy C., O'Meara S., Teague J. et al. Nat. Genet. 41:521-523(2009) · Mapped (17)
LKB1/KRAS mutant lung cancers constitute a genetic subset of NSCLC with increased sensitivity to MAPK and mTOR signalling inhibition. Mahoney C.L., Choudhury B., Davies H., Edkins S., Greenman C., Haaften G., Mironenko T., Santarius T., Stevens C., Stratton M.R. et al. Br. J. Cancer 100:370-375(2009) · Mapped (6)
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E., Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C. et al. Nat. Genet. 40:776-781(2008) · UniProtKB (1) · Mapped (2)
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Molinari F., Foulquier F., Tarpey P.S., Morelle W., Boissel S., Teague J., Edkins S., Futreal P.A., Stratton M.R., Turner G. et al. Am. J. Hum. Genet. 82:1150-1157(2008) · UniProtKB (2) · Mapped (9)
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Gilfillan G.D., Selmer K.K., Roxrud I., Smith R., Kyllerman M., Eiklid K., Kroken M., Mattingsdal M., Egeland T., Stenmark H. et al. Am. J. Hum. Genet. 82:1003-1010(2008) · UniProtKB (1) · Mapped (3)
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Tarpey P.S., Raymond F.L., Nguyen L.S., Rodriguez J., Hackett A., Vandeleur L., Smith R., Shoubridge C., Edkins S., Stevens C. et al. Nat. Genet. 39:1127-1133(2007) · UniProtKB (1) · Mapped (2)
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Field M., Tarpey P.S., Smith R., Edkins S., O'Meara S., Stevens C., Tofts C., Teague J., Butler A., Dicks E. et al. Am. J. Hum. Genet. 81:367-374(2007) · UniProtKB (1)
Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers. Maser R.S., Choudhury B., Campbell P.J., Feng B., Wong K.K., Protopopov A., O'Neil J., Gutierrez A., Ivanova E., Perna I. et al. Nature 447:966-971(2007) · Mapped (17)
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Raymond F.L., Tarpey P.S., Edkins S., Tofts C., O'Meara S., Teague J., Butler A., Stevens C., Barthorpe S., Buck G. et al. Am. J. Hum. Genet. 80:982-987(2007) · UniProtKB (1)
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Schwartz C.E., Tarpey P.S., Lubs H.A., Verloes A., May M.M., Risheg H., Friez M.J., Futreal P.A., Edkins S., Teague J. et al. J. Med. Genet. 44:472-477(2007) · UniProtKB (1) · Mapped (8)
Patterns of somatic mutation in human cancer genomes. Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C. et al. Nature 446:153-158(2007) · UniProtKB (453)
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Tarpey P., Pemberton T.J., Stockton D.W., Das P., Ninis V., Edkins S., Andrew Futreal P., Wooster R., Kamath S., Nayak R. et al. Am. J. Med. Genet. A 143:390-394(2007) · UniProtKB (1)
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Tarpey P.S., Raymond F.L., O'Meara S., Edkins S., Teague J., Butler A., Dicks E., Stevens C., Tofts C., Avis T. et al. Am. J. Hum. Genet. 80:345-352(2007) · UniProtKB (1) · Mapped (1)
Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Tarpey P.S., Stevens C., Teague J., Edkins S., O'Meara S., Avis T., Barthorpe S., Buck G., Butler A., Cole J. et al. Am. J. Hum. Genet. 79:1119-1124(2006) · UniProtKB (1)
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Field M., Tarpey P., Boyle J., Edkins S., Goodship J., Luo Y., Moon J., Teague J., Stratton M.R., Futreal P.A. et al. Clin. Genet. 70:509-515(2006) · UniProtKB (1) · Mapped (5)

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