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54
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for author:"Stratton M.R."
in Literature Citations
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F., Smith R., Al Raisi Z., Turner S.J., Brown N.J., Desai T.D. et al. J. Med. Genet. 0:0-0(2009) · Mapped (2) |
| A genome-wide association study of testicular germ cell tumor. Rapley E.A., Turnbull C., Al Olama A.A., Dermitzakis E.T., Linger R., Huddart R.A., Renwick A., Hughes D., Hines S., Seal S. et al. Nat. Genet. 41:807-810(2009) · Mapped (1) |
| Arena syndrome is caused by a missense mutation in PLP1. Stevenson R.E., Tarpey P., May M.M., Stratton M.R., Schwartz C.E. Am. J. Med. Genet. A 149A:1081-1081(2009) · Mapped (7) |
| 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 (12) |
| Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. GENICA Consortium Nat. Genet. 41:585-590(2009) · Mapped (14) |
| 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) |
| Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Peat R.A., Gecz J., Fallon J.R., Tarpey P.S., Smith R., Futreal A., Stratton M.R., Lamande S.R., Yang N., North K.N. Neuromuscul. Disord. 18:606-609(2008) · Mapped (11) |
| 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. |
| 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 (8) |
| Feedback circuit among INK4 tumor suppressors constrains human glioblastoma development. Wiedemeyer R., Brennan C., Heffernan T.P., Xiao Y., Mahoney J., Protopopov A., Zheng H., Bignell G., Furnari F., Cavenee W.K. et al. Cancer Cell 13:355-364(2008) · Mapped (10) |
| 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 (9) |
| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Froyen G., Corbett M., Vandewalle J., Jarvela I., Lawrence O., Meldrum C., Bauters M., Govaerts K., Vandeleur L., Van Esch H. et al. Am. J. Hum. Genet. 82:432-443(2008) · UniProtKB (2) · Mapped (12) |
| 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. |
| 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) |
| Genome-wide association study identifies novel breast cancer susceptibility loci. Easton D.F., Pooley K.A., Dunning A.M., Pharoah P.D., Thompson D., Ballinger D.G., Struewing J.P., Morrison J., Field H., Luben R. et al. Nature 447:1087-1093(2007) · Mapped (25) |
| Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Pollock P.M., Gartside M.G., Dejeza L.C., Powell M.A., Mallon M.A., Davies H., Mohammadi M., Futreal P.A., Stratton M.R., Trent J.M. et al. Oncogene 26:7158-7162(2007) · Mapped (12) |
| 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 (14) |
| 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 (7) |
| 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 common coding variant in CASP8 is associated with breast cancer risk. The Kathleen Cunningham foundation consortium for research into familial breast cancer, Breast cancer association consortium |
| JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. Scott L.M., Tong W., Levine R.L., Scott M.A., Beer P.A., Stratton M.R., Futreal P.A., Erber W.N., McMullin M.F., Harrison C.N. et al. N. Engl. J. Med. 356:459-468(2007) · UniProtKB (1) · Mapped (5) |
| 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 (2) |
| PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Rahman N., Seal S., Thompson D., Kelly P., Renwick A., Elliott A., Reid S., Spanova K., Barfoot R., Chagtai T. et al. Nat. Genet. 39:165-167(2007) · Mapped (2) |
| 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) |
