14 results for author:"Partington M." in Literature citations
Results Customize
› Repeat search in UniProtKB (17)
| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Hackett A., Tarpey P.S., Licata A., Cox J., Whibley A., Boyle J., Rogers C., Grigg J., Partington M., Stevenson R.E. et al. Eur. J. Hum. Genet. 18:544-552(2010) · Mapped (2) |
| 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. |
| 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 (11) |
| 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) |
| 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) |
| A genome-wide screen identifies the evolutionarily conserved KEOPS complex as a telomere regulator. Downey M., Houlsworth R., Maringele L., Rollie A., Brehme M., Galicia S., Guillard S., Partington M., Zubko M.K., Krogan N.J. et al. |
| 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family. Lower K.M., Solders G., Bondeson M.L., Nelson J., Brun A., Crawford J., Malm G., Borjeson M., Turner G., Partington M. et al. Eur. J. Hum. Genet. 12:787-789(2004) · Mapped (5) |
| Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Tarpey P., Parnau J., Blow M., Woffendin H., Bignell G., Cox C., Cox J., Davies H., Edkins S., Holden S. et al. Am. J. Hum. Genet. 75:318-324(2004) · UniProtKB (1) · Mapped (3) |
| The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Turner G., Lower K.M., White S.M., Delatycki M., Lampe A.K., Wright M., Smith J.C., Kerr B., Schelley S., Hoyme H.E. et al. Clin. Genet. 65:226-232(2004) · Mapped (5) |
| Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Shoichet S.A., Hoffmann K., Menzel C., Trautmann U., Moser B., Hoeltzenbein M., Echenne B., Partington M., Van Bokhoven H., Moraine C. et al. Am. J. Hum. Genet. 73:1341-1354(2003) · UniProtKB (1) · Mapped (2) |
| Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Turner G., Partington M., Kerr B., Mangelsdorf M., Gecz J. Am. J. Med. Genet. 112:405-411(2002) · UniProtKB (1) |
| Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy. Stroemme P., Mangelsdorf M.E., Shaw M.A., Lower K.M., Lewis S.M.E., Bruyere H., Luetcherath V., Gedeon A.K., Wallace R.H., Scheffer I.E. et al. |
| PAK3 mutation in nonsyndromic X-linked mental retardation. Allen K.M., Gleeson J.G., Bagrodia S., Partington M.W., Macmillan J.C., Cerione R.A., Mulley J.C., Walsh C.A. Nat. Genet. 20:25-30(1998) · UniProtKB (1) |