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Results 21-30 of 35 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTarpey, P.; Parnau, J.; Blow, M.; Woffendin, H.; Bignell, G.; Cox, C.; Cox, J.; Davies, H.; Edkins, S.; Holden, S.; Korny, A.; Mallya, U.; Moon, J.; O'Meara, S.; Parker, A.; Stephens, P.; Stevens, C.; Teague, J.; Donnelly, A.; Mangelsdorf, M.; et al.
2002ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
2008Epilepsy and mental retardation limited to females: an under-recognized disorderScheffer, I.; Turner, S.; Dibbens, L.; Bayly, M.; Friend, K.; Hodgson, B.; Burrows, L.; Shaw, M.; Wei, C.; Ullmann, R.; Ropers, H.; Szepetowski, P.; Haan, E.; Mazarib, A.; Afawi, Z.; Neufeld, M.; Andrews, P.; Wallace, G.; Kivity, S.; Lev, D.; et al.
2007The spectrum of SCNIA-related infantile epileptic encephalopathiesHarkin, L.; McMahon, J.; Iona, X.; Dibbens, L.; Pelekanos, J.; Zuberi, S.; Sadleir, L.; Andermann, E.; Gill, D.; Farrell, K.; Connolly, M.; Stanley, T.; Harbord, M.; Andermann, F.; Wang, J.; Batish, S.; Jones, J.; Seltzer, W.; Gardner, A.; Sutherland, G.; et al.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2004Phase 2 evaluation of parainfluenza type 3 cold passage mutant 45 live attenuated vaccine in healthy children 6-18 months oldBelshe, R.; Newman, F.; Tsai, T.; Karron, R.; Reisinger, K.; Roberton, D.; Marshall, H.; Schwartz, R.; King, J.; Henderson, F.; Rodriguez, W.; Severs, J.; Wright, P.; Keyserling, H.; Weinberg, G.; Bromberg, K.; Loh, R.; Sly, P.; McIntyre, P.; Ziegler, J.; et al.
2004Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear proteinSarafidou, T.; Kahl, C.; Martinez-Garay, I.; Mangelsdorf, M.; Gesk, S.; Baker, E.; Kokkinaki, M.; Talley, P.; Maltby, E.; French, L.; Harder, L.; Hinzmann, B.; Nobile, C.; Richkind, K.; Finnis, M.; Deloukas, P.; Sutherland, G.; Kutsche, K.; Moschonas, N.; Siebert, R.; et al.
2004Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationTeber, O.; Gillessen-Kaesbach, G.; Fischer, S.; Bohringer, S.; Albrecht, B.; Albert, A.; Arslan-Kirchner, M.; Haan, E.; Hagedorn-Greiwe, M.; Hammans, C.; Henn, W.; Hinkel, G.; Konig, R.; Kunstmann, E.; Kunze, J.; Neumann, L.; Prott, E.; Rauch, A.; Rott, H.; Seidel, H.; et al.
2003Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationKalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al.