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Results 101-110 of 139 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2007Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardationChen, W.; Jensen, L.; Gecz, J.; Fryns, J.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.; Kuss, A.
2000The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspectsGecz, J.
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.
2012Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsField, M.; Scheffer, I.; Gill, D.; Wilson, M.; Christie, L.; Shaw, M.; Gardner, A.; Glubb, G.; Hobson, L.; Corbett, M.; Friend, K.; Willis-Owen, S.; Gecz, J.
2010A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayHaan, E.; Gecz, J.
2010Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismLaumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.; Van Esch, H.; Kleefstra, T.; Briault, S.; Fryns, J.; Hamel, B.; Chelly, J.; Ropers, H.; Ronce, N.; Blesson, S.; Moraine, C.; Gecz, J.; Raynaud, M.
2009NHS-A isoform of the NHS gene is a novel interactor of ZO-1Sharma, S.; Koh, K.; Collin, C.; Dave, A.; McMellon, A.; Sugiyama, Y.; McAvoy, J.; Voss, A.; Gecz, J.; Craig, J.
2005Early onset seizures and Rett-like features associated with mutations in CDKL5Evans, J.; Archer, H.; Colley, J.; Ravn, K.; Nielsen, J.; Kerr, A.; Williams, E.; Christodoulou, J.; Gecz, J.; Jardine, P.; Wright, M.; Pilz, D.; Lazarou, L.; Cooper, D.; Sampson, J.; Butler, R.; Whatley, S.; Clarke, A.
2007Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressorMcKenzie, O.; Ponte, I.; Mangelsdorf, M.; Finnis, M.; Colasante, G.; Shoubridge, C.; Stifani, S.; Gecz, J.; Broccoli, V.
2006Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeatSantos-Reboucas, C.; Abdalla, C.; Fullston, T.; Campos Jr, M.; Pimentel, M.; Gecz, J.