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Results 1-10 of 18 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2008A novel locus for X-linked congenital cataract on Xq24Craig, J.; Friend, K.; Gecz, J.; Rattray, K.; Trotski, M.; Mackey, D.; Burdon, K.
2005XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneStepp, M.; Cason, A.; Finnis, M.; Mangelsdorf, M.; Holinski-Feder, E.; Macgregor, D.; MacMillan, A.; Holden, J.; Gecz, J.; Stevenson, R.; Schwartz, C.
2004The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brainGecz, J.
2007Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionFroyen, G.; Bauters, M.; Boyle, J.; Van Esch, H.; van Bokhoven, H.; Ropers, H.; Moraine, C.; Chelly, J.; Fryns, J.; Marynen, P.; Gecz, J.; Turner, G.
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
2006Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationHagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Van Zutven, L.; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.; Chelly, J.; van Bokhoven, H.; Gecz, J.; Dollfus, H.; Ropers, H.; Schwartz, C.; de Cassia Stocco dos Santos, R.; Kalscheuer, V.; Hanauer, A.
2004Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationTao, J.; Van Esch, H.; Hagedorn-Greiwe, M.; Hoffmann, K.; Moser, B.; Raynaud, M.; Sperner, J.; Fryns, J.; Schwinger, E.; Gecz, J.; Ropers, H.; Kalscheuer, V.
2005Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesVan Esch, H.; Bauters, M.; Ignatius, J.; Jansen, M.; Raynaud, M.; Hollanders, K.; Lutenberg, D.; Bienvenu, T.; Jensen, L.; Gecz, J.; Moraine, C.; Marynen, P.; Fryns, J.; Froyen, G.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H.
2004Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationWeaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J.