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PreviewIssue DateTitleAuthor(s)
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.
2003X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3Gedeon, A.; Nelson, J.; Gecz, J.; Mulley, J.
2005Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationJensen, L.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.; Tariverdian, G.; Chelly, J.; Fryns, J.; Van Esch, H.; Kleefstra, T.; Hamel, B.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.; Ropers, H.; Lenzer, S.
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.
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.
2006ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationLugtenberg, D.; Yntema, H.; Banning, M.; Oudakker, A.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; van Reeuwijk, J.; Nabuurs, S.; de Vries, B.; Hamel, B.; de Brouwer, A.; van Bokhoven, H.
2002X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARXScheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.