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PreviewIssue DateTitleAuthor(s)
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
2007The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 geneSchwartz, C.; Tarpey, P.; Lubs, H.; Verloes, A.; May, M.; Risheg, H.; Friez, M.; Futreal, P.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensin, R.; Joseph, S.; Jones, J.; Gecz, J.; Stratton, M.; Raymond, F.; Stevenson, R.
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.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
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.
2001The molecular basis of X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Tiller, G.; Le Merrer, M.; Heuertz, S.; Tranebjaerg, L.; Chitayat, D.; Robertson, S.; Glass, I.; Savarirayan, R.; Cole, W.; Rimoin, D.; Kousseff, B.; Ohashi, H.; Zabel, B.; Munnich, A.; Gecz, J.; Mulley, J.
2002Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARXStromme, P.; Mangelsdorf, M.; Scheffer, I.; Gecz, J.
2000The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspectsGecz, J.