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Results 1-10 of 67 (Search time: 0.001 seconds).
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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.
2004Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesCantagrel, V.; Lossi, A.; Boulanger, S.; Depetris, D.; Mattei, M.; Gecz, J.; Schwartz, C.; van Maldergem, L.; Villard, L.
2004TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristophe-Hobertus, C.; Kooy, F.; Gecz, J.; Abramowicz, M.; Holinski-Feder, E.; Schwartz, C.; Christophe, D.
2008A novel locus for X-linked congenital cataract on Xq24Craig, J.; Friend, K.; Gecz, J.; Rattray, K.; Trotski, M.; Mackey, D.; Burdon, K.
2009Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13Shoubridge, C.; Tan, M.; Fullston, T.; McGillivray, G.; Mancini, G.; Gecz, J.; Annual meeting of the American Society of Human Genetics (59th : 2009 : Honolulu, Hawaii)
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
2003Brain cysts associated with mutation in the Aristaless related homeobox gene, ARXStromme, P.; Bakke, S.; Dahl, A.; Gecz, J.
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.
2003Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiencyBirrell, G.; Lampe, A.; Richmond, S.; Bruce, S.; Gecz, J.; Lower, K.; Wright, M.
2004The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brainGecz, J.