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Results 1-10 of 20 (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.
2000Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndromeVillard, L.; Fontes, M.; Ades, L.; Gecz, J.
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.
2004Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasiaShaw, M.; Gecz, J.; McDonough, B.; Hodess, A.; Harter, D.
2008Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesJaekle Santos, L.; Xing, C.; Barnes, R.; Ades, L.; Megarbane, A.; Vidal, C.; Xuereb, A.; Tarpey, P.; Smith, R.; Khazab, M.; Shoubridge, C.; Partington, M.; Futreal, P.; Stratton, M.; Gecz, J.; Zinn, A.
2008Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMolinari, F.; Foulquier, F.; Tarpey, P.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.; Stratton, M.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.
2004Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.Partington, M.; Turner, G.; Boyle, J.; Gecz, J.
20041024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome familyLower, K.; Solders, G.; Bondeson, M.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.
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.