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Results 111-120 of 134 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell divisionShoubridge, C.; Tan, M.; Fullston, T.; Cloosterman, D.; Coman, D.; McGillivray, G.; Mancini, G.; Kleefstra, T.; Gecz, J.
2010A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CJensen, L.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A.; Janecke, A.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.; Chelly, J.; de Brouwer, A.; Hamel, B.; Gecz, J.; Ropers, H.; Kuss, A.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2013CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signalingStarokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G.; Mao, X.; Zaidi, I.; Hein, M.; McDonald, F.; Lenzner, S.; Zecha, A.; Ropers, H.; Kuss, A.; McGaughran, J.; Gecz, J.; Burstein, E.
2005Rett syndrome: clinical review and genetic updateWeaving, L.; Ellaway, C.; Gecz, J.; Christodoulou, J.
2002Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardationLossi, A.; Laugier-Anfossi, F.; Depetris, D.; Gecz, J.; Gedeon, A.; Kooy, F.; Schwartz, C.; Mattei, M.; Croquette, M.; Villard, L.
2006Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientCrawford, J.; Lower, K.; Hennekam, R.; Van Esch, H.; Megarbane, A.; Lynch, S.; Turner, G.; Gecz, J.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2002Evolution of the human X - a smart and sexy chromosome that controls speciation and developmentGraves, J.; Gecz, J.; Hameister, H.
2003Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndromeBaumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.