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PreviewIssue DateTitleAuthor(s)
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)
2010ARX spectrum disorders: Making inroads into the molecular pathologyShoubridge, C.; Fullston, T.; Gecz, J.
2009Clinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX GeneDemos, M.; Fullston, T.; Partington, M.; Gecz, J.; Gibson, W.
2009A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generationsReish, O.; Fullston, T.; Regev, M.; Heyman, E.; Gecz, J.
2011Inherited Balanced Translocation t(9;17)(q33.2;q25.3) Concomitant With a 16p13.1 Duplication in a Patient With SchizophreniaFullston, T.; Gabb, B.; Callen, D.; Ullmann, R.; Woollatt, E.; Bain, S.; Ropers, H.; Cooper, M.; Chandler, D.; Carter, K.; Jablensky, A.; Kalaydjieva, L.; Gecz, J.
2010Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Fullston, T.; Brueton, L.; Willis, T.; Philip, S.; MacPherson, L.; Finnis, M.; Gecz, J.; Morton, J.
2006Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeatSantos-Reboucas, C.; Abdalla, C.; Fullston, T.; Campos Jr, M.; Pimentel, M.; Gecz, J.
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.
2010Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersWhite, R.; Ho, G.; Schmidt, S.; Scheffer, I.; Fischer, A.; Yendle, S.; Bienvenu, T.; Nectoux, J.; Ellaway, C.; Darmanian, A.; Tong, X.; Cloosterman, D.; Bennetts, B.; Kalra, V.; Fullston, T.; Gecz, J.; Cox, T.; Christodoulou, J.

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