1. Adelaide Research & Scholarship

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Results 1-10 of 24 (Search time: 0.004 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.
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.
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.
2023The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.Brazane, M.; Dimitrova, D.G.; Pigeon, J.; Paolantoni, C.; Ye, T.; Marchand, V.; Da Silva, B.; Schaefer, E.; Angelova, M.T.; Stark, Z.; Delatycki, M.; Dudding-Byth, T.; Gecz, J.; Plaçais, P.-Y.; Teysset, L.; Préat, T.; Piton, A.; Hassan, B.A.; Roignant, J.-Y.; Motorin, Y.; et al.
2007Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionFroyen, G.; Bauters, M.; Boyle, J.; Van Esch, H.; van Bokhoven, H.; Ropers, H.; Moraine, C.; Chelly, J.; Fryns, J.; Marynen, P.; Gecz, J.; Turner, G.
2013ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHirata, H.; McMichael, G.; Haan, E.; MacLennan, A.; Yap, T.; Nguyen, L.; Shaw, M.; Gecz, J.
2013Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disabilityMelko, M.; Nguyen, L.; Shaw, M.; Jolly, L.; Bardoni, B.; Gecz, J.
2014Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationLee, K.; Mattiske, T.; Kitamura, K.; Gecz, J.; Shoubridge, C.
2016Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersMoey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
2001Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activatorHillman, M.; Gecz, J.

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