1. Adelaide Research & Scholarship

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Results 91-100 of 139 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2011Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disabilityMelko, M.; Douguet, D.; Bensaid, M.; Zongaro, S.; Verheggen, C.; Gecz, J.; Bardoni, B.
2009The genetic landscape of intellectual disability arising from chromosome XGecz, J.; Shoubridge, C.; Corbett, M.
2008Exclusion of biglycan mutations in a cohort of patients with neuromuscular disordersPeat, R.; Gecz, J.; Fallon, J.; Tarpey, P.; Smith, R.; Futreal, P.; Stratton, M.; Lamande, S.; Yang, N.; North, K.
2003Nonsyndromic x-linked mental retardation: where are the missing mutations?Ropers, H.; Hoeltzenbein, M.; Kalscheuer, V.; Yntema, H.; Hamel, B.; Fryns, J.; Chelly, J.; Partington, M.; Gecz, J.; Moraine, C.
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
2007Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneShoubridge, C.; Cloosterman, D.; Parkinson-Lawrence, E.; Brooks, D.; Gecz, J.
2002Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARXStromme, P.; Mangelsdorf, M.; Scheffer, I.; Gecz, J.
2003Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)Savarirayan, R.; Thompson, E.; Gecz, J.

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