Adelaide Research & Scholarship: Search

Search

Search:
for

Current filters:

Start a new search

Add filters:

Results/Page | Sort items by In order Authors/record

Results 1-10 of 12 (Search time: 0.002 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2000	FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations	Gecz, J.
	2000	Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome	Villard, L.; Fontes, M.; Ades, L.; Gecz, J.
	2007	Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region	Froyen, 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.
	2002	Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation	Turner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
	2008	Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation	Molinari, 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.
	2005	Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males	Van 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.
	2005	Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation	Jensen, L.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.; Tariverdian, G.; Chelly, J.; Fryns, J.; Van Esch, H.; Kleefstra, T.; Hamel, B.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.; Ropers, H.; Lenzer, S.
	2003	Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation	Burdon, 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.
	2002	Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX	Stromme, P.; Mangelsdorf, M.; Scheffer, I.; Gecz, J.
	2002	Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy	Stromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.