Adelaide Research & Scholarship: Search

Search

Results 51-60 of 67 (Search time: 0.002 seconds).

previous
1
...
3
4
5
6
7
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2007	Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation	Chen, W.; Jensen, L.; Gecz, J.; Fryns, J.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.; Kuss, A.
	2000	The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects	Gecz, J.
	2003	Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation	Kalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al.
	2005	Early onset seizures and Rett-like features associated with mutations in CDKL5	Evans, J.; Archer, H.; Colley, J.; Ravn, K.; Nielsen, J.; Kerr, A.; Williams, E.; Christodoulou, J.; Gecz, J.; Jardine, P.; Wright, M.; Pilz, D.; Lazarou, L.; Cooper, D.; Sampson, J.; Butler, R.; Whatley, S.; Clarke, A.
	2007	Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor	McKenzie, O.; Ponte, I.; Mangelsdorf, M.; Finnis, M.; Colasante, G.; Shoubridge, C.; Stifani, S.; Gecz, J.; Broccoli, V.
	2006	Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat	Santos-Reboucas, C.; Abdalla, C.; Fullston, T.; Campos Jr, M.; Pimentel, M.; Gecz, J.
	2006	ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation	Lugtenberg, D.; Yntema, H.; Banning, M.; Oudakker, A.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; van Reeuwijk, J.; Nabuurs, S.; de Vries, B.; Hamel, B.; de Brouwer, A.; van Bokhoven, H.
	2005	Rett syndrome: clinical review and genetic update	Weaving, L.; Ellaway, C.; Gecz, J.; Christodoulou, J.
	2002	Abnormal 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 retardation	Lossi, A.; Laugier-Anfossi, F.; Depetris, D.; Gecz, J.; Gedeon, A.; Kooy, F.; Schwartz, C.; Mattei, M.; Croquette, M.; Villard, L.
	2006	Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient	Crawford, J.; Lower, K.; Hennekam, R.; Van Esch, H.; Megarbane, A.; Lynch, S.; Turner, G.; Gecz, J.