Adelaide Research & Scholarship: Search

Search

Results 11-20 of 22 (Search time: 0.003 seconds).

Item hits:

Preview	Issue Date	Title	Author(s)
	2010	PHF6 mutations in T-cell acute lymphoblastic leukemia	Van Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
	2004	Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation	Weaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J.
	2009	Lessons learnt from large-scale exon re-sequencing of the X chromosome	Raymond, F.; Whibley, A.; Stratton, M.; Gecz, J.
	2002	ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation	Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
	2009	The genetic landscape of intellectual disability arising from chromosome X	Gecz, J.; Shoubridge, C.; Corbett, M.
	2003	Nonsyndromic 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.
	2003	Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)	Savarirayan, R.; Thompson, E.; Gecz, J.
	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.
	2014	Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth	Homan, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
	2013	CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling	Starokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G.; Mao, X.; Zaidi, I.; Hein, M.; McDonald, F.; Lenzner, S.; Zecha, A.; Ropers, H.; Kuss, A.; McGaughran, J.; Gecz, J.; Burstein, E.