Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 31-40 of 67 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2003Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4Shaw, M.; Brunetti-Pierre, N.; Kadasi, L.; Kovacova, V.; van Maldergem, L.; De Brasi, D.; Salerno, M.; Gecz, J.
2009A UPF3-mediated regulatory switch that maintains RNA surveillanceChan, W.; Bhalla, A.; Le Hir, H.; Nguyen, L.; Huang, L.; Gecz, J.; Wilkinson, M.
2008XLMR genes: update 2007Chiurazzi, P.; Schwartz, C.; Gecz, J.; Neri, G.
2008MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionFrints, S.; Lenzer, S.; Bauters, M.; Jensen, L.; Van Esch, H.; des Portes, V.; Moog, U.; Macville, M.; Roozendaal, K.; Schrander-Stumpel, C.; Tzschach, A.; Marynen, P.; Fryns, J.; Hamel, B.; van Bokhoven, H.; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; et al.
2004Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationWeaving, 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.
2005Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationJensen, 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.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
2003Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationKalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J.
2009Lessons learnt from large-scale exon re-sequencing of the X chromosomeRaymond, F.; Whibley, A.; Stratton, M.; Gecz, J.
2002ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBienvenu, 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.