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Full Text	Issue Date	Title	Author(s)
	2010	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.	Giannandrea, M.; Bianchi, V.; Mignogna, M.L.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.H.; Tzschach, A.; Kalscheuer, V.M.M.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.E.; Gecz, J.; Esch, H. van; Raynaud, M.; Chelly, J.; Brouwer, A.P.M. de; Toniolo, D.; D'Adamo, P.
	2010	A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.	Jensen, L.R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A.; Janecke, A.R.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.P.; Chelly, J.; Brouwer, A.P.M. de; Hamel, B.C.J.; Gecz, J.; Ropers, H.H.; Kuss, A.W.
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.C.; Oudakker, A.R.; Kjaergaard, S.; Vianna-Morgante, A.M.; Kleefstra, T.; Ruiter, E.M.; Jehee, F.S.; Ullmann, R.; Schwartz, C.E.; Stratton, M.; Raymond, F.L.; Veltman, J.A.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Froyen, G.; Chelly, J.; Ropers, H.H.; Moraine, C.; Gecz, J.; Knijnenburg, J.; Kant, S.G.; Hamel, B.C.J.; Rosenberg, C.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
	2010	Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.	Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.S.; Esch, H. van; Kleefstra, T.; Briault, S.; Fryns, J.P.; Hamel, B.C.J.; Chelly, J.; Ropers, H.H.; Ronce, N.; Blesson, S.; Moraine, C.; Gecz, J.; Raynaud, M.
	2010	Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.	Shoubridge, C.; Tan, M.H.; Fullston, T.; Cloosterman, D.; Coman, D.; McGillivray, G.; Mancini, G.M.; Kleefstra, T.; Gecz, J.
	2009	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.	Tarpey, P.S.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S.; Hardy, C.; O'Meara, S.; Latimer, C.; Dicks, E.; Menzies, A.; Stephens, P.; Blow, M.; Greenman, C.; Xue, Y.; Tyler-Smith, C.; Thompson, D.; Gray, K.; Andrews, J.; Barthorpe, S.; Buck, G.; Cole, J.; Dunmore, R.; Jones, D.; Maddison, M.; Mironenko, T.; Turner, R.; Turrell, K.; Varian, J.; West, S.; Widaa, S.; Wray, P.; Teague, J.; Butler, A.; Jenkinson, A.; Jia, M.; Richardson, D.; Shepherd, R.; Wooster, R.; Tejada, M.I.; Martinez, F.; Carvill, G.; Goliath, R.; Brouwer, A.P.M. de; Bokhoven, H. van; Esch, H. van; Chelly, J.; Raynaud, M.; Ropers, H.H.; Abidi, F.E.; Srivastava, A.K.; Cox, J.; Luo, Y.; Mallya, U.; Moon, J.; Parnau, J.; Mohammed, S.; Tolmie, J.L.; Shoubridge, C.; Corbett, M.; Gardner, A.; Haan, E.; Rujirabanjerd, S.; Shaw, M.A.; Vandeleur, L.; Fullston, T.; Easton, D.F.; Boyle, J.; Partington, M.; Hackett, A.; Field, M.; Skinner, C.; Stevenson, R.E.; Bobrow, M.; Turner, G.; Schwartz, C.E.; Gecz, J.; Raymond, F.L.; Futreal, P.A.; Stratton, M.R.
	2009	Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.	Lugtenberg, D.; Kleefstra, T.; Oudakker, A.R.; Nillesen, W.M.; Yntema, H.G.; Tzschach, A.; Raynaud, M.; Rating, D.; Journel, H.; Chelly, J.; Goizet, C.; Lacombe, D.; Pedespan, J.M.; Echenne, B.; Tariverdian, G.; O'Rourke, D.; King, M.D.; Green, A.; Kogelenberg, M. van; Esch, H. van; Gecz, J.; Hamel, B.C.J.; Bokhoven, H. van; Brouwer, A.P.M. de
	2008	Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.	Froyen, G.; Corbett, M.; Walle, J. van de; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Esch, H. van; Chelly, J.; Sanlaville, D.; Bokhoven, H. van; Ropers, H.H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.E.; Abidi, F.; Tarpey, P.S.; Futreal, P.A.; Whibley, A.; Raymond, F.L.; Stratton, M.R.; Fryns, J.P.; Scott, R.; Peippo, M.; Sipponen, M.; Partington, M.; Mowat, D.; Field, M.; Hackett, A.; Marynen, P.; Turner, G.; Gecz, J.
	2008	MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.	Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; Esch, H. van; Portes, V. des; Moog, U.; Macville, M.V.; Roozendaal, K. van; Schrander-Stumpel, C.T.; Tzschach, A.; Marynen, P.; Fryns, J.P.; Hamel, B.C.J.; Bokhoven, H. van; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H.H.; Froyen, G.; Kuss, A.W.
	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.; Esch, H. van; Govaerts, K.; Bokhoven, J.H.L.M. van; Ropers, H.H.; Moraine, C.; Chelly, J.; Fryns, J.P.; Marynen, P.; Gecz, J.; Turner, G.
	2007	Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.	Chen, W.; Jensen, L.R.; Gecz, J.; Fryns, J.P.; Moraine, C.; Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.H.; Kuss, A.W.
	2007	Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.	Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H.; Remm, M.; Turner, G.; Boyle, J.; Bokhoven, J.H.L.M. van; Brouwer, A.; Esch, H. van; Froyen, G.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Kurg, A.; Patsalis, P.C.
	2007	Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.	Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.R.; Vries, B. de; Bokhoven, J.H.L.M. van; Esch, H. van; Frints, S.G.; Froyen, G.; Fryns, J.P.; Raynaud, M.; Moizard, M.P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; Portes, V. des; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A.W.; Tzschach, A.; Jensen, L.R.; Lenzner, S.; Kalscheuer, V.M.M.; Ropers, H.H.; Hamel, B.C.J.
	2006	Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.	Hagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Zutven, L. Van; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.P.; Chelly, J.; Bokhoven, J.H.L.M. van; Gecz, J.; Dollfus, H.; Ropers, H.H.; Schwartz, C.E.; Santos, R.; Kalscheuer, V.M.M.; Hanauer, A.
	2006	ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation	Lugtenberg, D.; Yntema, H.G.; Banning, M.J.G.; Oudakker, A.R.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.P.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Reeuwijk, J. van; Nabuurs, S.B.; Vries, L.B.A. de; Hamel, B.C.J.; Brouwer, A.P.M. de; Bokhoven, J.H.L.M. van
	2005	Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.	Jensen, L.R.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.R.; Tariverdian, G.; Chelly, J.; Fryns, J.P.; Esch, H. van; Kleefstra, T.; Hamel, B.C.J.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.M.M.; Ropers, H.H.; Lenzner, S.
	2004	The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.	Turner, G.; Lower, K.M.; White, S.M.; Delatycki, M.B.; Lampe, A.K.; Wright, M.; Smith, J.C.; Kerr, B.A.; Schelley, S.; Hoyme, H.E.; Vries, L.B.A. de; Kleefstra, T.; Grompe, M.; Cox, B.; Gecz, J.; Partington, M.
	2004	Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.	Freude, K.; Hoffmann, K.; Jensen, L.R.; Delatycki, M.B.; Portes, V. des; Moser, B.; Hamel, B.C.J.; Bokhoven, J.H.L.M. van; Moraine, C.; Fryns, J.P.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.M.M.; Ropers, H.H.

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