DSpace

DSpace at RU >

Browsing by Author Moraine, C.

Jump to a point in the index:
Or type in a year:
Sort by: In order: Results/Page Authors/Record:
Showing results 1 to 21 of 21
Full TextIssue DateTitleAuthor(s)
2010Recurrent 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., et al
2010Mutations 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, et al
2009A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.Bashiardes, S.; Kousoulidou, L.; Bokhoven, J.H.L.M. van; Ropers, H.H.; Chelly, J., et al
2008MCT8 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, et al
2007Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H., et al
2007Mutation 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., et al
2007Loss 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., et al
2007Mutation 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., et al
2007X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.Jensen, L.R.; Lenzner, S.; Moser, B.; Freude, K.; Tzschach, A., et al
2006Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.Lugtenberg, D.; Brouwer, A.P.M. de; Kleefstra, T.; Oudakker, A.R.; Frints, S.G., et al
2006ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental RetardationLugtenberg, D.; Yntema, H.G.; Banning, M.J.G.; Oudakker, A.R.; Firth, H., et al
2006Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.Poirier, K.; Lacombe, D.; Gilbert-Dussardier, B.; Raynaud, M.; Desportes, V., et al
2006Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.Hagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Zutven, L. Van, et al
2005Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.Laumonnier, F.; Holbert, S.; Ronce, N.; Faravelli, F.; Lenzner, S., et al
2005Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.M.M.; Moser, B., et al
2005Mutations 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., et al
2005Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.Poirier, K.; Francis, F.; Hamel, B.C.J.; Moraine, C.; Fryns, J.P., et al
2004Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.Kleefstra, T.; Yntema, H.G.; Oudakker, A.R.; Banning, M.J.G.; Kalscheuer, V.M.M., et al
2004High prevalence of SLC6A8 deficiency in X-linked mental retardation.Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Grauw, R.S. de; Yntema, H.G., et al
2004X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.Laumonnier, F.; Bonnet-Brilhault, F.; Gomot, M.; Blanc, R.; David, A., et al
2004Mutations 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, et al
Showing results 1 to 21 of 21

 

  DSpace Software Copyright © 2002-2011  Duraspace - Feedback