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Results 11-20 of 35 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
et al.
2007
Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor
Tarpey, P.
;
Raymond, F.
;
O'Meara, S.
;
Edkins, S.
;
Teague, J.
;
Butler, A.
;
Dicks, E.
;
Stevens, C.
;
Tofts, C.
;
Avis, T.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Gray, K.
;
Halliday, K.
;
Harrison, R.
;
Hills, K.
;
Jenkinson, A.
;
Jones, D.
;
Menzies, A.
;
et al.
2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
Wu, Y.
;
Arai, A.
;
Rumbaugh, G.
;
Srivastava, A.
;
Turner, G.
;
Hayashi, T.
;
Suzuki, E.
;
Jiang, Y.
;
Zhang, L.
;
Rodriguez, J.
;
Boyle, J.
;
Tarpey, P.
;
Raymond, F.
;
Nevelsteen, J.
;
Froyen, G.
;
Stratton, M.
;
Futreal, P.
;
Gecz, J.
;
Stevenson, R.
;
Schwartz, C.
;
et al.
2007
Testing the 8-syndrome structure of the child behavior checklist in 30 societies
Ivanova, M.
;
Achenbach, T.
;
Dumenci, L.
;
Rescorla, L.
;
Almqvist, F.
;
Weintraub, S.
;
Bilenberg, N.
;
Bird, H.
;
Chen, W.
;
Dobrean, A.
;
Dopfner, M.
;
Erol, N.
;
Fombonne, E.
;
Fonseca, A.
;
Frigerio, A.
;
Grietens, H.
;
Hannesdottir, H.
;
Kanbayashi, Y.
;
Lambert, M.
;
Larsson, B.
;
et al.
2007
The generalizability of the Youth Self-Report syndrome structure in 23 societies
Ivanova, M.
;
Achenbach, T.
;
Dumenci, L.
;
Bilenberg, N.
;
Broberg, A.
;
Dopfner, M.
;
Forns, M.
;
Kanbayashi, Y.
;
Leung, P.
;
Mulatu, M.
;
Oh, K.
;
Sawyer, M.
;
Steinhausen, H.
;
Metzke, C.
;
Zilber, N.
;
Verhulst, F.
;
Rescorla, L.
;
Almqvist, F.
;
Bird, H.
;
Dobrean, A.
;
et al.
2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
Cavalleri, G.
;
Weale, M.
;
Shianna, K.
;
Singh, R.
;
Lynch, J.
;
Grinton, B.
;
Szoeke, C.
;
Murphy, K.
;
Kinirons, P.
;
O'Rourke, D.
;
Ge, D.
;
Depondt, C.
;
Claeys, K.
;
Pandolfo, M.
;
Gumbs, C.
;
Walley, N.
;
McNamara, J.
;
Mulley, J.
;
Linney, K.
;
Sheffield, L.
;
et al.
2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey, P.
;
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.
;
et al.
2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Frints, 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.
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.
;
Nillesen, W.
;
Yntema, H.
;
Tzschach, A.
;
Raynaud, M.
;
Rating, D.
;
Journel, H.
;
Chelly, J.
;
Goizet, C.
;
Lacombe, D.
;
Pedespan, J.
;
Echenne, B.
;
Tariverdian, G.
;
O'Rourke, D.
;
King, M.
;
Green, A.
;
Van Kogelenberg, M.
;
Van Esch, H.
;
et al.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
Discover
Author
8
Tarpey, P.
6
Edkins, S.
6
Gecz, J.
5
Dibbens, L.
5
O'Meara, S.
5
Van Esch, H.
4
Achenbach, T.
4
Almqvist, F.
4
Barthorpe, S.
4
Bilenberg, N.
.
next >
Subject
25
Humans
16
Female
16
Male
13
Pedigree
12
Mutation
10
Molecular Sequence Data
9
Mental Retardation, X-Linked
7
Adult
7
Child
7
Phenotype
.
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Date issued
5
2009
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2008
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2007
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2006
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2005
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2004
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2003
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2002