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Results 1-10 of 15 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
;
Van Esch, H.
;
van Bokhoven, H.
;
Ropers, H.
;
Moraine, C.
;
Chelly, J.
;
Fryns, J.
;
Marynen, P.
;
Gecz, J.
;
Turner, G.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
2004
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
Partington, M.
;
Turner, G.
;
Boyle, J.
;
Gecz, J.
2004
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
Turner, G.
;
Lower, K.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Wright, M.
;
Clayton-Smith, J.
;
Kerr, B.
;
Schelley, S.
;
Hoyme, H.
;
de Vries, B.
;
Kleefstra, T.
;
Grompe, M.
;
Cox, B.
;
Gecz, J.
;
Partington, M.
2004
1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
Lower, K.
;
Solders, G.
;
Bondeson, M.
;
Nelson, J.
;
Brun, A.
;
Crawford, J.
;
Malm, G.
;
Borjeson, M.
;
Turner, G.
;
Partington, M.
;
Gecz, J.
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.
2010
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Hackett, A.
;
Tarpey, P.
;
Licata, A.
;
Cox, J.
;
Whibley, A.
;
Boyle, J.
;
Rogers, C.
;
Grigg, J.
;
Partington, M.
;
Stevenson, R.
;
Tolmie, J.
;
Yates, J.
;
Turner, G.
;
Wilson, M.
;
Futreal, P.
;
Corbett, M.
;
Shaw, M.
;
Gecz, J.
;
Raymond, F.
;
Stratton, M.
2010
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
Rujirabanjerd, S.
;
Nelson, J.
;
Tarpey, P.
;
Hackett, A.
;
Edkins, S.
;
Raymond, F.
;
Schwartz, C.
;
Turner, G.
;
Iwase, S.
;
Shi, Y.
;
Futreal, P.
;
Stratton, M.
;
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.
;
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.
Discover
Author
3
Fryns, J.
3
Hackett, A.
3
Lower, K.
3
Moraine, C.
3
Raymond, F.
2
Bauters, M.
2
Edkins, S.
2
et al.
2
Froyen, G.
2
Haan, E.
.
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Subject
8
Humans
7
Male
6
Female
6
Pedigree
5
Adult
4
Intellectual Disability
4
Mental Retardation, X-Linked
4
Mutation
3
Child
3
Molecular Sequence Data
.
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