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Results 1-10 of 11 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
2004
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males
Cantagrel, V.
;
Lossi, A.
;
Boulanger, S.
;
Depetris, D.
;
Mattei, M.
;
Gecz, J.
;
Schwartz, C.
;
van Maldergem, L.
;
Villard, L.
2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christophe-Hobertus, C.
;
Kooy, F.
;
Gecz, J.
;
Abramowicz, M.
;
Holinski-Feder, E.
;
Schwartz, C.
;
Christophe, D.
2004
The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
Gecz, J.
2004
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
Colombo, E.
;
Galli, R.
;
Cossu, G.
;
Gecz, J.
;
Broccoli, V.
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
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.
2004
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
Tao, J.
;
Van Esch, H.
;
Hagedorn-Greiwe, M.
;
Hoffmann, K.
;
Moser, B.
;
Raynaud, M.
;
Sperner, J.
;
Fryns, J.
;
Schwinger, E.
;
Gecz, J.
;
Ropers, H.
;
Kalscheuer, V.
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.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
Discover
Author
3
Partington, M.
3
Turner, G.
2
Delatycki, M.
2
Fryns, J.
2
Hoffmann, K.
2
Kalscheuer, V.
2
Lower, K.
2
Moser, B.
2
Ropers, H.
2
Schwartz, C.
.
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Subject
9
Humans
6
Mental Retardation, X-Linked
6
Pedigree
5
Male
5
Mutation
4
Chromosomes, Human, X
4
Sequence Analysis, DNA
3
Base Sequence
3
Female
3
Molecular Sequence Data
.
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