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Issue Date
Title
Author(s)
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.
2008
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Jaekle Santos, L.
;
Xing, C.
;
Barnes, R.
;
Ades, L.
;
Megarbane, A.
;
Vidal, C.
;
Xuereb, A.
;
Tarpey, P.
;
Smith, R.
;
Khazab, M.
;
Shoubridge, C.
;
Partington, M.
;
Futreal, P.
;
Stratton, M.
;
Gecz, J.
;
Zinn, A.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2001
Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator
Hillman, 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
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.
2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
Van Esch, H.
;
Bauters, M.
;
Ignatius, J.
;
Jansen, M.
;
Raynaud, M.
;
Hollanders, K.
;
Lutenberg, D.
;
Bienvenu, T.
;
Jensen, L.
;
Gecz, J.
;
Moraine, C.
;
Marynen, P.
;
Fryns, J.
;
Froyen, G.
Discover
Author
10
Fryns, J.
9
Moraine, C.
9
Ropers, H.
8
Kalscheuer, V.
7
Chelly, J.
6
Partington, M.
6
Shaw, M.
6
Turner, G.
5
Jensen, L.
5
Moser, B.
.
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Subject
29
Male
29
Mutation
20
Female
20
Pedigree
19
Molecular Sequence Data
18
Chromosomes, Human, X
16
Intellectual Disability
16
Mental Retardation, X-Linked
15
Transcription Factors
13
Animals
.
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Date issued
4
2009
4
2008
5
2007
4
2006
4
2005
9
2004
9
2003
5
2002
3
2001
4
2000
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