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Results 1-9 of 9 (Search time: 0.002 seconds).
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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.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2014
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation
Lee, K.
;
Mattiske, T.
;
Kitamura, K.
;
Gecz, J.
;
Shoubridge, C.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
Shoubridge, C.
;
Cloosterman, D.
;
Parkinson-Lawrence, E.
;
Brooks, D.
;
Gecz, J.
2007
Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor
McKenzie, O.
;
Ponte, I.
;
Mangelsdorf, M.
;
Finnis, M.
;
Colasante, G.
;
Shoubridge, C.
;
Stifani, S.
;
Gecz, J.
;
Broccoli, V.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, M.
Discover
Author
5
Shoubridge, C.
2
Broccoli, V.
2
Cloosterman, D.
2
Jolly, L.
1
Abidi, F.
1
Brooks, D.
1
Carrel, L.
1
Cohen, M.
1
Colasante, G.
1
Collombat, P.
.
next >
Subject
9
Humans
8
Mutation
6
Homeodomain Proteins
6
Mice
4
Female
4
Male
4
Mental Retardation, X-Linked
3
Cells, Cultured
3
Gene Expression Regulation, Devel...
3
Intellectual Disability
.
next >
Date issued
4
2010 - 2014
5
2001 - 2009