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Issue Date
Title
Author(s)
2014
Nonsense-mediated mRNA decay: Inter-individual variability and human disease
Nguyen, L.
;
Wilkinson, M.
;
Gecz, J.
2015
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
McMichael, G.
;
Bainbridge, M.
;
Haan, E.
;
Corbett, M.
;
Gardner, A.
;
Thompson, S.
;
Van Bon, B.
;
Van Eyk, C.
;
Broadbent, J.
;
Reynolds, C.
;
O'Callaghan, M.
;
Nguyen, L.
;
Adelson, D.
;
Russo, R.
;
Jhangiani, S.
;
Doddapaneni, H.
;
Muzny, D.
;
Gibbs, R.
;
Gecz, J.
;
MacLennan, A.
2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Brookes, E.
;
Laurent, B.
;
Õunap, K.
;
Carroll, R.
;
Moeschler, J.
;
Field, M.
;
Schwartz, C.
;
Gecz, J.
;
Shi, Y.
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.
2013
FOXP1 mutations cause intellectual disability and a recognizable phenotype
Le Fevre, A.
;
Taylor, S.
;
Malek, N.
;
Horn, D.
;
Carr, C.
;
Abdul-Rahman, O.
;
O'Donnell, S.
;
Burgess, T.
;
Shaw, M.
;
Gecz, J.
;
Bain, N.
;
Fagan, K.
;
Hunter, M.
2012
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
Huang, L.
;
Poke, G.
;
Gecz, J.
;
Gibson, K.
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.
2010
ARX spectrum disorders: Making inroads into the molecular pathology
Shoubridge, C.
;
Fullston, T.
;
Gecz, J.
2009
Clinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX Gene
Demos, M.
;
Fullston, T.
;
Partington, M.
;
Gecz, J.
;
Gibson, W.
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.
Discover
Author
17
Shoubridge, C.
15
Ropers, H.
15
Turner, G.
14
Chelly, J.
14
et al.
14
Kalscheuer, V.
13
Fryns, J.
13
Haan, E.
13
Schwartz, C.
13
Shaw, M.
.
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Subject
87
Humans
52
Male
47
Mutation
42
Female
28
Intellectual Disability
28
Pedigree
26
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
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Date issued
2
2020 - 2023
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2010 - 2019
67
2000 - 2009
5
1997 - 1999