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Results 1-10 of 27 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
2009
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure
Bensaid, M.
;
Melko, M.
;
Bechara, E.
;
Davidovic, L.
;
Berretta, A.
;
Catania, M.
;
Gecz, J.
;
Lalli, E.
;
Bardoni, B.
2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
Bruno, I.
;
Karam, R.
;
Huang, L.
;
Bhardwaj, A.
;
Lou, C.
;
Shum, E.
;
Song, H.
;
Corbett, M.
;
Gifford, W.
;
Gecz, J.
;
Pfaff, S.
;
Wilkinson, M.
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.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
2017
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors
Bridges, C.
;
Tan, M.
;
Premarathne, S.
;
Nanayakkara, D.
;
Bellette, B.
;
Zencak, D.
;
Domingo, D.
;
Gecz, J.
;
Murtaza, M.
;
Jolly, L.
;
Wood, S.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2013
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis
Stegeman, S.
;
Jolly, L.
;
Premarathne, S.
;
Gecz, J.
;
Richards, L.
;
Mackay-Sim, A.
;
Wood, S.
2013
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
Jolly, L.
;
Homan, C.
;
Jacob, R.
;
Barry, S.
;
Gecz, J.
Discover
Author
9
Jolly, L.
6
Shoubridge, C.
5
Corbett, M.
5
Shaw, M.
4
Gardner, A.
4
Kalscheuer, V.
4
Nguyen, L.
4
Wood, S.
3
et al.
3
Haan, E.
.
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Subject
27
Animals
26
Humans
17
Mutation
14
Female
14
Male
11
Intellectual Disability
9
Brain
9
Molecular Sequence Data
9
Neurons
9
Pedigree
.
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Date issued
17
2010 - 2019
10
2002 - 2009