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Results 1-10 of 10 (Search time: 0.008 seconds).
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Issue Date
Title
Author(s)
2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Jackson, M.R.
;
Loring, K.E.
;
Homan, C.C.
;
Thai, H.N.
;
Määttänen, L.
;
Arvio, M.
;
Jarvela, I.
;
Shaw, M.
;
Gardner, A.
;
Gecz, J.
;
Shoubridge, C.
2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Ishibashi, M.
;
Manning, E.
;
Shoubridge, C.
;
Krecsmarik, M.
;
Hawkins, T.
;
Giacomotto, J.
;
Zhao, T.
;
Mueller, T.
;
Bader, P.
;
Cheung, S.
;
Stankiewicz, P.
;
Bain, N.
;
Hackett, A.
;
Reddy, C.
;
Mechaly, A.
;
Peers, B.
;
Wilson, S.
;
Lenhard, B.
;
Bally-Cuif, L.
;
Gecz, J.
;
et al.
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
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.
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.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
Weaving, L.
;
Christodoulou, J.
;
Williamson, S.
;
Friend, K.
;
McKenzie, O.
;
Archer, H.
;
Evans, J.
;
Clarke, A.
;
Pelka, G.
;
Tam, P.
;
Watson, C.
;
Lahooti, H.
;
Ellaway, C.
;
Bennetts, B.
;
Leonard, H.
;
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.
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.
2016
Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice
Pederick, D.
;
Homan, C.
;
Jaehne, E.
;
Piltz, S.
;
Haines, B.
;
Baune, B.
;
Jolly, L.
;
Hughes, J.
;
Gecz, J.
;
Thomas, P.
Discover
Author
3
et al.
3
Jolly, L.
3
Shoubridge, C.
2
Barry, S.
2
Corbett, M.
2
Gardner, A.
2
Homan, C.
2
Hughes, J.
2
Kalscheuer, V.
2
McKenzie, O.
.
next >
Subject
9
Mice
6
Female
6
Male
6
Mutation
5
Intellectual Disability
5
Neurons
5
Pedigree
4
Cells, Cultured
4
Gene Expression Regulation, Devel...
3
Autistic Disorder
.
next >
Date issued
8
2010 - 2019
2
2004 - 2009