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Results 1-10 of 39 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Jones, J.L.
;
Corbett, M.A.
;
Yeaman, E.
;
Zhao, D.
;
Gecz, J.
;
Gasperini, R.J.
;
Charlesworth, J.C.
;
Mackey, D.A.
;
Elder, J.E.
;
Craig, J.E.
;
Burdon, K.P.
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.
2019
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
Khayat, W.
;
Hackett, A.
;
Shaw, M.
;
Ilie, A.
;
Dudding-Byth, T.
;
Kalscheuer, V.M.
;
Christie, L.
;
Corbett, M.A.
;
Juusola, J.
;
Friend, K.L.
;
Kirmse, B.M.
;
Gecz, J.
;
Field, M.
;
Orlowski, J.
2020
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics
Gecz, J.
;
Thomas, P.Q.
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.
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.
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.
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.
2015
Seizures are regulated by ubiquitin-specific peptidase 9 x-linked (USP9X), a de-ubiquitinase
Paemka, L.
;
Mahajan, V.
;
Ehaideb, S.
;
Skeie, J.
;
Tan, M.
;
Wu, S.
;
Cox, A.
;
Sowers, L.
;
Gecz, J.
;
Jolly, L.
;
Ferguson, P.
;
Darbro, B.
;
Schneider, A.
;
Scheffer, I.
;
Carvill, G.
;
Mefford, H.
;
El-Shanti, H.
;
Wood, S.
;
Manak, J.
;
Bassuk, A.
;
Frankel, W.
Discover
Author
8
Jolly, L.
8
Shoubridge, C.
6
Shaw, M.
5
Corbett, M.
4
et al.
4
Gardner, A.
4
Kalscheuer, V.
4
Nguyen, L.
3
Corbett, M.A.
3
Haan, E.
.
next >
Subject
26
Mice
23
Mutation
19
Male
17
Female
14
Intellectual Disability
13
Molecular Sequence Data
12
Pedigree
10
Amino Acid Sequence
10
Brain
10
Transcription Factors
.
next >
Date issued
2
2020 - 2021
21
2010 - 2019
16
2000 - 2009