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Results 1-10 of 56 (Search time: 0.002 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.
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.
2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M.E.K.
;
Martin, H.C.
;
Rice, D.L.
;
Gallone, G.
;
Gordon, S.
;
Kelemen, M.
;
McAloney, K.
;
McRae, J.
;
Radford, E.J.
;
Yu, S.
;
Gecz, J.
;
Martin, N.G.
;
Wright, C.F.
;
Fitzpatrick, D.R.
;
Firth, H.V.
;
Hurles, M.E.
;
Barrett, J.C.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
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.
2016
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism
Hughes, J.
;
Aubert, M.
;
Heatlie, J.
;
Gardner, A.
;
Gecz, J.
;
Morgan, T.
;
Belsky, J.
;
Thomas, P.
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.
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
10
Corbett, M.
10
Jolly, L.
9
Haan, E.
8
et al.
8
Shoubridge, C.
7
Berkovic, S.
7
Gardner, A.
7
Hackett, A.
7
Nguyen, L.
7
Scheffer, I.
.
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Subject
41
Male
39
Female
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Mutation
23
Intellectual Disability
21
Animals
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Pedigree
16
Child
16
Mice
14
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11
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