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Results 1-10 of 43 (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.
2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
Kolc, K.L.
;
Sadleir, L.G.
;
Depienne, C.
;
Marini, C.
;
Scheffer, I.E.
;
Møller, R.S.
;
Trivisano, M.
;
Specchio, N.
;
Pham, D.
;
Kumar, R.
;
Roberts, R.
;
Gecz, J.
2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
Bennett, M.F.
;
Oliver, K.L.
;
Regan, B.M.
;
Bellows, S.T.
;
Schneider, A.L.
;
Rafehi, H.
;
Sikta, N.
;
Crompton, D.E.
;
Coleman, M.
;
Hildebrand, M.S.
;
Corbett, M.A.
;
Kroes, T.
;
Gecz, J.
;
Scheffer, I.E.
;
Berkovic, S.F.
;
Bahlo, M.
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.
Discover
Author
9
Jolly, L.
7
Berkovic, S.
7
et al.
6
Corbett, M.
6
Gardner, A.
6
Haan, E.
6
Scheffer, I.
5
Dibbens, L.
5
Hackett, A.
5
Shoubridge, C.
.
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Subject
41
Humans
41
Male
24
Mutation
19
Intellectual Disability
16
Animals
16
Pedigree
13
Child
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Mice
11
Phenotype
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2018
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2016
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2015
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