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Results 1-10 of 11 (Search time: 0.009 seconds).
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Issue Date
Title
Author(s)
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
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.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2003
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
Gedeon, A.
;
Nelson, J.
;
Gecz, J.
;
Mulley, J.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2005
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Jensen, L.
;
Amende, M.
;
Gurok, U.
;
Moser, B.
;
Gimmel, V.
;
Tzschach, A.
;
Janecke, A.
;
Tariverdian, G.
;
Chelly, J.
;
Fryns, J.
;
Van Esch, H.
;
Kleefstra, T.
;
Hamel, B.
;
Moraine, C.
;
Gecz, J.
;
Turner, G.
;
Reinhardt, R.
;
Kalscheuer, V.
;
Ropers, H.
;
Lenzer, S.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2002
X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX
Scheffer, I.
;
Wallace, R.
;
Phillips, F.
;
Hewson, P.
;
Reardon, K.
;
Parasivam, G.
;
Stromme, P.
;
Berkovic, S.
;
Gecz, J.
;
Mulley, J.
Discover
Author
2
Van Esch, H.
1
Ahmed, S.
1
Ali, A.
1
Amaral, D.
1
Amende, M.
1
Andersen, U.
1
Baker, C.
1
Bauters, M.
1
Bieth, E.
1
Bisulli, F.
.
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Subject
10
Female
7
Mutation
7
Pedigree
6
Child, Preschool
6
Intellectual Disability
4
Adolescent
4
Middle Aged
4
Syndrome
3
Chromosomes, Human, X
3
Genetic Linkage
.
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Date issued
6
2010 - 2018
5
2002 - 2009