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Issue Date
Title
Author(s)
2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutations
Baker, N.
;
Morgelin, M.
;
Pace, R.
;
Peat, R.
;
Adams, N.
;
Gardner, R.
;
Rowland, L.
;
Miller, G.
;
De Jonghe, P.
;
Ceulemans, B.
;
Hannibal, M.
;
Edwards, M.
;
Thompson, E.
;
Jacobson, R.
;
Quinlivan, R.
;
Aftimos, S.
;
Kornberg, A.
;
North, K.
;
Bateman, J.
;
Lamande, S.
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.
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.
2014
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation
Lee, K.
;
Mattiske, T.
;
Kitamura, K.
;
Gecz, J.
;
Shoubridge, C.
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.
2015
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
Kumar, R.
;
Corbett, M.
;
Smith, N.
;
Jolly, L.
;
Tan, C.
;
Keating, D.
;
Duffield, M.
;
Utsumi, T.
;
Moriya, K.
;
Smith, K.
;
Hoischen, A.
;
Abbott, K.
;
Harbord, M.
;
Compton, A.
;
Woenig, J.
;
Arts, P.
;
Kwint, M.
;
Wieskamp, N.
;
Gijsen, S.
;
Veltman, J.
;
et al.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
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.
2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Froyen, G.
;
Corbett, M.
;
Vandewalle, J.
;
Jarvela, I.
;
Lawrence, O.
;
Meldrum, C.
;
Bauters, M.
;
Govaerts, K.
;
Vandeleur, L.
;
Van Esch, H.
;
Chelly, J.
;
Sanlaville, D.
;
van Bokhoven, H.
;
Ropers, H.
;
Laumonnier, F.
;
Ranieri, E.
;
Schwartz, C.
;
Abidi, F.
;
Tarpey, P.
;
Futreal, 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.
Discover
Author
47
Gecz, J.
30
Hopwood, J.
27
et al.
13
Haan, E.
13
Scheffer, I.
12
Berkovic, S.
10
Mulley, J.
9
Brooks, D.
9
Dibbens, L.
9
Weber, B.
.
next >
Subject
132
Humans
78
Male
67
Female
43
Animals
35
Adult
35
Pedigree
34
Phenotype
33
Child
28
Molecular Sequence Data
27
Child, Preschool
.
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Date issued
39
2010 - 2018
78
2000 - 2009
21
1995 - 1999