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Results 1-10 of 15 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
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.
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.
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.
2004
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
Tao, J.
;
Van Esch, H.
;
Hagedorn-Greiwe, M.
;
Hoffmann, K.
;
Moser, B.
;
Raynaud, M.
;
Sperner, J.
;
Fryns, J.
;
Schwinger, E.
;
Gecz, J.
;
Ropers, H.
;
Kalscheuer, V.
2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
Weaving, L.
;
Christodoulou, J.
;
Williamson, S.
;
Friend, K.
;
McKenzie, O.
;
Archer, H.
;
Evans, J.
;
Clarke, A.
;
Pelka, G.
;
Tam, P.
;
Watson, C.
;
Lahooti, H.
;
Ellaway, C.
;
Bennetts, B.
;
Leonard, H.
;
Gecz, J.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Kalscheuer, V.
;
Tao, J.
;
Donnelly, A.
;
Hollway, G.
;
Schwinger, E.
;
Kubart, S.
;
Menzel, C.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Eyre, H.
;
Harbord, M.
;
Haan, E.
;
Sutherland, G.
;
Ropers, H.
;
Gecz, J.
1997
FMR2 expression in families with FRAXE mental retardation
Gecz, J.
;
Oostra, B.
;
Hockey, A.
;
Carbonell, P.
;
Turner, G.
;
Haan, E.
;
Sutherland, G.
;
Mulley, J.
Discover
Author
5
Ropers, H.
4
Haan, E.
4
Kalscheuer, V.
3
Chelly, J.
3
et al.
3
Fryns, J.
3
Van Esch, H.
2
Christodoulou, J.
2
Hoeltzenbein, M.
2
Leonard, H.
.
next >
Subject
15
Humans
9
Male
9
Mutation
8
Female
8
Pedigree
6
Amino Acid Sequence
6
Animals
6
Chromosomes, Human, X
4
Brain
4
DNA Mutational Analysis
.
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Date issued
3
2010 - 2012
11
2000 - 2009
1
1997 - 1999