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Results 1-10 of 14 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
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 in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
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.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
Discover
Author
6
et al.
5
Kalscheuer, V.
3
Fryns, J.
3
Hoffmann, K.
3
Moser, B.
3
Ropers, H.
3
Van Esch, H.
2
Chelly, J.
2
Christodoulou, J.
2
Freude, K.
.
next >
Subject
14
Humans
11
Mutation
10
Female
10
Male
9
Amino Acid Sequence
8
Base Sequence
7
Adult
6
Animals
5
Chromosomes, Human, X
5
Intellectual Disability
.
next >
Date issued
4
2010 - 2012
10
2001 - 2009