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Results 1-10 of 16 (Search time: 0.002 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.
2000
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
Villard, L.
;
Fontes, M.
;
Ades, L.
;
Gecz, J.
2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Froyen, G.
;
Bauters, M.
;
Boyle, J.
;
Van Esch, H.
;
van Bokhoven, H.
;
Ropers, H.
;
Moraine, C.
;
Chelly, J.
;
Fryns, J.
;
Marynen, P.
;
Gecz, J.
;
Turner, G.
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.
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.
2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
Van Esch, H.
;
Bauters, M.
;
Ignatius, J.
;
Jansen, M.
;
Raynaud, M.
;
Hollanders, K.
;
Lutenberg, D.
;
Bienvenu, T.
;
Jensen, L.
;
Gecz, J.
;
Moraine, C.
;
Marynen, P.
;
Fryns, J.
;
Froyen, G.
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.
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.
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.
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.
Discover
Author
4
Fryns, J.
4
Moraine, C.
4
Turner, G.
3
Kalscheuer, V.
3
Ropers, H.
3
Van Esch, H.
2
Bauters, M.
2
Bienvenu, T.
2
Chelly, J.
2
et al.
.
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Subject
16
Humans
11
Male
11
Mutation
9
Pedigree
7
Female
7
Molecular Sequence Data
6
Chromosomes, Human, X
6
Phenotype
5
Amino Acid Sequence
5
Base Sequence
.
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