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Results 1-7 of 7 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Frints, S.
;
Lenzer, S.
;
Bauters, M.
;
Jensen, L.
;
Van Esch, H.
;
des Portes, V.
;
Moog, U.
;
Macville, M.
;
Roozendaal, K.
;
Schrander-Stumpel, C.
;
Tzschach, A.
;
Marynen, P.
;
Fryns, J.
;
Hamel, B.
;
van Bokhoven, H.
;
Chelly, J.
;
Beldjord, C.
;
Turner, G.
;
Gecz, J.
;
Moraine, C.
;
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.
2003
Nonsyndromic x-linked mental retardation: where are the missing mutations?
Ropers, H.
;
Hoeltzenbein, M.
;
Kalscheuer, V.
;
Yntema, H.
;
Hamel, B.
;
Fryns, J.
;
Chelly, J.
;
Partington, M.
;
Gecz, J.
;
Moraine, C.
2010
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Laumonnier, F.
;
Shoubridge, C.
;
Antar, C.
;
Nguyen, L.
;
Van Esch, H.
;
Kleefstra, T.
;
Briault, S.
;
Fryns, J.
;
Hamel, B.
;
Chelly, J.
;
Ropers, H.
;
Ronce, N.
;
Blesson, S.
;
Moraine, C.
;
Gecz, J.
;
Raynaud, M.
2006
ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Lugtenberg, D.
;
Yntema, H.
;
Banning, M.
;
Oudakker, A.
;
Firth, H.
;
Willatt, L.
;
Raynaud, M.
;
Kleefstra, T.
;
Fryns, J.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
van Reeuwijk, J.
;
Nabuurs, S.
;
de Vries, B.
;
Hamel, B.
;
de Brouwer, A.
;
van Bokhoven, H.
2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Jensen, L.
;
Bartenschlager, H.
;
Rujirabanjerd, S.
;
Tzschach, A.
;
Numann, A.
;
Janecke, A.
;
Sporle, R.
;
Stricker, S.
;
Raynaud, M.
;
Nelson, J.
;
Hackett, A.
;
Fryns, J.
;
Chelly, J.
;
de Brouwer, A.
;
Hamel, B.
;
Gecz, J.
;
Ropers, H.
;
Kuss, A.
Discover
Author
7
Fryns, J.
6
Moraine, C.
6
Ropers, H.
4
Jensen, L.
3
Kalscheuer, V.
3
Kleefstra, T.
3
Raynaud, M.
3
Tzschach, A.
3
van Bokhoven, H.
3
Van Esch, H.
.
next >
Subject
4
Humans
3
Child, Preschool
3
Male
3
Mental Retardation, X-Linked
2
Adult
2
Child
2
Chromosomes, Human, X
2
Female
2
Molecular Sequence Data
2
Mutation
.
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Date issued
2
2010
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2006
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2005
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2004
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2003