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Results 21-29 of 29 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2002
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Stromme, P.
;
Mangelsdorf, M.
;
Scheffer, I.
;
Gecz, J.
2003
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
Savarirayan, R.
;
Thompson, E.
;
Gecz, J.
2000
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects
Gecz, J.
2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Kalscheuer, V.
;
Freude, K.
;
Musante, L.
;
Jensen, L.
;
Yntema, H.
;
Gecz, J.
;
Sefiani, A.
;
Hoffmann, K.
;
Moser, B.
;
Haas, S.
;
Gurok, U.
;
Haesler, S.
;
Aranda, B.
;
Nshedjan, A.
;
Tzschach, A.
;
Hartmann, N.
;
Roloff, T.
;
Shoichet, S.
;
Hagens, O.
;
Tao, J.
;
et al.
2005
Early onset seizures and Rett-like features associated with mutations in CDKL5
Evans, J.
;
Archer, H.
;
Colley, J.
;
Ravn, K.
;
Nielsen, J.
;
Kerr, A.
;
Williams, E.
;
Christodoulou, J.
;
Gecz, J.
;
Jardine, P.
;
Wright, M.
;
Pilz, D.
;
Lazarou, L.
;
Cooper, D.
;
Sampson, J.
;
Butler, R.
;
Whatley, S.
;
Clarke, A.
2007
Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor
McKenzie, O.
;
Ponte, I.
;
Mangelsdorf, M.
;
Finnis, M.
;
Colasante, G.
;
Shoubridge, C.
;
Stifani, S.
;
Gecz, J.
;
Broccoli, V.
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.
2001
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
Lower, K.
;
Gecz, J.
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, M.
Discover
Author
4
et al.
4
Fryns, J.
4
Kalscheuer, V.
4
Mangelsdorf, M.
4
Moraine, C.
4
Partington, M.
3
Chelly, J.
3
Ropers, H.
3
Schwartz, C.
3
Shaw, M.
.
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Subject
29
Humans
17
Male
13
Transcription Factors
12
Molecular Sequence Data
11
Female
11
Intellectual Disability
11
Mental Retardation, X-Linked
11
Pedigree
9
Amino Acid Sequence
9
Animals
.
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2008
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2002
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2000