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Results 1-10 of 11 (Search time: 0.003 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.
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
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Jaekle Santos, L.
;
Xing, C.
;
Barnes, R.
;
Ades, L.
;
Megarbane, A.
;
Vidal, C.
;
Xuereb, A.
;
Tarpey, P.
;
Smith, R.
;
Khazab, M.
;
Shoubridge, C.
;
Partington, M.
;
Futreal, P.
;
Stratton, M.
;
Gecz, J.
;
Zinn, A.
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.
2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Tiller, G.
;
Le Merrer, M.
;
Heuertz, S.
;
Tranebjaerg, L.
;
Chitayat, D.
;
Robertson, S.
;
Glass, I.
;
Savarirayan, R.
;
Cole, W.
;
Rimoin, D.
;
Kousseff, B.
;
Ohashi, H.
;
Zabel, B.
;
Munnich, A.
;
Gecz, J.
;
Mulley, 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.
2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Kousoulidou, L.
;
Parkel, S.
;
Zilina, O.
;
Palta, P.
;
Puusepp, H.
;
Remm, M.
;
Turner, G.
;
Boyle, J.
;
van Bokhoven, H.
;
de Brouwer, A.
;
Van Esch, H.
;
Froyen, G.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
Kurg, A.
;
Patsalis, P.
2008
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation
Turner, G.
;
Boyle, J.
;
Partington, M.
;
Kerr, B.
;
Raymond, F.
;
Gecz, J.
2003
Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Baumstark, A.
;
Lower, K.
;
Sinkus, A.
;
Andriuskeveviciute, I.
;
Jurkeniene, L.
;
Gecz, J.
;
Just, W.
Discover
Author
3
Partington, M.
3
Turner, G.
2
Boyle, J.
2
Gedeon, A.
2
Kerr, B.
2
Mulley, J.
2
Tiller, G.
1
Ades, L.
1
Andriuskeveviciute, I.
1
Aranda, B.
.
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Subject
11
Humans
8
Female
7
Mutation
7
Pedigree
5
Molecular Sequence Data
5
X Chromosome
4
Adult
4
Base Sequence
4
Intellectual Disability
4
Phenotype
.
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