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Results:
1-15
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Results: 15
Authors:
Hillman, MA
Gecz, J
Citation: Ma. Hillman et J. Gecz, Fragile XE-associated familial mental retardation protein 2 (FMR2) acts asa potent transcription activator, J HUM GENET, 46(5), 2001, pp. 251-259
Authors:
Lower, KM
Gecz, J
Citation: Km. Lower et J. Gecz, 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, AM J MED G, 100(1), 2001, pp. 43-48
Authors:
Gedeon, AK
Tiller, GE
Le Merrer, M
Heuertz, S
Tranebjaerg, L
Chitayat, D
Robertson, S
Glass, IA
Savarirayan, R
Cole, WG
Rimoin, DL
Kousseff, BG
Ohashi, H
Zabel, B
Munnich, A
Gecz, J
Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Authors:
Tiller, GE
Hannig, VL
Dozier, D
Carrel, L
Trevarthen, KC
Wilcox, WR
Mundlos, S
Haines, JL
Gedeon, AK
Gecz, J
Citation: Ge. Tiller et al., A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1398-1407
Authors:
Gecz, J
Mulley, J
Citation: J. Gecz et J. Mulley, Genes for cognitive function: Developments on the X, GENOME RES, 10(2), 2000, pp. 157-163
Authors:
Gecz, J
Hillman, MA
Gedeon, AK
Cox, TC
Baker, E
Mulley, JC
Citation: J. Gecz et al., Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda, GENOMICS, 69(2), 2000, pp. 242-251
Authors:
Villard, L
Fontes, M
Ades, LC
Gecz, J
Citation: L. Villard et al., Identification of a mutation in the XNP/ATR-X gene in a family reported asSmith-Fineman-Myers syndrome, AM J MED G, 91(1), 2000, pp. 83-85
Authors:
Gecz, J
Citation: J. Gecz, FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations, J MED GENET, 37(10), 2000, pp. 782-784
Authors:
Gecz, J
Citation: J. Gecz, The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects, ANN HUM GEN, 64, 2000, pp. 95-106
Authors:
Gedeon, AK
Colley, A
Jamieson, R
Thompson, EM
Rogers, J
Sillence, D
Tiller, GE
Mulley, JC
Gecz, J
Citation: Ak. Gedeon et al., Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda, NAT GENET, 22(4), 1999, pp. 400-404
Authors:
Merienne, K
Jacquot, S
Pannetier, S
Zeniou, M
Bankier, A
Gecz, J
Mandel, JL
Mulley, J
Sassone-Corsi, P
Hanauer, A
Citation: K. Merienne et al., A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation, NAT GENET, 22(1), 1999, pp. 13-14
Authors:
Gecz, J
Mulley, JC
Citation: J. Gecz et Jc. Mulley, Characterisation and expression of a large, 13.7 kb FMR2 isoform., EUR J HUM G, 7(2), 1999, pp. 157-162
Authors:
Gecz, J
Barnett, S
Liu, JJ
Hollway, G
Donnelly, A
Eyre, H
Eshkevari, HS
Baltazar, R
Grunn, A
Nagaraja, R
Gilliam, C
Peltonen, L
Sutherland, GR
Baron, M
Mulley, JC
Citation: J. Gecz et al., Characterization of the human glutamate receptor subunit 3 gene (GRIA3), acandidate for bipolar disorder and nonspecific X-linked mental retardation, GENOMICS, 62(3), 1999, pp. 356-368
Authors:
Gecz, J
Baker, E
Donnelly, A
Ming, JE
McDonald-McGinn, DM
Spinner, NB
Zackai, EH
Sutherland, GR
Mulley, JC
Citation: J. Gecz et al., Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient, HUM GENET, 104(1), 1999, pp. 56-63
Authors:
Villard, L
Briault, S
Lossi, AM
Paringaux, C
Belougne, J
Colleaux, L
Pincus, DR
Woollatt, E
Lespinasse, J
Munnich, A
Moraine, C
Fontes, H
Gecz, J
Citation: L. Villard et al., Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1, J MED GENET, 36(10), 1999, pp. 754-758
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