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Results: 1-7 |
Results: 7
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
Authors: Zemni, R Bienvenu, T Vinet, MC Sefiani, A Carrie, A Billuart, P McDonell, N Couvert, P Francis, F Chafey, P Fauchereau, F Friocourt, G des Portes, V Cardona, A Frints, S Meindl, A Brandau, O Ronce, N Moraine, C van Bokhoven, H Ropers, HH Sudbrak, R Kahn, A Fryns, JP Beldjord, R Chelly, J
Citation: R. Zemni et al., A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation, NAT GENET, 24(2), 2000, pp. 167-170
MECP2 mutations account for most cases of typical forms of Rett syndrome
Authors: Bienvenu, T Carrie, A de Roux, N Vinet, MC Jonveaux, P Couvert, P Villard, L Arzimanoglou, A Beldjord, C Fontes, M Tardieu, M Chelly, J
Citation: T. Bienvenu et al., MECP2 mutations account for most cases of typical forms of Rett syndrome, HUM MOL GEN, 9(9), 2000, pp. 1377-1384
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia
Authors: McDonell, N Ramser, J Francis, F Vinet, MC Rider, S Sudbrak, R Riesselman, L Yaspo, ML Reinhardt, R Monaco, AP Ross, F Kahn, A Kearney, L Buckle, V Chelly, J
Citation: N. Mcdonell et al., Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia, GENOMICS, 64(3), 2000, pp. 221-229
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation
Authors: Billuart, P Chelly, J Carrie, A Vinet, MC Couvert, P McDonell, N Zemni, R Kahn, A Moraine, C Beldjord, C Bienvenu, T
Citation: P. Billuart et al., Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation, ANN GENET, 43(1), 2000, pp. 5-9
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
Authors: Carrie, A Jun, L Bienvenu, T Vinet, MC McDonell, N Couvert, P Zemni, R Cardona, A Van Buggenhout, G Frints, S Hamel, B Moraine, C Ropers, HH Strom, T Howell, GR Whittaker, A Ross, MT Kahn, A Fryns, JP Beldjord, C Marynen, P Chelly, J
Citation: A. Carrie et al., A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation, NAT GENET, 23(1), 1999, pp. 25-31
Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
Authors: Francis, F Koulakoff, A Boucher, D Chafey, P Schaar, B Vinet, MC Friocourt, G McDonnell, N Reiner, O Kahn, A McConnell, SK Berwald-Netter, Y Denoulet, P Chelly, J
Citation: F. Francis et al., Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons, NEURON, 23(2), 1999, pp. 247-256
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.
Authors: Billuart, P Bienvenu, T Ronce, N Des Portes, V Vinet, MC Zemni, R Carrie, A Beldjord, C Kahn, A Moraine, C Chelly, J
Citation: P. Billuart et al., Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation., PATH BIOL, 46(9), 1998, pp. 678-678
Risultati: 1-7 |