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Results: 1-25 | 26-36
Results: 1-25/36
Monogenic causes of X-linked mental retardation
Authors: Chelly, J Mandel, JL
Citation: J. Chelly et Jl. Mandel, Monogenic causes of X-linked mental retardation, NAT REV GEN, 2(9), 2001, pp. 669-680
Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system
Authors: Friocourt, G Chafey, P Billuart, P Koulakoff, A Vine, MC Schaar, BT McConnell, SK Francis, F Chelly, J
Citation: G. Friocourt et al., Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system, MOL CELL NE, 18(3), 2001, pp. 307-319
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
Authors: Vourc'h, P Bienvenu, T Beldjord, C Chelly, J Barthelemy, C Muh, JP Andres, C
Citation: P. Vourc'H et al., No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients, EUR J HUM G, 9(7), 2001, pp. 556-558
Parental origin of de novo MECP2 mutations in Rett syndrome
Authors: Girard, M Couvert, P Carrie, A Tardieu, M Chelly, J Beldjord, C Bienvenu, T
Citation: M. Girard et al., Parental origin of de novo MECP2 mutations in Rett syndrome, EUR J HUM G, 9(3), 2001, pp. 231-236
MECP2 is highly mutated in X-linked mental retardation
Authors: Couvert, P Bienvenu, T Aquaviva, C Poirier, K Moraine, C Gendrot, C Verloes, A Andres, C Le Fevre, AC Souville, I Steffann, J des Portes, V Ropers, HH Yntema, HG Fryns, JP Briault, S Chelly, J Cherif, B
Citation: P. Couvert et al., MECP2 is highly mutated in X-linked mental retardation, HUM MOL GEN, 10(9), 2001, pp. 941-946
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease
Authors: Villard, L Levy, N Xiang, FQ Kpebe, A Labelle, V Chevillard, C Zhang, ZP Schwartz, CE Tardieu, M Chelly, J Anvret, M Fontes, M
Citation: L. Villard et al., Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease, J MED GENET, 38(7), 2001, pp. 435-442
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
Authors: Kutsche, K Yntema, H Brandt, A Jantke, I Nothwang, HG Orth, U Boavida, MG David, D Chelly, J Fryns, JP Moraine, C Ropers, HH Hamel, BCJ van Bokhoven, H Gal, A
Citation: K. Kutsche et al., Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation, NAT GENET, 26(2), 2000, pp. 247-250
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
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28
Authors: Villard, L des Portes, V Levy, N Louboutin, JP Recan, D Coquet, M Chabrol, B Figarella-Branger, D Chelly, J Pellissier, JF Fontes, M
Citation: L. Villard et al., Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28, EUR J HUM G, 8(2), 2000, pp. 125-129
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
Doublecortin mutations cluster in evolutionarily conserved functional domains (vol 9, pg 703, 2000)
Authors: Sapir, T Horesh, D Caspi, M Atlas, R Burgess, HA Wolf, SG Francis, F Chelly, J Elbaum, M Pietrokovski, S Reiner, O
Citation: T. Sapir et al., Doublecortin mutations cluster in evolutionarily conserved functional domains (vol 9, pg 703, 2000), HUM MOL GEN, 9(9), 2000, pp. 1461-1461
Doublecortin mutations cluster in evolutionarily conserved functional domains
Authors: Sapir, T Horesh, D Caspi, M Atlas, R Burgess, HA Wolf, SG Francis, F Chelly, J Elbaum, M Pietrokovski, S Reiner, O
Citation: T. Sapir et al., Doublecortin mutations cluster in evolutionarily conserved functional domains, HUM MOL GEN, 9(5), 2000, pp. 703-712
Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation (vol 8, pg 1833, 1999)
Authors: Chelly, J
Citation: J. Chelly, Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation (vol 8, pg 1833, 1999), HUM MOL GEN, 9(1), 2000, pp. 145-145
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
X-linked mental retardation
Authors: Chelly, J
Citation: J. Chelly, X-linked mental retardation, M S-MED SCI, 16(3), 2000, pp. 363-372
Cosegregation of T108A Elk-1 with mental retardation
Authors: Schroer, A Scheer, MP Zacharias, S Schneider, S Ropers, HH Nothwang, HG Chelly, J Hamel, B Fryns, JP Shaw, P Moraine, C
Citation: A. Schroer et al., Cosegregation of T108A Elk-1 with mental retardation, AM J MED G, 95(4), 2000, pp. 404-405
9th international workshop on fragile X syndrome and X-linked mental retardation
Authors: Fryns, JP Borghgraef, M Brown, TW Chelly, J Fisch, GS Hamel, B Hanauer, A Lacombe, D Luo, L MacPherson, JN Mandel, JL Moraine, C Mulley, J Nelson, D Oostra, B Partington, M Ramakers, GJA Ropers, HH Rousseau, F Schwartz, C Steinbach, P Stoll, C Tranebjaerg, L Turner, G Van Bokhoven, H Vianna-Morgante, A Villard, L Warren, ST
Citation: Jp. Fryns et al., 9th international workshop on fragile X syndrome and X-linked mental retardation, AM J MED G, 94(5), 2000, pp. 345-360
MRX review
Authors: Chelly, J
Citation: J. Chelly, MRX review, AM J MED G, 94(5), 2000, pp. 364-366
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
Authors: Bienvenu, T des Portes, V McDonell, N Carrie, A Zemni, R Couvert, P Ropers, HH Moraine, C van Bokhoven, H Fryns, JP Allen, K Walsh, CA Boue, J Kahn, A Chelly, J Beldjord, C
Citation: T. Bienvenu et al., Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation, AM J MED G, 93(4), 2000, pp. 294-298
X-linked congenital ataxia: A clinical and genetic study
Authors: Bertini, E des Portes, V Zanni, G Santorelli, F Dionisi-Vici, C Vicari, S Fariello, G Chelly, J
Citation: E. Bertini et al., X-linked congenital ataxia: A clinical and genetic study, AM J MED G, 92(1), 2000, pp. 53-56
Two affected boys in a Rett syndrome family - Clinical and molecular findings
Authors: Villard, L Kpebe, A Cardoso, C Chelly, J Tardieu, M Fontes, M
Citation: L. Villard et al., Two affected boys in a Rett syndrome family - Clinical and molecular findings, NEUROLOGY, 55(8), 2000, pp. 1188-1193
Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation
Authors: Portnoi, MF Bouayed-Abdelmoula, N Mirc, M Zemni, R Castaing, H Stephann, J Ardalan, A Vialard, F Nouchy, M Daoud, P Chelly, J Taillemite, JL
Citation: Mf. Portnoi et al., Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation, CLIN GENET, 58(2), 2000, pp. 116-122
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
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
Authors: Tentler, D Gustavsson, P Leisti, J Schueler, M Chelly, J Timonen, E Anneren, G Willard, HF Dahl, N
Citation: D. Tentler et al., Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia, EUR J HUM G, 7(5), 1999, pp. 541-548
Risultati: 1-25 | 26-36