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Results:
1-24
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Results: 24
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
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
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
Authors:
Moizard, MP
Toutain, A
Fournier, D
Berret, F
Raynaud, M
Billard, C
Andres, C
Moraine, C
Citation: Mp. Moizard et al., Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening, EUR J HUM G, 8(7), 2000, pp. 552-556
Authors:
Raynaud, M
Moizard, MP
Dessay, B
Briault, S
Toutain, A
Gendrot, C
Ronce, N
Moraine, C
Citation: M. Raynaud et al., Systematic analysis of X-inactivation in 19XLMR families: extremely skewedprofiles in carriers in three families, EUR J HUM G, 8(4), 2000, pp. 253-258
Authors:
Perrotin, F
Haddad, G
Guichet, A
Paillet, C
Moraine, C
Body, G
Citation: F. Perrotin et al., Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome, PRENAT DIAG, 20(6), 2000, pp. 501-504
Authors:
Fert-Ferrer, S
Guichet, A
Tantau, J
Delezoide, AL
Ozilou, C
Romana, SP
Gosset, P
Viot, G
Loison, S
Moraine, C
Morichon-Delvallez, N
Turleau, C
Vekemans, M
Prieur, M
Citation: S. Fert-ferrer et al., Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features, PRENAT DIAG, 20(6), 2000, pp. 511-515
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
Authors:
Briault, S
Villard, L
Rogner, U
Coy, J
Odent, S
Lucas, J
Passage, E
Zhu, DP
Shrimpton, A
Pembrey, M
Till, M
Guichet, A
Dessay, S
Fontes, M
Poustka, A
Moraine, C
Citation: S. Briault et al., Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]?, AM J MED G, 95(2), 2000, pp. 178-181
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
Authors:
Lossi, AM
Colleaux, L
Chiaroni, P
Fontes, M
Villard, L
Abidi, F
Schwartz, C
Briault, S
Moraine, C
Citation: Am. Lossi et al., Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families, AM J MED G, 94(5), 2000, pp. 386-388
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
Authors:
Forissier, JF
Richard, P
Briault, S
Ledeuil, C
Dubourg, O
Charbonnier, B
Carrier, L
Moraine, C
Bonne, G
Komajda, M
Schwartz, K
Hainque, B
Citation: Jf. Forissier et al., First description of germline mosaicism in familial hypertrophic cardiomyopathy, J MED GENET, 37(2), 2000, pp. 132-134
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
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
Authors:
Yntema, HG
van den Helm, B
Kissing, J
van Duijnhoven, G
Poppelaars, F
Chelly, J
Moraine, C
Fryns, JP
Hamel, BCJ
Heilbronner, H
Pander, HJ
Brunner, HG
Ropers, HH
Cremers, FPM
van Bokhoven, H
Citation: Hg. Yntema et al., A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation, GENOMICS, 62(3), 1999, pp. 332-343
Authors:
Bonneau, D
Roume, J
Gonzalez, M
Toutain, A
Carles, D
Marechaud, M
Biran-Mucignat, V
Amati, P
Moraine, C
Citation: D. Bonneau et al., Splenogonadal fusion limb defect syndrome: Report of five new cases and review, AM J MED G, 86(4), 1999, pp. 347-358
Authors:
Briault, S
Odent, S
Lucas, J
Le Merrer, M
Turleau, C
Munnich, A
Moraine, C
Citation: S. Briault et al., Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome, AM J MED G, 86(2), 1999, pp. 112-114
Authors:
des Portes, V
Beldjord, C
Chelly, J
Hamel, B
Kremer, H
Smits, A
van Bokhoven, H
Ropers, HH
Claes, S
Fryns, JP
Ronce, N
Gendrot, C
Toutain, A
Raynaud, M
Moraine, C
Citation: V. Des Portes et al., X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium, AM J MED G, 85(3), 1999, pp. 263-265
Authors:
Gendrot, C
Ronce, N
Raynaud, M
Ayrault, AD
Dourlens, J
Castelnau, P
Muh, JP
Chelly, J
Moraine, C
Citation: C. Gendrot et al., X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family, AM J MED G, 83(5), 1999, pp. 411-418
Authors:
Ronce, N
Raynaud, M
Toutain, A
Moizard, MP
Colleaux, L
Gendrot, C
Briault, S
Moraine, C
Citation: N. Ronce et al., Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinicaland molecular data in one family, AM J MED G, 83(2), 1999, pp. 132-137
Authors:
Agulhon, C
Blanchet, P
Kobetz, A
Marchant, D
Faucon, N
Sarda, P
Moraine, C
Sittler, A
Biancalana, V
Malafosse, A
Abitbol, M
Citation: C. Agulhon et al., Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues, J NE EXP NE, 58(8), 1999, pp. 867-880
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
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:
1-24
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