Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis? von Vuillaume, M.‐L., Moizard, M.‐P., Hammouche, E., Delrue, M.‐A., Perrin, L., Maftei, C., Dupont, C., Drunat, S., Cottereau, E., Baumann, C., Toutain, A.

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Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene von Ronce, N, Maystadt, I, Hubert, C, Vonwill, S, Devriendt, K, Moizard, M-P, Raynaud, M

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Phenotype and genotype in females with POU3F4 mutations von Marlin, S, Moizard, MP, David, A, Chaissang, N, Raynaud, M, Jonard, L, Feldmann, D, Loundon, N, Denoyelle, F, Toutain, A

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family von Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C.J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain

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Twenty-five novel mutations including duplications in the ATP7A gene von Moizard, M-P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M

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FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation von Bellan, Cristina, des Portes, Vincent, Lewis, Sarah E, Yntema, Helger G, Muscettola, Maddalena, Fryns, Jean-Pierre, Schaffer, Jean E, Longo, Ilaria, Raynaud, Martine, Moizard, Marie-Pierre, Volpi, Nila, Meloni, Ilaria, Magi, Barbara, Gomot, Marie, Chelly, Jamel, Ropers, Hans-Hilger, Bruttini, Mirella, Renieri, Alessandra

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Twenty‐five novel mutations including duplications in the ATP7A gene von Moizard, M‐P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M

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A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family von Ronce, Nathalie, Moizard, Marie-Pierre, Robb, Laura, Toutain, Annick, Villard, Laurent, Moraine, Claude

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Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening von Moizard, M P, Toutain, A, Fournier, D, Berret, F, Raynaud, M, Billard, C, Andres, C, Moraine, C

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Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene von Ronce, N, Maystadt, I, Hubert, C, Vonwill, S, Devriendt, Koenraad, Moizard, M.-P, Raynaud, M

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Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families von Raynaud, M, Moizard, M P, Dessay, B, Briault, S, Toutain, A, Gendrot, C, Ronce, N, Moraine, C

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes von Hu, H, Haas, S.A, Chelly, J, Van Esch, Hilde, Raynaud, M, de Brouwer, A.P.M, Weinert, S, Froyen, Guy, Frints, S.G.M, Laumonnier, F, Zemojtel, T, Love, M.I, Richard, H, Emde, A.-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M.A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K.L, Belet, S, van Roozendaal, K.E.P, Jimenez-Pocquet, M, Moizard, M.-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L.B, Wieacker, P, Rodríguez Criado, G, Bondeson, M.-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, Jean-Pierre, Devriendt, Koenraad, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T.F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T.J, Chen, W, Ropers, H.-H, Kalscheuer, V.M

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Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? von Moizard, Marie-Pierre, Billard, Catherine, Toutain, Annick, Berret, Françoise, Marmin, Nadine, Moraine, Claude

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes von Hu, H, Haas, SA, Chelly, J, Van Esch, H, Raynaud, M, De Brouwer, APM, Weinert, S, Froyen, G, Frints, SGM, Laumonnier, F, Zemojtel, T, Love, MI, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, MA, Gardner, A, Willis-Owen, S, Tan, C, Friend, KL, Belet, S, Van Roozendaal, KEP, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, Van Boemmel, A, Goeke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Mueller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bielenska, A, Ousager, LB, Wieacker, P, Criado, GR, Bondeson, M-L, Anneren, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, TF, Tzschach, A, Van Bokhoven, H, Gecz, J, Jentsch, TJ, Chen, W, Ropers, H-H, Kalscheuer, VM

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Phenotype and genotype in females with PO U3F4 mutations von MARLIN, S, MOIZARD, M. P, DAVID, A, CHAISSANG, N, RAYNAUD, M, JONARD, L, FELDMANN, D, LOUNDON, N, DENOYELLE, F, TOUTAIN, A

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Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family von Ronce, Nathalie, Raynaud, Martine, Toutain, Annick, Moizard, Marie-Pierre, Colleaux, Laurence, Gendrot, Chantal, Briault, Sylvain, Moraine, Claude

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X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1 von Raynaud, Martine, Gendrot, Chantal, Dessay, Benoit, Moncla, Anne, Ayrault, Anne-Dominique, Moizard, Marie-Pierre, Toutain, Annick, Briault, Sylvain, Villard, Laurent, Ronce, Nathalie, Moraine, Claude

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Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene von Ronce, N, Maystadt, I, Hubert, C, Vonwill, S, Devriendt, K, Moizard, M-P, Raynaud, M

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In-frame deletion in MECP2 causes mild nonspecific mental retardation von Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans, Chelly, Jamel, Kalscheuer, Vera M., Fryns, Jean-Pierre, Raynaud, Martine, Moizard, Marie-Pierre, Moraine, Claude

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TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment von Gomot, Marie, Ronce, Nathalie, Dessay, Sabine, Zemni, Ramzi, Ayrault, Anne‐Dominique, Moizard, Marie‐Pierre, Nivelon, Annie, Gilgenkrantz, Simone, Dourlens, Julliette, Des Portes, Vincent, Chelly, Jamel, Moraine, Claude

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