Les nouvelles techniques de génétique moléculaire vont-elles révolutionner la psychiatrie ? von Edery, P

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Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome von Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., Rossi, M., Till, M., Mougou-Zerelli, S., Edery, P., Saad, A., Heron, D., des Portes, V., Sanlaville, D., Lesca, G.

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Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives von Houdayer, F., Putois, O., Babonneau, M.L., Chaumet, H., Joly, L., Juif, C., Michon, C.C., Staraci, S., Cretin, E., Delanoue, S., Charron, P., Chassagne, A., Edery, P., Gautier, E., Lapointe, A.S., Thauvin-Robinet, C., Sanlaville, D., Gargiulo, M., Faivre, L.

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Genetic bases of craniosynostoses: An update von Armand, T., Schaefer, E., Di Rocco, F., Edery, P., Collet, C., Rossi, M.

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A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease von Chatron, N., Lesca, G., Labalme, A., Rollat‐Farnier, P.A., Monin, P., Pichot, E., Edery, P., Sanlaville, D., Rossi, M.

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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome von Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A.D.C., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., de Die-Smulders, C.E., Gardeitchik, T., van Putten, W.K., Perez, M.J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., Edery, P.

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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families von Willems, M, Geneviève, D, Borck, G, Baumann, C, Baujat, G, Bieth, E, Edery, P, Farra, C, Gerard, M, Héron, D, Leheup, B, Le Merrer, M, Lyonnet, S, Martin-Coignard, D, Mathieu, M, Thauvin-Robinet, C, Verloes, A, Colleaux, L, Munnich, A, Cormier-Daire, V

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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech von Bonnet, C, Andrieux, J, Béri-Dexheimer, M, Leheup, B, Boute, O, Manouvrier, S, Delobel, B, Copin, H, Receveur, A, Mathieu, M, Thiriez, G, Le Caignec, C, David, A, de Blois, M C, Malan, V, Philippe, A, Cormier-Daire, V, Colleaux, L, Flori, E, Dollfus, H, Pelletier, V, Thauvin-Robinet, C, Masurel-Paulet, A, Faivre, L, Tardieu, M, Bahi-Buisson, N, Callier, P, Mugneret, F, Edery, P, Jonveaux, P, Sanlaville, D

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Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history von Nguyen, K., Putoux, A., Busa, T., Cordier, M.P., Sigaudy, S., Till, M., Chabrol, B., Michel-Calemard, L., Bernard, R., Julia, S., Malzac, P., Labalme, A., Missirian, C., Edery, P., Popovici, C., Philip, N., Sanlaville, D.

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Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome von Demily, C, Rossi, M, Schneider, M, Edery, P, Leleu, A, d'Amato, T, Franck, N, Eliez, S

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Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism von Faoucher, M, Putoux, A, Francannet, C, Poulat, A.L, Chatron, N, Aquaviva, C, Labalme, A, Schluth-Bolard, C, Till, M, Saban, C, Desportes, V, Sanlaville, D, Edery, P, Lesca, G

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Next-generation sequencing (NGS) is a powerful tool to improve diagnostic yield in intellectual disability von Labalme, A, Chatron, N, Till, M, Cordier, M.P, Rossi, M, Putoux, A, Pons, L, des Portes, V, Edery, P, Sanlaville, D, Lesca, G

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Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2 von Chatron, N, Møller, R.S, Champaigne, N.L, Kuechler, A, Labalme, A, Baggett, L, Wieczorek, D, Portes, V. des, Edery, P, Gardella, E, Scheffer, I.E, Mefford, H, Sanlaville, D, Carvill, G.L, Lesca, G

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Mapping of chromosomal balanced rearrangements by whole-genome sequencing identifies genes involved in epilepsy von Masson, J, Diguet, F, Rollat-Farnier, P.A, Mazoyer, S, Lesca, G, Kremer, V, Flori, E, Portnoï, M.F, Siffroi, J.P, Valence, S, Till, M, Edery, P, Sanlaville, D, Schluth-Bolard, C

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Spectrum of NSD1 mutations in Sotos and Weaver syndromes von Rio, M, Clech, L, Amiel, J, Faivre, L, Lyonnet, S, Le Merrer, M, Odent, S, Lacombe, D, Edery, P, Brauner, R, Raoul, O, Gosset, P, Prieur, M, Vekemans, M, Munnich, A, Colleaux, L, Cormier-Daire, V

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Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders von Poisson, A, Nicolas, A, Sanlaville, D, Cochat, P, De Leersnyder, H, Rigard, C, Franco, P, des Portes, V, Edery, P, Demily, C

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations von Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S.A., Jagadeesh, S., Kayserili, H., Keng, W.T., Lev, D., Prada, C.E., Sampson, J.R., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J.M., Verheij, J.B., Vikkula, M., Hennekam, R.C.

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Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital von Pons, L., Till, M., Alix, E., Abel, C., Boggio, D., Bordes, A., Caloone, J., Raskin, F.C., Chatron, N., Cordier, M.-P., Fichez, A., Labalme, A., Lajeunesse, C., Liaras, É., Massoud, M., Miribel, J., Ollagnon, E., Schluth-Bolard, C., Vichier-Cerf, A., Edery, P., Attia, J., Huissoud, C., Rudigoz, R.C., Massardier, J., Gaucherand, P., Sanlaville, D.

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Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays von Pasquier, L, Laugel, V, Lazaro, L, Dollfus, H, Journel, H, Edery, P, Goldenberg, A, Martin, D, Heron, D, Le Merrer, M, Rustin, P, Odent, S, Munnich, A, Sarasin, A, Cormier-Daire, V

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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome von Bubien, Virginie, Bonnet, Françoise, Brouste, Veronique, Hoppe, Stéphanie, Barouk-Simonet, Emmanuelle, David, Albert, Edery, Patrick, Bottani, Armand, Layet, Valérie, Caron, Olivier, Gilbert-Dussardier, Brigitte, Delnatte, Capucine, Dugast, Catherine, Fricker, Jean-Pierre, Bonneau, Dominique, Sevenet, Nicolas, Longy, Michel, Caux, Frédéric, Abramowicz, Marc, Bessis, Didier, Bieth, Eric, Bérard, Valérie Bonadonaon, Bonnetblanc, Jean-Marie, Demange, Liliane, Feillet, François, Frebourg, Thierry, Giraud, Sophie, Giurgea, Irina, Heron, Delphine, Holder, Muriel, Journel, Hubert, Julia, Sophie, Kacem, Maha, Lejeune, Sophie, Leprat, Frédéric, Leroux, Dominique, Lok, Catherine, Lortholary, Alain, Lyonnet, Stanislas, Margueritte, Geneviève, Mauillon, Jacques, Mazereeuw-Hautier, Juliette, Odent, Sylvie, Penet, Clotilde, Philippe, Anne, Plauchu, Henri, Plessismenceau, Ghislaine, Plouvieron, Emmanuel, Richard, Marie-Aleth, Saadi, Abdelkrim, Saurin, Jean-Christophe, Tinat, Julie, Vabres, Pierre, Van Maldergemteil, Lionel, Vennin, Philippe, Weiller, Pierre-Jean

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