Incidentalomes surrénaliens : analyse de 43 observations von Archambeaud Mouveroux, F., Bessalem, V., Teissier, M.P., Galinat, S., Béroud, V., Benat, V., Gaillard, S.

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Diabète, diplopie et paralysie faciale von Venat, L, Mitrea, L, Allot, V, Beroud, V, Devilleger, G, Venot, J, Terlaud, C

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Les hyperthyroïdies paradoxales: à propos de cinq observations von Barat, M., Teissier, M.P., Béroud, V., Lassandre, S., Galinat, S., Archambeaud-Mouveroux, F.

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Les métastases intrathyroïdiennes: à propos de cinq observations von Barat, M, Navarre-Colmet-Daage, L, Béroud, V, Teissier, M.P., Ramboamarotafika, A, Valleix, B, Mathonnet, M, Labrousse, F, Archambeaud-Mouveroux, F, Laubie, B

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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease von Mortreux, J, Bacquet, J, Boyer, A, Alazard, E, Bellance, R, Giguet-Valard, A G, Cerino, M, Krahn, M, Audic, F, Chabrol, B, Laugel, V, Desvignes, J P, Béroud, C, Nguyen, K, Verschueren, A, Lévy, N, Attarian, S, Delague, V, Missirian, C, Bonello-Palot, N

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Intérêt du test au Synacthène ® 1 mg dans l'exploration de la fonction corticotrope. Résultats préliminaires von Benat, V., Beroud, V., Galinat, S., Teissier, M.P., Bessalem, V., Archambeaud-Mouveroux, F.

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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations von Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns

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Le phéochromocyome de la neurofibromatose de type 1 von de Vençay, P, Navarre, L, Geffray, I, Teissier, MP, Lassandre, S, Beroud, V, Boncur, MP, Archambeaud-Mouveroux, F

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343P DPYD gene sequencing and in silico functionality prediction of polymorphisms in 3,471 colorectal cancer patients treated with fluoropyrimidine (FP) von Etienne-Grimaldi, M-C., Boyer, J-C.C., Menoret, E., Desvignes, J-P., Boige, V., Taieb, J., Laurent-Puig, P., Wettergren, Y.A., Schwab, M., Ackland, S.P., Jennings, B., Seutin, E., Rousset, J., Le Teuff, G., Cozic, N., Koudou, Y., Béroud, C.

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Les lymphomes primitifs de la thyroïde: à propos de six cas von Barat, M., Ducloux, T., Beroud, V., Sol, C., Lassandre, S., Petit, B., Jaccard, A., Labrousse, F., Bordessoule, D., Archambeaud-Mouveroux, F.

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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database von Koeks, Zaïda, Bladen, Catherine L., Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I., Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J., Lochmüller, Hanns

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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia von Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C., Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de la caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly, Flanigan, Kevin M., Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, Lochmüller, Hanns

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Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe von Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, Lochmüller, Hanns

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RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange von Roos, A, Beltran, S, Piscia, D, Laurie, S, Protasio, J, Cañada, A, Fernández, J, Kaliyaperumal, R, Lair, S, Sernadela, P, Girdea, M, Thompson, R, Straub, V, Roos, M, T'Hoen, P, Valencia, A, Salgado, D, Béroud, C, Gut, I, Lochmüller, H

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Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay von Krahn, M, Pécheux, C, Chapon, F, Béroud, C, Drouin-Garraud, V, Laforet, P, Romero, NB, Penisson-Besnier, I, Bernard, R, Urtizberea, JA, Leturcq, F, Lévy, N

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T.P.3.05 TREAT-NMD global patients’ registries: A unified global source of information about patients with neuromuscular diseases von Humbertclaude, V, Tuffery-Giraud, S, Hamroun, D, Desmet, F.O, Baumeister, S, Lalande, M, Collod-Béroud, G, Lochmüller, H, Claustres, M, Béroud, C

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P.242 - RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange von Roos, A., Beltran, S., Piscia, D., Laurie, S., Protasio, J., Cañada, A., Fernández, J., Kaliyaperumal, R., Lair, S., Sernadela, P., Girdea, M., Thompson, R., Straub, V., Roos, M., T'Hoen, P., Valencia, A., Salgado, D., Béroud, C., Gut, I., Lochmüller, H.

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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability von Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L

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Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines von Humbertclaude, M, Tuffery-Giraud, Sylvie, Bareil, C., Thèze, C., Paulet, P, Desmet, D, Hamroun, D., Baux, David, Girardet, G, Collod-Béroud, Gwenaëlle, Khau van Kien, P., Roux, A.-F., Des Georges, M., Béroud, Christophe, Claustres, M.

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P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders von Cossée, M, Bartoli, M, Allamand, V, Guittard, C, Delague, V, Krahn, M, Ledeuil, C, Marey, I, Nelson, I, Richard, P, Bourgeois, P, Bonne, G, Leturcq, F, Voit, T, Béroud, C, Chelly, J, Lévy, N

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