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

Volltext

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.

Volltext

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

Volltext

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.

Volltext

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

Volltext

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

Volltext

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

Volltext

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome von Faivre, L, Gorlin, R J, Wirtz, M K, Godfrey, M, Dagoneau, N, Samples, J R, Le Merrer, M, Collod-Beroud, G, Boileau, C, Munnich, A, Cormier-Daire, V

Volltext

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement von Danielsson, Annika, Carecchio, Miryam, Cif, Laura, Koy, Anne, Lin, Jean-Pierre, Solders, Göran, Romito, Luigi, Lohmann, Katja, Garavaglia, Barbara, Reale, Chiara, Zorzi, Giovanna, Nardocci, Nardo, Coubes, Philippe, Gonzalez, Victoria, Roubertie, Agathe, Collod-Beroud, Gwenaelle, Lind, Göran, Tedroff, Kristina

Volltext

P.34 - Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties von Guillet-Pichon, V., Leturcq, F., Claeys, K., Beroud, C., Nadaj-Pakleza, A.

Volltext

Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties von Guillet-Pichon, V., Leturcq, F., Claeys, K., Beroud, C., Nadaj-Pakleza, A.

Volltext

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

Volltext

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

Volltext

Identification of a hypotensive and bradycardic peptide from Black Mamba snake venom von Bon-Baret, V., Burban, M., Ciolek, J., Servent, D., Ferron, M., Stura, E., Jacquillard, L., Beroud, R., Rozec, B., Gauthier, C., Lauzier, B., Gilles, N., De Waard, M.

Volltext

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

Volltext

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

Volltext

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.

Volltext

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias von Le Goff, C, Mahaut, C, Wang, L W, Allali, S, Abhyankar, A, Jensen, S, Zylberberg, L, Collod-Beroud, G, Bonnet, D, Alanay, Y, Brady, A F, Cordier, M P, Devriendt, K, Genevieve, D, Kiper, P Ö S, Kitoh, H, Krakow, D, Lynch, S A, Le Merrer, M, Mégarbane, A, Mortier, G, Odent, S, Polak, M, Rohrbach, M, Sillence, D, Stolte-Dijkstra, I, Superti-Furga, A, Rimoin, D L, Topouchian, V, Unger, S, Zabel, B, Bole-Feysot, C, Nitschke, P, Handford, P, Casanova, J L, Boileau, C, Apte, S S, Munnich, A, Cormier-Daire, V

Volltext

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? von Frédéric, M. Y., Clot, F., Cif, L., Blanchard, A., Dürr, A., Vuillaume, I., Lesca, G., Kreisler, A., Davin, C., Besnard, T., Rousset, F., Thorel, D., Saquet, C., Mechin, D., Ozelius, L., Agid, Y., Barroso, B., Chabrol, B., Chan, V., Clanet, M., Coubes, C., Destee, A., Nguyen, K., Vial, C., Vidailhet, M., Xie, J., Sablonniere, B., Calender, A., Brice, A., Roubertie, A., Coubes, P., Claustres, M., Tuffery-Giraud, S., Collod-Beroud, G.

Volltext

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

Volltext