Gel-like behaviour of polybutadiene/carbon black mixtures: n.m.r. and swelling properties von Cohen Addad, J.P., Frébourg, P.

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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... von Le Meur, N, Holder-Espinasse, M, Jaillard, S, Goldenberg, A, Joriot, S, Amati-Bonneau, P, Guichet, A, Barth, M, Charollais, A, Journel, H, Auvin, S, Boucher, C, Kerckaert, J-P, David, V, Manouvrier-Hanu, S, Saugier-Veber, P, Frébourg, T, Dubourg, C, Andrieux, J, Bonneau, D

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Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort von Lavoine, N, Colas, C, Muleris, M, Bodo, S, Duval, A, Entz-Werle, N, Coulet, F, Cabaret, O, Andreiuolo, F, Charpy, C, Sebille, G, Wang, Q, Lejeune, S, Buisine, M P, Leroux, D, Couillault, G, Leverger, G, Fricker, J P, Guimbaud, R, Mathieu-Dramard, M, Jedraszak, G, Cohen-Hagenauer, O, Guerrini-Rousseau, L, Bourdeaut, F, Grill, J, Caron, O, Baert-Dusermont, S, Tinat, J, Bougeard, G, Frébourg, T, Brugières, L

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GluD1, linked to schizophrenia, controls the burst firing of dopamine neurons von Benamer, N, Marti, F, Lujan, R, Hepp, R, Aubier, T G, Dupin, A A M, Frébourg, G, Pons, S, Maskos, U, Faure, P, Hay, Y A, Lambolez, B, Tricoire, L

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Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families von Bougeard, G, Sesboüé, R, Baert-Desurmont, S, Vasseur, S, Martin, C, Tinat, J, Brugières, L, Chompret, A, Paillerets, B Bressac-de, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Frébourg, T

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Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene von Bonnet, C, Krieger, S, Vezain, M, Rousselin, A, Tournier, I, Martins, A, Berthet, P, Chevrier, A, Dugast, C, Layet, V, Rossi, A, Lidereau, R, Frébourg, T, Hardouin, A, Tosi, M

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification von NICOLAS, Gaël, POTTIER, Cyril, MARTINAUD, Olivier, DEFEBVRE, Luc, KRYSTKOWIAK, Pierre, PARIENTE, Jérémie, CLANET, Michel, LABAUGE, Pierre, AYRIGNAC, Xavier, LEFAUCHEUR, Romain, LE BER, Isabelle, FREBOURG, Thierry, MALTETE, David, HANNEQUIN, Didier, CAMPION, Dominique, COUTANT, Sophie, ROVELET-LECRUX, Anne, LEGALLIC, Solenn, ROUSSEAU, Stéphane, VASCHALDE, Yvan, GUYANT-MARECHAL, Lucie, AUGUSTIN, Jérôme

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Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood von Tabori, Uri, Hansford, Jordan R, Achatz, Maria Isabel, Kratz, Christian P, Plon, Sharon E, Frebourg, Thierry, Brugières, Laurence

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Prédisposition héréditaire au cancer colorectal et inactivation de la fonction de réparation des mésappariements de l'ADN von Olschwang, S., Eisinger, F.

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Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes von Frebourg, Thierry, Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D Gareth

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Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood von Achatz, Maria Isabel, Porter, Christopher C, Brugières, Laurence, Druker, Harriet, Frebourg, Thierry, Foulkes, William D, Kratz, Christian P, Kuiper, Roland P, Hansford, Jordan R, Hernandez, Hector Salvador, Nathanson, Katherine L, Kohlmann, Wendy K, Doros, Leslie, Onel, Kenan, Schneider, Kami Wolfe, Scollon, Sarah R, Tabori, Uri, Tomlinson, Gail E, Evans, D Gareth R, Plon, Sharon E

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Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy von Di Fiore, F, Blanchard, F, Charbonnier, F, Le Pessot, F, Lamy, A, Galais, M P, Bastit, L, Killian, A, Sesboüé, R, Tuech, J J, Queuniet, A M, Paillot, B, Sabourin, J C, Michot, F, Michel, P, Frebourg, T

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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome von Kratz, Christian P, Achatz, Maria Isabel, Brugières, Laurence, Frebourg, Thierry, Garber, Judy E, Greer, Mary-Louise C, Hansford, Jordan R, Janeway, Katherine A, Kohlmann, Wendy K, McGee, Rose, Mullighan, Charles G, Onel, Kenan, Pajtler, Kristian W, Pfister, Stefan M, Savage, Sharon A, Schiffman, Joshua D, Schneider, Katherine A, Strong, Louise C, Evans, D Gareth R, Wasserman, Jonathan D, Villani, Anita, Malkin, David

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Detection and prognostic value of recurrent exportin 1 mutations in tumor and cell-free circulating DNA of patients with classical Hodgkin lymphoma von Camus, Vincent, Stamatoullas, Aspasia, Mareschal, Sylvain, Viailly, Pierre-Julien, Sarafan-Vasseur, Nasrin, Bohers, Elodie, Dubois, Sydney, Picquenot, Jean Michel, Ruminy, Philippe, Maingonnat, Catherine, Bertrand, Philippe, Cornic, Marie, Tallon-Simon, Valérie, Becker, Stéphanie, Veresezan, Liana, Frebourg, Thierry, Vera, Pierre, Bastard, Christian, Tilly, Hervé, Jardin, Fabrice

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Significant contribution of germline BRCA2 rearrangements in male breast cancer families von TOURNIER, Isabelle, BRESSAC-DE PAILLERETS, Brigitte, LORTHOLARY, Alain, CHAPPUIS, Pierre, BOURDON, Violaine, BONADONA, Valérie, MAUGARD, Christine, GILBERT, Brigitte, NOGUES, Catherine, FREBOURG, Thierry, TOSI, Mario, SOBOL, Hagay, STOPPA-LYONNET, Dominique, LIDEREAU, Rosette, BARROIS, Michel, MAZOYER, Sylvie, COULET, Florence, HARDOUIN, Agnès, CHOMPRET, Agnès

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A cryopyrin-associated periodic syndrome with joint destruction von Lequerré, T., Vittecoq, O., Saugier-Veber, P., Goldenberg, A., Patoz, P., Frébourg, T., Le Loët, X.

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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease von Pottier, C, Hannequin, D, Coutant, S, Rovelet-Lecrux, A, Wallon, D, Rousseau, S, Legallic, S, Paquet, C, Bombois, S, Pariente, J, Thomas-Anterion, C, Michon, A, Croisile, B, Etcharry-Bouyx, F, Berr, C, Dartigues, J-F, Amouyel, P, Dauchel, H, Boutoleau-Bretonnière, C, Thauvin, C, Frebourg, T, Lambert, J-C, Campion, D

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The contribution of germline rearrangements to the spectrum of BRCA2 mutations von Casilli, F, Tournier, I, Sinilnikova, O M, Coulet, F, Soubrier, F, Houdayer, C, Hardouin, A, Berthet, P, Sobol, H, Bourdon, V, Muller, D, Fricker, J P, Capoulade-Metay, C, Chompret, A, Nogues, C, Mazoyer, S, Chappuis, P, Maillet, P, Philippe, C, Lortholary, A, Gesta, P, Bézieau, S, Toulas, C, Gladieff, L, Maugard, C M, Provencher, D M, Dugast, C, Delvincourt, C, Nguyen, T D, Faivre, L, Bonadona, V, Frébourg, T, Lidereau, R, Stoppa-Lyonnet, D, Tosi, M

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Soft tissue and visceral sarcomas: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up von Gronchi, A., Miah, A.B., Dei Tos, A.P., Abecassis, N., Bajpai, J., Bauer, S., Biagini, R., Bielack, S., Blay, J.Y., Bolle, S., Bonvalot, S., Boukovinas, I., Bovee, J.V.M.G., Boye, K., Brennan, B., Brodowicz, T., Buonadonna, A., De Álava, E., Del Muro, X.G., Dufresne, A., Eriksson, M., Fagioli, F., Fedenko, A., Ferraresi, V., Ferrari, A., Frezza, A.M., Gasperoni, S., Gelderblom, H., Gouin, F., Grignani, G., Haas, R., Hassan, A.B., Hecker-Nolting, S., Hindi, N., Hohenberger, P., Joensuu, H., Jones, R.L., Jungels, C., Jutte, P., Kager, L., Kasper, B., Kawai, A., Kopeckova, K., Krákorová, D.A., Le Cesne, A., Le Grange, F., Legius, E., Leithner, A., Lopez-Pousa, A., Martin-Broto, J., Merimsky, O., Messiou, C., Mir, O., Montemurro, M., Morland, B., Morosi, C., Palmerini, E., Pantaleo, M.A., Piana, R., Piperno-Neumann, S., Reichardt, P., Rutkowski, P., Safwat, A.A., Sangalli, C., Sbaraglia, M., Scheipl, S., Schöffski, P., Sleijfer, S., Strauss, D., Strauss, S., Sundby Hall, K., Trama, A., Unk, M., van de Sande, M.A.J., van der Graaf, W.T.A., van Houdt, W.J., Frebourg, T., Casali, P.G., Stacchiotti, S.

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Hyperprolinemia is a risk factor for schizoaffective disorder von Jacquet, H, Demily, C, Houy, E, Hecketsweiler, B, Bou, J, Raux, G, Lerond, J, Allio, G, Haouzir, S, Tillaux, A, Bellegou, C, Fouldrin, G, Delamillieure, P, Ménard, J F, Dollfus, S, D'Amato, T, Petit, M, Thibaut, F, Frébourg, T, Campion, D

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