Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France by Laurier, V., Lapeyrade, A., Copet, P., Demeer, G., Silvie, M., Bieth, E., Coupaye, M., Poitou, C., Lorenzini, F., Labrousse, F., Molinas, C., Tauber, M., Thuilleaux, D., Jauregi, J.

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Medical, psychological and social features in a large cohort of adults with P rader– W illi syndrome: experience from a dedicated centre in France by Laurier, V., Lapeyrade, A., Copet, P., Demeer, G., Silvie, M., Bieth, E., Coupaye, M., Poitou, C., Lorenzini, F., Labrousse, F., Molinas, C., Tauber, M., Thuilleaux, D., Jauregi, J.

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French database of children and adolescents with Prader-Willi syndrome by Molinas, Catherine, Cazals, Laurent, Diene, Gwenaelle, Glattard, Melanie, Arnaud, Catherine, Tauber, Maithe

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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis by Lefebvre, M., Duffourd, Y., Jouan, T., Poe, C., Jean‐Marçais, N., Verloes, A., St‐Onge, J., Riviere, J.‐B., Petit, F., Pierquin, G., Demeer, B., Callier, P., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.

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Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families by Tusseau, M., Eyries, M., Chatron, N., Coulet, F., Guichet, A., Colin, E., Demeer, B., Maillard, H., Thevenon, J., Lavigne, C., Saillour, V., Paris, C., De Sainte Agathe, J.M., Pujalte, M., Guilhem, A., Dupuis-Girod, S., Lesca, G.

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder by Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Royer, Erin, Leeuwen, Lisette, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tiller, George E., Bosch, Daniëlle G.M., Potgieter, Stephanus T., Joss, Shelagh, Splitt, Miranda, Holden, Simon, Prapa, Matina, Foulds, Nicola, Waltes, Regina, Chiocchetti, Andreas G., Freitag, Christine M., De Rubeis, Silvia, Buxbaum, Joseph, Gelb, Bruce D., Branko, Aleksic, Kushima, Itaru, Howe, Jennifer, Scherer, Stephen W., Arado, Alessia, Baldo, Chiara, Patat, Olivier, Bénédicte, Demeer, Lopergolo, Diego, Santorelli, Filippo M., Dufke, Andreas, Falb, Ruth J., Rieß, Angelika, Krieg, Peter, Spranger, Stephanie, Iascone, Maria, Josephi-Taylor, Sarah, Roscioli, Tony, Buckley, Michael F., Liebelt, Jan, Dagli, Aditi I., Aten, Emmelien, Hurst, Anna C.E., Suri, Mohnish, Aliu, Ermal, Naik, Sunil, Coursimault, Juliette, Nicolas, Gaël, Küpper, Hanna, Ibrahim, Veyan, Top, Deniz, Di Cara, Francesca, Louie, Raymond J., Stolerman, Elliot, Brunner, Han G., Vissers, Lisenka E.L.M., Kramer, Jamie M., Kleefstra, Tjitske

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Deleterious mutations in one third of non-syndromic discontinuous cleft lip and palate patients by Demeer, Bénédicte, Revencu, N., Helaers, R., Gbaguidi, C., Dakpé, Stéphanie, Francois, G., Devauchelle, Bernard, Bayet, B., Vikkula, M.

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Whole exome sequencing identifies mutations in 10% of familial non-syndromic cleft lip and/or palate patients in genes mutated in well-known syndromes by Basha, M., Demeer, Bénédicte, Revencu, N., Theys, S., Saba, S. Bou, Boute, O., Devauchelle, Bernard, Francois, G., Bayet, B., Vikkula, M.

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Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations by Van-Gils, J., Naudion, S., Toutain, J., Lancelot, G., Attie-Bitach, T., Blesson, S., Demeer, Bénédicte, Doray, B., Gonzales, M., Martinovic, J., Whalen, S., Arveiler, B., Fergelot, P., Lacombe, D.

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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes by Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C.

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Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque by Vabres, P., Sorlin, A., Kholmanskikh, S.S., Demeer, B., St-Onge, J., Duffourd, Y., Kuentz, P., Courcet, J.-B., Carmignac, V., Bessis, D., Boute, O., Bron, A., Captier, G., Carmi, E., Devauchelle, B., Geneviève, D., Gondry, C., Guibaud, L., Lafon, A., Thevenon, J., Bernard, G., Dobyns, W.B., Faivre, L., Ross, M.E., Rivière, J.-B.

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Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque by Vabres, P., Sorlin, A., Kholmanskikh, S.S., Demeer, B., St Onge, J., Duffourd, Y., Kuentz, P., Courcet, J.-B., Carmignac, V., Bessis, D., Boute, O., Bron, Alain M., Captier, G., Carmi, E., Devauchelle, Bernard, Geneviève, D., Gondry, C., Guibaud, L., Lafon, A., Thevenon, J., Bernard, G., Dobyns, W.B., Faivre, L., Ross, M.E., Riviere, J.-B.

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CL028 - Syndrome H : une génodermatose méconnue caractérisée par des lésions hyperpigmentées et une atteinte multisystémique by Morin, G., Djeddi, D., Braun, K., Barois-Guilliot, J., Tellai, L., Lajarrige, C., Demeer, B., Bony, H., Boudailliez, B., Zlotogorski, A., Mathieu, M.

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P273 - Intérêt de l’exsanguino-transfusion dans l’hémochromatose néonatale by Barois-Guilliot, J., Morin, G., Djeddi, D., Leke, A., Guigonis, V., Cordonnier, C., Demeer, B., Lavallard, M., Fabre, M., Muller, F., Boutignon, H., Gondry, J., Mathieu, M.

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WINcell platform - A Pervasive Communication Environment for Nomadic Workers by deMeer, J., Spichal, G.

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Cooperative QoS management for multimedia applications by Fischer, S., Hafid, A., Bochmann, G., De Meer, H.

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