30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case

por Do Cao, J., Wiedemann, A., Quinaux, T., Battaglia-Hsu, S.F., Mainard, L., Froissart, R., Bonnemains, C., Ragot, S., Leheup, B., Journeau, P., Feillet, F.
Publicado 2016

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

por Nava, C, Lamari, F, Héron, D, Mignot, C, Rastetter, A, Keren, B, Cohen, D, Faudet, A, Bouteiller, D, Gilleron, M, Jacquette, A, Whalen, S, Afenjar, A, Périsse, D, Laurent, C, Dupuits, C, Gautier, C, Gérard, M, Huguet, G, Caillet, S, Leheup, B, Leboyer, M, Gillberg, C, Delorme, R, Bourgeron, T, Brice, A, Depienne, C
Publicado 2012

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

por Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., Moustafa, J. S. El-Sayed, Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioshi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Deixheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.
Publicado 2010