Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Autor: Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium

Publikováno v: Biological Psychiatry, 85(4), 287-297. ELSEVIER SCIENCE INC
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.

Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517869385daa59216cda03fc628eb520
http://hdl.handle.net/1887/122773

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

Autor: Vandeweyer, G., Helsmoortel, C., Dijck, A. Van, Silfhout, A.T. van, Coe, B.P., Bernier, R., Gerdts, J., Rooms, L., Ende, J. van den, Bakshi, M., Wilson, M., Nordgren, A., Hendon, L.G., Abdulrahman, O.A., Romano, C, Vries, B. de, Kleefstra, T., Eichler, E.E., Aa, N. van der, Kooy, R.F.

Publikováno v: American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 166, 315-26
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 166, 3, pp. 315-26

Contains fulltext : 137084.pdf (Publisher’s version ) (Closed access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f74f8deb72cb4d785c2fc7579376a08
https://hdl.handle.net/2066/137084

Associations between (Compulsive) internet use, personality and well-being in adolescence

Autor: Aa, N. van der, Overbeek, G.J., Meerkerk, G.J., Eijnden, R.J.J.M. van den

Publikováno v: Psychology & Health, 21, 155-155
Psychology & Health, 21, 1, pp. 155-155

Item does not contain fulltext 1 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9ccaebf93e2ae7ed21d0bd973fa04d9d
http://hdl.handle.net/2066/124212