Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

von Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, M, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I
Veröffentlicht 2012

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

von Bijlsma, E.K., Collins, A., Papa, F.T., Tejada, M.I., Wheeler, P., Peeters, E.A.J., Gijsbers, A.C.J., van de Kamp, J.M., Kriek, M., Losekoot, M., Broekma, A.J., Crolla, J.A., Pollazzon, M., Mucciolo, M., Katzaki, E., Disciglio, V., Ferreri, M.I., Marozza, A., Mencarelli, M.A., Castagnini, C., Dosa, L., Ariani, F., Mari, F., Canitano, R., Hayek, G., Botella, M.P., Gener, B., Mínguez, M., Renieri, A., Ruivenkamp, C.A.L.
Veröffentlicht 2012