Development, behaviour and autism in individuals with SMC1A variants

Autor: Mulder, P.A., Huisman, S., Landlust, A.M., Moss, J., Bader, I., Balkom, I.D.C. van, Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hennekam, R.C., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Lessel, D., Michot, C., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Piening, S., Puisac, B., Ramos, F.J., Redeker, E., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Vries, I.M., Wenger, T.L., Wierzba, J., SMC1A Consortium

Publikováno v: SMC1A Consortium 2019, ' Development, behaviour and autism in individuals with SMC1A variants ', Journal of Child Psychology and Psychiatry and Allied Disciplines, vol. 60, no. 3, pp. 305-313 . https://doi.org/10.1111/jcpp.12979
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 3, pp. 305-313
Journal of Child Psychology and Psychiatry, 60(3), 305-313. Wiley
Journal of Child Psychology and Psychiatry, 60(3), 305-313. Wiley-Blackwell Publishing Ltd
Journal of Child Psychology and Psychiatry, 60(3), 305-313. WILEY
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60(3), 305-313. Wiley-Blackwell
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 305-313
Journal of child psychology and psychiatry, and allied disciplines, 60(3), 305-313. Wiley-Blackwell
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60(3), 305. Wiley-Blackwell

Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41be5a1901aac8685a934d8c694a75b2
https://doi.org/10.1111/jcpp.12979

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Autor: Schönewolf-Greulich, B. Bisgaard, A.-M. Dunø, M. Jespersgaard, C. Rokkjær, M. Hansen, L.K. Tsoutsou, E. Sofokleous, C. Topcu, M. Kaur, S. Van Bergen, N.J. Brøndum-Nielsen, K. Larsen, M.J. Sørensen, K.P. Christodoulou, J. Fagerberg, C.R. Tümer, Z.

Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::196b0af2ac27b7f4e343d5823bff6f9f
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078316

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Immunogenic characterization of two functional subdomains of Streptococcus mutans glucosyltransferase-I

Autor: Jespersgaard, C.

Publikováno v: Jespersgaard, C 2001, Immunogenic characterization of two functional subdomains of Streptococcus mutans glucosyltransferase-I . Det sundhedsvidenskabelige Fakultet, Aarhus Universitet .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::b6b1c4599c46513487ee66d718476ea0
https://pure.au.dk/portal/da/publications/immunogenic-characterization-of-two-functional-subdomains-of-streptococcus-mutans-glucosyltransferasei(b2771aa0-d5c3-11da-bee9-02004c4f4f50).html