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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Autor: Di Fede E., Massa V., Augello B., Squeo G., Scarano E., Perri A. M., Fischetto R., Causio F. A., Zampino G., Piccione M., Curridori E., Mazza T., Castellana S., Larizza L., Ghelma F., Colombo E. A., Gandini M. C., Castori M., Merla G., Milani D., Gervasini C.

Publikováno v: European Journal of Human Genetics

Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Stei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f65e265aadd74d740a532c54887c6a9a
http://hdl.handle.net/10807/166644

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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

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

Autor: Calzari L, Barcella M, Alari V, Braga D, Munoz-Viana R, Barlassina C, Finelli P, Gervasini C, Barco A, Russo S, Larizza L

Publikováno v: MOLECULAR NEUROBIOLOGY
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname

Rubinstein-Taybi syndrome (RSTS) is a rare multisystem developmental disorder with moderate to severe intellectual disability caused by heterozygous mutations of eitherCREBBPorEP300genes encoding CBP/p300 chromatin regulators. We explored the gene pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c08e2b6a8b5572f4d58566b37115f872
https://fundanet.isabial.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8737