Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements

Autor: Bak, M., Fonseca, A., Mehrjouy, M., Rasmussen, M., Halgren, C., Bache, I., Kroisel, P., Midyan, S., Vermeesch, J., Vienna-Morgante, A., Abe, K., Moretti-Ferreira, D., Angelova, L., Rajcan-Separovic, E., Sismani, C., Aristidou, C., Sedlacek, Z., Fagerberg, C., Brondum-Nielsen, K., Vogel, I., Bojesen, A., Ounap, K., Roht, L., Lespinasse, J., Beneteau, C., Kalscheuer, V., Ehmke, N., Daumer-Haas, C., Stefanou, E., Czako, M., Sheth, F., Bonaglia, C., Novelli, A., Fannemel, M., Engelen, J., Travessa, A., Kokalj-Vokac, N., Ramos-Arroyo, M., Martinez, L. R., Guitart, M., Schinzel, A., Silan, F., de Almeida, C., Akkari, Y., Batanian, J., Kim, H., Jacky, P., Tommerup, N., Consortium, Int Breakpoint Mapping

Publikováno v: Bak, M, Fonseca, A, Mehrjouy, M, Rasmussen, M, Halgren, C, Bache, I, Kroisel, P, Midyan, S, Vermeesch, J, Vienna-Morgante, A, Abe, K, Moretti-Ferreira, D, Angelova, L, Rajcan-Separovic, E, Sismani, C, Aristidou, C, Sedlacek, Z, Fagerberg, C, Brondum-Nielsen, K, Vogel, I, Bojesen, A, Ounap, K, Roht, L, Lespinasse, J, Beneteau, C, Kalscheuer, V, Ehmke, N, Daumer-Haas, C, Stefanou, E, Czako, M, Sheth, F, Bonaglia, C, Novelli, A, Fannemel, M, Engelen, J, Travessa, A, Kokalj-Vokac, N, Ramos-Arroyo, M, Martinez, L R, Guitart, M, Schinzel, A, Silan, F, de Almeida, C, Akkari, Y, Batanian, J, Kim, H, Jacky, P, Tommerup, N & Consortium, I B M 2019, ' Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements ', European Journal of Human Genetics, vol. 26, pp. 59-60 . https://doi.org/10.1038/s41431-018-0249-5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::075fd0f2c1e5697e2c033e24afc94e89
https://portal.findresearcher.sdu.dk/da/publications/e71d9f5a-8f73-405f-a9e4-7047bea99997

Phelan-McDermid syndrome: Neuropsychological phenotype, cerebellar functioning and treatment selection

Autor: Egger, J.I.M., Verhoeven, W.M.A., Zwanenburg, R.J., Ravenswaaij-Arts, C.M.A. van, Bonaglia, C., Kleefstra, T.

Publikováno v: Journal of the International Neuropsychological Society, 22, 28-29
Journal of the International Neuropsychological Society, 22, 2, pp. 28-29

Item does not contain fulltext Objective: The 22q13.3 deletion syndrome or Phelan-McDermid syndrome is characterized by a variable degree of intellectual disability, impaired speech and language as well as social communicative skills, and mild dysmor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::064c5b5bc92d324e65aa1ac9a19bef1c
http://hdl.handle.net/2066/166251

The same molecular mechanism at the maternal meiosis I procedures mono- and dicentric 8p duplications

Autor: Floridia, G, Piantanida, M, Minelli, A, Dellavecchia, C, Bonaglia, C, Rossi, E, Gimelli, G, Croci, G, Franchi, F, Gilgenkrantz, S, Grammatico, Paola, Dalprà, L.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::a1cd380916459c147e2d1dfe5ec2e697
http://hdl.handle.net/11573/118062

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