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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Autor: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.

Publikováno v: Genome medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Genome Medicine
Lal, D, May, P, Perez-Palma, E, Samocha, K E, Kosmicki, J A, Robinson, E B, Møller, R S, Krause, R, Nürnberg, P, Weckhuysen, S, De Jonghe, P, Guerrini, R, Niestroj, L M, Du, J, Marini, C, Ware, J S, Kurki, M, Gormley, P, Tang, S, Wu, S, Biskup, S, Poduri, A, Neubauer, B A, Koeleman, B P C, Helbig, K L, Weber, Y G, Helbig, I, Majithia, A R, Palotie, A, Daly, M J & EuroEPINOMICS RES Consortium 2020, ' Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders ', Genome Medicine, vol. 12, 28 . https://doi.org/10.1186/s13073-020-00725-6

Background Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly em

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b036557331bdae2c9f0cad2faa39ec2d
https://hdl.handle.net/10067/1686320151162165141

Clinical indications for image guided interventional procedures in the musculoskeletal system: a Delphi-based consensus paper from the European Society of Musculoskeletal Radiology (ESSR)—part III, nerves of the upper limb

Autor: Sconfienza, L.M. Adriaensen, M. Albano, D. Allen, G. Aparisi Gómez, M.P. Bazzocchi, A. Beggs, I. Bignotti, B. Chianca, V. Corazza, A. Dalili, D. De Dea, M. del Cura, J.L. Di Pietto, F. Drakonaki, E. Facal de Castro, F. Filippiadis, D. Gielen, J. Gitto, S. Gupta, H. Klauser, A.S. Lalam, R. Martin, S. Martinoli, C. Mauri, G. McCarthy, C. McNally, E. Melaki, K. Messina, C. Mirón Mombiela, R. Neubauer, B. Obradov, M. Olchowy, C. Orlandi, D. Gonzalez, R.P. Rutkauskas, S. Snoj, Z. Tagliafico, A.S. Talaska, A. Vasilevska-Nikodinovska, V. Vucetic, J. Wilson, D. Zaottini, F. Zappia, M. Plagou, A. on behalf of the Ultrasound Interventional Subcommittees of the European Society of Musculoskeletal Radiology (ESSR)

Background: Image-guided interventional procedures of the nerves are commonly performed by physicians from different medical specialties, although there is a lack of clinical indications for these types of procedures. This Delphi-based consensus prov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::34f9d175e864cc2ccf8f0c8f9e6b47c7
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3121354

De novo variants in neurodevelopmental disorders with epilepsy

Autor: Heyne, H. O., Singh, T., Stamberger, H., Abou Jamra, R., Caglayan, H., Craiu, D., De Jonghe, P., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T., May, P., Muhle, H., Moller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., Tang, S., Wu, S., Afawi, Z., De Kovel, C., Dimova, P., Djemie, T., Endziniene, M., Hoffman-Zacharska, D., Jahn, J., Korff, C., Lehesjoki, A. -E., Marini, C., Muller, S. H., Pal, D., Schwarz, N., Selmer, K., Serratosa, J., Stephani, U., Sterbova, K., Suls, A., Syrbe, S., Talvik, I., Von Spiczak, S., Zara, F., Poduri, A., Weber, Y. G., Weckhuysen, S., Sisodiya, S. M., Daly, M. J., Helbig, I., Lal, D., Lemke, J. R.

Publikováno v: bioRxiv. Cold Spring Harbor Labs Journals (2017).
Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel, C, Dimova, P, Djémié, T, Endziniene, M, Hoffman-Zacharska, D, Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D, Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M, Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7
Nature genetics
Nature Genetics

Epilepsy is a frequent feature of neurodevelopmental disorders (NDD) but little is known about genetic differences between NDD with and without epilepsy. We analyzed de novo variants (DNV) in 6753 parent-offspring trios ascertained for different NDD.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2198bc79a3e84e4458a790d2407b6e37
https://doi.org/10.1038/s41588-018-0143-7

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