Zobrazeno 1 - 10
of 304
pro vyhledávání: '"Talvik, T"'
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
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
Autor:
Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.
Publikováno v:
Epilepsia
Summary Objective Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7bdb393e6939254f9400f7305e012582
http://hdl.handle.net/11567/1021944
http://hdl.handle.net/11567/1021944
Autor:
Coppola, A1, 2, 3, Cellini, E4, Stamberger, H5, 6, 7, Saarentaus, E8, 9, 10, Cetica, V4, Lal, D10, 11, 12, Djémié, T5, 6, Bartnik-Glaska, M13, Ceulemans, B14, Cross, JH15, 16, 17, Deconinck, T5, De Masi S7, Dorn, T18, Guerrini, R, Hoffman-Zacharska, D14, Kooy, F19, Lagae, L20, Lench, N21, Lemke, JR22, Lucenteforte, E23, Madia, F25, Mefford, HC26, Morrogh, D21, Nuernberg, P27, Palotie, A11, Schoonjans, AS15, Striano, P28, Szczepanik, E29, Tostevin, A1, 2, Vermeesch, JR30, Van Esch H30, Van Paesschen W31, Waters, JJ21, Weckhuysen, S5, 6, 12, Zara, F25, De Jonghe P5, Sisodiya, SM1, Marini, C, EuroEPINOMICS-RES, Consortium, Lehesjioki AE, EpiCNV Consortium., Craiu, D, Talvik, T, Caglayan, H, Serratosa, J, Sterbova, K, Møller, Rs, Hjalgrim, H, Lerche, H, Weber, Y, Helbig, I, von Spiczak, S, Barba, C, Bogaerts, A, Boni, A, Galizia, Ec, Chiari, S, Di Gacomo, G, Ferrari, A, Garducci, S, Giglio, S, Holmgren, P, Leu, C, Melani, F, Novara, F, Pantaleo, M, Peeters, E, Pisano, T, Rosati, A, Sander, J, Schoeler, N, Stankiewicz, P, Striano, S, Suls, A, Traverso, M, Vandeweyer, G, Van Dijck, A, Zuffardi, O.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______310::f19bf33fc433d1bda7a5b68d46c573bb
http://hdl.handle.net/2158/1151042
http://hdl.handle.net/2158/1151042
Autor:
Larsen, L.H. G., Hao, Q., Kako, N., Olofsson, K., Miranda, M., Kinali, M., Borggräfe, I., Svaneby, D., Nielsen, J. E. K., Lavard, L., Uldall, P., Talvik, T., Talvik, I., Fusco, C., Spagnoli, C., Frangu, M., Born, P. A., Striano, P., Pal, D., Oates, S., Gellert, P., Nikanorova, M., Petersen, Michael Bjørn, Lautrup, Charlotte Kvist, Brusgaard, K., Dunkhase-Hein, I. U., Rokkjær, M., Bayat, A., Petkov, Y., Børresen, M. L., Jepsen, B., Marjanovic, D., Hjalgrim, H., Dahl, A., Møller, R. S.
Publikováno v:
Larsen, L H G, Hao, Q, Kako, N, Olofsson, K, Miranda, M, Kinali, M, Borggräfe, I, Svaneby, D, Nielsen, J E K, Lavard, L, Uldall, P, Talvik, T, Talvik, I, Fusco, C, Spagnoli, C, Frangu, M, Born, P A, Striano, P, Pal, D, Oates, S, Gellert, P, Nikanorova, M, Petersen, M B, Lautrup, C K, Brusgaard, K, Dunkhase-Hein, I U, Rokkjær, M, Bayat, A, Petkov, Y, Børresen, M L, Jepsen, B, Marjanovic, D, Hjalgrim, H, Dahl, A & Møller, R S 2017, ' Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic paren ', 32nd International Epilepsy Congress, Barcelona, Spain, 02/09/2017-06/09/2017 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::62b2ba0751f2440da1d16371893e9df7
https://vbn.aau.dk/da/publications/d7f53f5a-61f3-4171-8bba-7303765ff77c
https://vbn.aau.dk/da/publications/d7f53f5a-61f3-4171-8bba-7303765ff77c
Autor:
Vendt, N.1 neve.vendt@kliinikum.ee, Talvik, T.1,2, Leedo, S.3, Tomberg, K.4, Kool, P.1, Tillmann, V.1,2, GrÜnberg, H.1,2
Publikováno v:
International Journal of Laboratory Hematology. Aug2009, Vol. 31 Issue 4, p440-446. 7p. 2 Charts, 2 Graphs.
Autor:
Beilmann, A., Talvik, T.
Publikováno v:
In European Journal of Paediatric Neurology 1999 3(6):265-272
Autor:
Mignot, C., von Stulpnage, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Uluc, Yis, Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C., Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hortnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., Craiu, D., De Jonghe, P., Helbig, I., Guerrini, R., Lehesjoki, A. -E., Marini, C., Muhle, H., Moller, R. S., Neubauer, B., Pal, D., Selmer, K., Stephani, U., Sterbova, K., Striano, P., Talvik, T., von Spiczak, S.
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Journal of Medical Genetics, Vol. 53, No 8 (2016) pp. 511-22
Journal of medical genetics
Journal of Medical Genetics, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Mignot, C, von Stülpnagel, C, Nava, C, Ville, D, Sanlaville, D, Lesca, G, Rastetter, A, Gachet, B, Marie, Y, Korenke, G C, Borggraefe, I, Hoffmann-Zacharska, D, Szczepanik, E, Rudzka-Dybała, M, Yiş, U, Çağlayan, H, Isapof, A, Marey, I, Panagiotakaki, E, Korff, C, Rossier, E, Riess, A, Beck-Woedl, S, Rauch, A, Zweier, C, Hoyer, J, Reis, A, Mironov, M, Bobylova, M, Mukhin, K, Hernandez-Hernandez, L, Maher, B, Sisodiya, S, Kuhn, M, Glaeser, D, Wechuysen, S, Myers, C T, Mefford, H C, Hörtnagel, K, Biskup, S, EuroEPINOMICS-RES MAE working group, Lemke, J R, Héron, D, Kluger, G, Depienne, C & Møller, R S 2016, ' Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy ', Journal of Medical Genetics, vol. 53, no. 8, pp. 511-522 . https://doi.org/10.1136/jmedgenet-2015-103451
Journal of Medical Genetics, BMJ Publishing Group, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Journal of Medical Genetics, Vol. 53, No 8 (2016) pp. 511-22
Journal of medical genetics
Journal of Medical Genetics, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Mignot, C, von Stülpnagel, C, Nava, C, Ville, D, Sanlaville, D, Lesca, G, Rastetter, A, Gachet, B, Marie, Y, Korenke, G C, Borggraefe, I, Hoffmann-Zacharska, D, Szczepanik, E, Rudzka-Dybała, M, Yiş, U, Çağlayan, H, Isapof, A, Marey, I, Panagiotakaki, E, Korff, C, Rossier, E, Riess, A, Beck-Woedl, S, Rauch, A, Zweier, C, Hoyer, J, Reis, A, Mironov, M, Bobylova, M, Mukhin, K, Hernandez-Hernandez, L, Maher, B, Sisodiya, S, Kuhn, M, Glaeser, D, Wechuysen, S, Myers, C T, Mefford, H C, Hörtnagel, K, Biskup, S, EuroEPINOMICS-RES MAE working group, Lemke, J R, Héron, D, Kluger, G, Depienne, C & Møller, R S 2016, ' Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy ', Journal of Medical Genetics, vol. 53, no. 8, pp. 511-522 . https://doi.org/10.1136/jmedgenet-2015-103451
Mae Euroepinomics-Res Mae; International audience; Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.Methods We sequenced the exome or screened the e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949a01bb4b58b9b19d544b8f2f805793
https://hal.sorbonne-universite.fr/hal-01302596/document
https://hal.sorbonne-universite.fr/hal-01302596/document
Akademický článek
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Autor:
Cornaggia, Cesare Maria, Beghi, Massimiliano, Beghi, Ettore, Cornaggia, C. M., Airoldi, L., Beghi, M., Bogliun, G., Brambilla, E., Fiordelli, E., Mascarini, A., Moltrasio, L., Primati, C., Hauser, W. A., Loeber, J. N., De Boer, H., Thorbecke, R., Steuernagel, E., Wolf, P., Sonnen, A. E. H., Severi, S., Zolo, P., Specchio, L. M., Specchio, N., Pasolini, M. P., Antonini, L., Aguglia, U., Russo, C., Gambardella, A., Giubergia, S., Zagnoni, P. G., Cosottini, Mirco, Zaccara, G., Trio, R., Pisani, F., Russo, M., Oteri, G., Cavestro, C. E., Tonini, C., Avanzini, G., Arienti, F., Defanti, C. A., Tartara, A., Manni, R., Castelnuovo, G., Murelli, R., Galimberti, C. A., Zanotta, N., Di Viesti, P., Zarrelli, M., Apollo, F., Runge, U., de Krom, M. C. T. F. M., van Heijden, C., Griet, J., Brown, S. W., Coyle, H., Lopez Lima, J. M., Beleza, P., Ferreira, E., Talvik, T., Beilmann, A., Belousova, E., Levart, T., Zupancic, N., Gromov, S., Lipatova, L. V., Mikhailov, V.
Publikováno v:
Seizure. 16:586-592
Psychiatric events are thought to be more frequent in people with epileptic seizures than in the general population. However, inter-ictal psychiatric events attributable to epilepsy remain controversial. The aim of the present study was to evaluate t
Autor:
Moller, R. S., Nikanorova, M., Brilstra, E. H., Vaher, U., Talvik, I., Talvik, T., Kluger, G., Lemke, J. R., Myers, C., Larsen, L. H. G., Pendziwiat, M., Mang, Y., van Gassen, K. L., Dahl, H. A., Rubboli, G., Tommerup, N., Helbig, I., Mefford, H. C., Muhle, H.
Publikováno v:
Moller, R S, Nikanorova, M, Brilstra, E H, Vaher, U, Talvik, I, Talvik, T, Kluger, G, Lemke, J R, Myers, C, Larsen, L H G, Pendziwiat, M, Mang, Y, van Gassen, K L, Dahl, H A, Rubboli, G, Tommerup, N, Helbig, I, Mefford, H C & Muhle, H 2015, ' The Phenotypic Spectrum Associated with Gabrb3 Mutations : From Febrile Seizures to Severe Epileptic Encephalopathies ', Epilepsia, vol. 56, no. S1, 0052, pp. 19 . https://doi.org/10.1111/epi.13241
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3062::77ea8486686dcd8e4e0828dacd8d4ddf
https://portal.findresearcher.sdu.dk/da/publications/4e6c9d25-09b3-445a-96f9-aedfa8ebdc37
https://portal.findresearcher.sdu.dk/da/publications/4e6c9d25-09b3-445a-96f9-aedfa8ebdc37