Výsledky vyhledávání

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

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https://hdl.handle.net/10067/1686320151162165141

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Diagnostic implications of genetic copy number variation in epilepsy plus

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

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Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic paren

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 .

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https://vbn.aau.dk/da/publications/d7f53f5a-61f3-4171-8bba-7303765ff77c

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Akademický článek

The reference limits and cut-off value for serum soluble transferrin receptors for diagnosing iron deficiency in infants.

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.

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Akademický článek

Is the International League Against Epilepsy classification of epileptic syndromes applicable to children in Estonia?

Autor: Beilmann, A., Talvik, T.

Publikováno v: In European Journal of Paediatric Neurology 1999 3(6):265-272

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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

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

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

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https://hal.sorbonne-universite.fr/hal-01302596/document

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Akademický článek

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Psychiatric events in epilepsy

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec8c658af1f7e60f3574db900704bff4
https://doi.org/10.1016/j.seizure.2007.04.006

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The Phenotypic Spectrum Associated with Gabrb3 Mutations:From Febrile Seizures to Severe Epileptic Encephalopathies

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

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Targeted Next Generation Sequencing as a Diagnostic Tool in 163 Patients with Epileptic Encephalopathies

Publikováno v: Dahl, H A, Larsen, L H G, Olofsson, K, Miranda, M, Nielsen, J E K, Lavard, L, Linnet, K, Uldall, P, Talvik, T, Talvik, I, Frangu, M, Born, P, Gellert, P, Nikanorova, M, Jepsen, B, Marjanovic, D, Kragh-Olsen, B, Mosbech, M B, Hao, Q, Brusgaard, K, Hjalgrim, H & Moller, R S 2015, ' Targeted Next Generation Sequencing as a Diagnostic Tool in 163 Patients with Epileptic Encephalopathies ', Epilepsia, vol. 56, no. S1, p0263, pp. 72-73 . < https://doi.org/10.1111/epi.13241 >
University of Southern Denmark

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https://portal.findresearcher.sdu.dk/da/publications/fe7dd843-13fe-4a4d-a127-07c984619947

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