Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Tanja Obermeier"'
Autor:
Heather C Mefford, Andre Franke, Hiltrud Muhle, Ingo Helbig, Johanna A. Jähn, Sarah von Spiczak, Tanja Obermeier, Ulrich Stephani
Publikováno v:
Epilepsy Research. 108:109-116
Microdeletions at 15q11.2, 15q13.3 and 16p13.11 are known genetic risk factors for idiopathic generalized epilepsies and other neurodevelopmental disorders. The full phenotypic range of this microdeletion triad in pediatric epilepsies is unknown. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2708819c3ccbe154e1a98840732c4919
https://doi.org/10.1016/j.eplepsyres.2013.10.001
https://doi.org/10.1016/j.eplepsyres.2013.10.001
Publikováno v:
Zeitschrift für Orthopädie und Unfallchirurgie. 154:430-431
Seit April 2016 wird das Junge Forum O&U gemeinsam von DGOU (Deutsche Gesellschaft fur Orthopadie und Unfallchirurgie) und BVOU (Berufsverband fur Orthopadie und Unfallchirurgie) unterstutzt. Das ubergeordnete Ziel ist es, sich zukunftig gemeinsam fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3eb8a6c268da8073ecd33d799bf90be2
https://doi.org/10.1055/s-0042-113654
https://doi.org/10.1055/s-0042-113654
Autor:
Tanja Obermeier, Thomas Sander, Ingo Helbig, Heather C Mefford, Sarah von Spiczak, Hiltrud Muhle, Ulrich Stephani, Evan E. Eichler
Publikováno v:
Epilepsia
Summary 15q13.3 microdeletions are the most common genetic findings identified in idiopathic generalized epilepsies to date, and they are present in up to 1% of patients. In addition, 15q13.3 microdeletions have been described in patients with epilep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e7f13f1e0ddbd6f94b4c8b787a675d6
https://doi.org/10.1111/j.1528-1167.2011.03301.x
https://doi.org/10.1111/j.1528-1167.2011.03301.x
Autor:
Dick Lindhout, Sarah von Spiczak, Heather C Mefford, Ina Maria Rückert, Martha Feucht, Lydia Urak, Christian Kluck, Peter De Jonghe, Hajo M. Hamer, Fritz Zimprich, Tanja Obermeier, Marielle E M Swinkels, Arvid Suls, Evan E. Eichler, Ingo Helbig, Ailing A. Kleefuß-Lie, Felix Rosenow, Carolien G.F. de Kovel, Ulrich Stephani, Heinz Erich Wichmann, Michael Steffens, Kerstin Hallmann, Stefan Schreiber, Thomas Sander, Helle Hjalgrim, Karoline Fuchs, Bobby P. C. Koeleman, Christian E. Elger, Holger Trucks, Karl Martin Klein, Eva H. Brilstra, Andre Franke, Dorothée G.A. Kasteleijn-Nolst Trenité, Yvonne G. Weber, Costin Leu, Hiltrud Muhle, Verena Gaus, Iris Unterberger, Rikke S. Møller, Peter Nürnberg, Carl Baker, Holger Lerche, Philipp Ostertag
Publikováno v:
Brain
de Kovel, C G F, Trucks, H, Helbig, I, Mefford, H C, Baker, C, Leu, C, Kluck, C, Muhle, H, von Spiczak, S, Ostertag, P, Obermeier, T, Kleefuss-Lie, A A, Hallmann, K, Steffens, M, Gaus, V, Klein, K M, Hamer, H M, Rosenow, F, Brilstra, E H, Trenité, D K-N, Swinkels, M E M, Weber, Y G, Unterberger, I, Zimprich, F, Urak, L, Feucht, M, Fuchs, K, Møller, R S, Hjalgrim, H, De Jonghe, P, Suls, A, Rückert, I-M, Wichmann, H-E, Franke, A, Schreiber, S, Nürnberg, P, Elger, C E, Lerche, H, Stephani, U, Koeleman, B P C, Lindhout, D, Eichler, E E & Sander, T 2010, ' Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies ', Brain, vol. 133, no. 1, pp. 23-32 . https://doi.org/10.1093/brain/awp262
de Kovel, C G F, Trucks, H, Helbig, I, Mefford, H C, Baker, C, Leu, C, Kluck, C, Muhle, H, von Spiczak, S, Ostertag, P, Obermeier, T, Kleefuss-Lie, A A, Hallmann, K, Steffens, M, Gaus, V, Klein, K M, Hamer, H M, Rosenow, F, Brilstra, E H, Trenité, D K-N, Swinkels, M E M, Weber, Y G, Unterberger, I, Zimprich, F, Urak, L, Feucht, M, Fuchs, K, Møller, R S, Hjalgrim, H, De Jonghe, P, Suls, A, Rückert, I-M, Wichmann, H-E, Franke, A, Schreiber, S, Nürnberg, P, Elger, C E, Lerche, H, Stephani, U, Koeleman, B P C, Lindhout, D, Eichler, E E & Sander, T 2010, ' Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies ', Brain, vol. 133, no. 1, pp. 23-32 . https://doi.org/10.1093/brain/awp262
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e59e1afc2171326635e392e5ac108310
https://hdl.handle.net/10067/805340151162165141
https://hdl.handle.net/10067/805340151162165141
Autor:
Rainer Boor, Ingo Helbig, Andre Franke, S. von Spiczak, Stefan Schreiber, Hiltrud Muhle, Yvonne G. Weber, Bernd A. Neubauer, Tanja Obermeier, U. Stephani, Holger Lerche
Publikováno v:
Neuropediatrics. 39
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::447186eeba6d99b282307aa9424f4568
https://doi.org/10.1055/s-0029-1215827
https://doi.org/10.1055/s-0029-1215827