Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Agnès Ameil"'
Autor:
Edouard Hirsch, Nadia Boutry-Kryza, Afaf Benitto, Sarra Dimassi, Patrick Edery, Agnès Ameil, Gabrielle Rudolf, Nadine Bruneau, Pierre Szepetowski, Jacques Motte, Philippe Ryvlin, Julitta de Bellescize, Robin Cloarec, Anne de Saint Martin, Audrey Labalme, Alexis Arzimanoglou, Gaetan Lesca, Damien Sanlaville
Publikováno v:
Epilepsia. 55:370-378
OBJECTIVES: Rolandic epilepsies (REs) represent the most frequent epilepsy in childhood. Patients may experience cognitive, speech, language, reading, and behavioral issues. The genetic origin of REs has long been debated. The participation of rare c
Autor:
Eva M. Reinthaler, Dennis Lal, Sebastien Lebon, Michael S. Hildebrand, Hans-Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, Georg Winterer, Holger Lerche, Peter Nürnberg, Heather Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, Jacques S. Beckmann, Thomas Sander, Sebastien Jacquemont, Alexandre Reymond, Fritz Zimprich, Bernd A. Neubauer, Bernd Neubauer, Martina Mörzinger, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S Møller, Laura L. Klitten, Helle Hjalgrim, Kiel Campus, Ingo Helbig, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Ulrich Stephani, Holger Trucks, Christian E. Elger, Ailing A. Kleefuß-Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Dieter Janz, Bettina Schmitz, Felix Rosenow, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felicitas Becker, Yvonne Weber, Bobby P.C. Koeleman, Carolien de Kovel, Dick Lindhout, Agnès Ameil, Joris Andrieux, Sonia Bouquillon, Odile Boute, Jeanne de Flandre, Jean Marie Cuisset, Jean-Christophe Cuvellier, Roger Salengro, Albert David, Bert de Vries, Marie-Ange Delrue, Martine Doco-Fenzy, Bridget A. Fernandez, Delphine Heron, Boris Keren, Robert Lebel, Bruno Leheup, Suzanne Lewis, Maria Antonietta Mencarelli, Cyril Mignot, Jean-Claude Minet, Alexandre Moerman, Fanny Morice-Picard, Mafalda Mucciolo, Katrin Ounap, Laurent Pasquier, Florence Petit, Francesca Ragona, Evica Rajcan-Separovic, Alessandra Renieri, Claudine Rieubland, Damien Sanlaville, Elisabeth Sarrazin, Yiping Shen, Mieke van Haelst, Anneke Vulto-van Silfhout
Publikováno v:
16p11.2 European Consortium, EPICURE Consortium, The EuroEPINOMICS Consortium & Møller, R S 2014, ' 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy ', Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080 . https://doi.org/10.1093/hmg/ddu306
Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080
Human molecular genetics, 23(22), 6069-6080. Oxford University Press
Human molecular genetics
Hum. Mol. Genet. 23, 6069-6080 (2014)
HUMAN MOLECULAR GENETICS
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080
Human molecular genetics, 23(22), 6069-6080. Oxford University Press
Human molecular genetics
Hum. Mol. Genet. 23, 6069-6080 (2014)
HUMAN MOLECULAR GENETICS
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::780d31edaa034478bbfc1c48d66221a6
http://hdl.handle.net/11365/975064
http://hdl.handle.net/11365/975064
Autor:
Bruno Leheup, Manon Girard, Caroline Rooryck, Elodie Sanchez, David Geneviève, Anouck Schneider, Marie-Ange Delrue, Azzedine Aboura, Magali Tournaire, Laurence Perrin-Sabourin, Emilie Landais, Michel Goossens, Florence Petit, Pierre Sarda, Camille Leroy, Dominique Gaillard, Philippe Jonveaux, Dorothée Cailley, Jacques Puechberty, Joris Andrieux, Laurence Taine, Agnès Ameil, Martine Doco-Fenzy, Geneviève Lefort
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2013, 22 (4), pp.471-479. ⟨10.1038/ejhg.2013.189⟩
European Journal of Human Genetics, Nature Publishing Group, 2013, 22 (4), pp.471-479. ⟨10.1038/ejhg.2013.189⟩
International audience; Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d9879c209fd468b28e2ad885caaee8
https://hal.univ-lorraine.fr/hal-01688659
https://hal.univ-lorraine.fr/hal-01688659