16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

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

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

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Autor: Delfina M. Romero, Karine Poirier, Richard Belvindrah, Imane Moutkine, Anne Houllier, Anne-Gaëlle LeMoing, Florence Petit, Anne Boland, Stephan C. Collins, Mariano Soiza-Reilly, Binnaz Yalcin, Jamel Chelly, Jean-François Deleuze, Nadia Bahi-Buisson, Fiona Francis

Publikováno v: Nature Communications
Nature Communications, 2022, 13 (1), pp.2746. ⟨10.1038/s41467-022-30443-z⟩
Nature Communications, 2022, 13, ⟨10.1038/s41467-022-30443-z⟩

Subcortical heterotopias are malformations associated with epilepsy and intellectual disability, characterized by the presence of ectopic neurons in the white matter. Mouse and human heterotopia mutations were identified in the microtubule-binding pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1489e404901d251c6495489ea12e4ede
https://doi.org/10.1038/s41467-022-30443-z

Exposure to inorganic particles in paediatric sarcoidosis: the PEDIASARC study

Autor: Véronique Houdouin, Catherine Cavalin, Antoine Deschildre, Jean-Marc Naccache, Catherine Chapelon-Abric, Céline Delestrain, Julien Haroche, Ralph Epaud, Ulrich Meinzer, Simon Chauveau, Fleur Cohen-Aubart, Mickaël Catinon, Florence Jeny, Odile Macchi, Sylvain Le Jeune, Hilario Nunes, Michel Vincent, Paul-André Rosental, Manon Brocvielle, Marie-Hélène Odièvre, Marie-Emeline Montagne, S. Mattioni, Dominique Valeyre, Karine Juvin, Annick Clement, Dominique Israël-Biet, A. Dossier, Nadia Nathan, Jacques Brouard, François Lionnet, Lucile Sesé, Rola Abou Taam, Christophe Delacourt, Marie Mittaine

Publikováno v: Thorax
Thorax, BMJ Publishing Group, 2021, ⟨10.1136/thoraxjnl-2021-217870⟩
Thorax, 2021, ⟨10.1136/thoraxjnl-2021-217870⟩
Thorax, 2021

International audience; Inorganic antigens may contribute to paediatric sarcoidosis. Thirty-six patients matched with 36 healthy controls as well as a group of 21 sickle-cell disease (SCD) controls answered an environmental questionnaire. Patients' i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f06c191771737e835d2a5cd8eb28f64
https://halshs.archives-ouvertes.fr/halshs-03494521

Comparison of Symptom Control in Pediatric Gastroparesis using Endoscopic Pyloric Botulinum Toxin Injection and Dilatation

Autor: Clémence Mercier, Stéphanie Colinet, Madeleine Aumar, Alain Duhamel, Julie Lemale, Frédéric Gottrand, Delphine Ley, Alexandre Fabre

Publikováno v: Journal of Pediatric Gastroenterology and Nutrition
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, Publish Ahead of Print, ⟨10.1097/MPG.0000000000003195⟩
Journal of Pediatric Gastroenterology and Nutrition, 2021, Publish Ahead of Print, ⟨10.1097/MPG.0000000000003195⟩

International audience; Objectives: The objective of this study was to assess the tolerance and efficacy of endoscopic intrapyloric botulinum toxin injection compared with pyloric dilatation in children with gastroparesis.Methods: This was a retrospe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d231fe16aa89ad14275635e9e1c1882
https://hal.sorbonne-universite.fr/hal-03261412/document

Childhood asthma outcomes during the COVID-19 pandemic: Findings from the PeARL multi-national cohort

Autor: Papadopoulos, Nikolaos G., Mathioudakis, Alexander G., Custovic, Adnan, Deschildre, Antoine, Phipatanakul, Wanda, Wong, Gary, Xepapadaki, Paraskevi, Abou‐taam, Rola, Agache, Ioana, Castro‐rodriguez, Jose A., Chen, Zhimin, Cros, Pierrick, Dubus, Jean‐christophe, El‐sayed, Zeinab Awad, El‐owaidy, Rasha, Feleszko, Wojciech, Fierro, Vincenzo, Fiocchi, Alessandro, Garcia‐marcos, Luis, Goh, Anne, Hossny, Elham M., Huerta Villalobos, Yunuen R., Jartti, Tuomas, Le Roux, Pascal, Levina, Julia, López García, Aida Inés, Ramos, Ángel Mazón, Morais‐almeida, Mário, Murray, Clare, Nagaraju, Karthik, Nagaraju, Major K., Navarrete Rodriguez, Elsy Maureen, Namazova‐baranova, Leyla, Nieto Garcia, Antonio, Pozo Beltrán, Cesar Fireth, Ratchataswan, Thanaporn, Rivero Yeverino, Daniela, Rodríguez Zagal, Eréndira, Schweitzer, Cyril E., Tulkki, Marleena, Wasilczuk, Katarzyna, Xu, Dan, Alekseeva, Anna, Almeida, Bethan, Andre, Maud, Arimova, Polina, Blonde, Aurore, Cunningham, Amparito, Da Mota, Sofia, Efendieva, Kamilla, Kalugina, Vera, Kiefer, Sébastien, Klein, Anais, López, Chrystopherson Gengyny Caballero, López, Juan Jesús Ríos, Moratellti, Caroline, Fuentes Pérez, Miguel, Simermann, Meryl, Tapia, José Sergio Papaqui, Tatopoulos, Aurelie, Vishneva, Elena, Volkov, Κonstantin, Bacharier, Leonard, Bonini, Matteo, Craig, Timothy, Diamant, Zuzana, Ducharme, Francine M, Gern, James E., Grigg, Jonathan, Hamelmann, Eckard H, Hedlin, Gunilla, Kalayci, Omer, Kaplan, Alan, Konradsen, Jon, Kuna, Piotr, Lau, Susanne, Le Souef, Peter, Lemanske, Robert F, Makela, Mika J, Matricardi, Paolo M, Gómez, René‐maximiliano, Miligkos, Michael, Pitrez, Paulo Mc, Price, David, Pohunek, Petr, Roberts, Graham C, Sheikh, Aziz, Tsiligianni, Ioanna, Turner, Steve, Valiulis, Arunas, Winders, Tonya, Yusuf, Osman M, Zar, Heather

Publikováno v: Papadopoulos, N G, Mathioudakis, A G, Custovic, A, Deschildre, A, Phipatanakul, W, Wong, G, Xepapadaki, P, Abou-taam, R, Agache, I, Castro-rodriguez, J A, Chen, Z, Cros, P, Dubus, J, El-sayed, Z A, El-owaidy, R, Feleszko, W, Fierro, V, Fiocchi, A, Garcia-marcos, L, Goh, A, Hossny, E M, Huerta Villalobos, Y R, Jartti, T, Le Roux, P, Levina, J, López García, A I, Ramos, Á M, Morais-almeida, M, Murray, C, Nagaraju, K, Nagaraju, M K, Navarrete Rodriguez, E M, Namazova-baranova, L, Nieto Garcia, A, Pozo Beltrán, C F, Ratchataswan, T, Rivero Yeverino, D, Rodríguez Zagal, E, Schweitzer, C E, Tulkki, M, Wasilczuk, K, Xu, D, Alekseeva, A, Almeida, B, Andre, M, Arimova, P, Blonde, A, Cunningham, A, Da Mota, S, Efendieva, K, Kalugina, V, Kiefer, S, Klein, A, López, C G C, López, J J R, Moratellti, C, Fuentes Pérez, M, Simermann, M, Tapia, J S P, Tatopoulos, A, Vishneva, E, Volkov, Κ, Bacharier, L, Bonini, M, Craig, T, Diamant, Z, Ducharme, F M, Gern, J E, Grigg, J, Hamelmann, E H, Hedlin, G, Jartti, T, Kalayci, O, Kaplan, A, Konradsen, J, Kuna, P, Lau, S, Le Souef, P, Lemanske, R F, Makela, M J, Matricardi, P M, Gómez, R, Miligkos, M, Pitrez, P M, Price, D, Pohunek, P, Roberts, G C, Sheikh, A, Tsiligianni, I, Turner, S, Valiulis, A, Winders, T, Yusuf, O M & Zar, H 2021, ' Childhood asthma outcomes during the COVID-19 pandemic: Findings from the PeARL multi-national cohort ', Allergy . https://doi.org/10.1111/all.14787
Allergy, Hoboken : John Wiley and Sons Inc, 2021, vol. 76, iss. 6, p. 1765-1775
Allergy
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Allergy, 2021, 76 (6), pp.1765-1775. ⟨10.1111/all.14787⟩

Background The interplay between COVID‐19 pandemic and asthma in children is still unclear. We evaluated the impact of COVID‐19 pandemic on childhood asthma outcomes. Methods The PeARL multinational cohort included 1,054 children with asthma and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c1759801c82ba54b9e773ff224c217
http://hdl.handle.net/10044/1/86246