Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Xtraordinaire Association"'
Autor:
David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests that careg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70
https://doi.org/10.21203/rs.3.rs-2760508/v1
https://doi.org/10.21203/rs.3.rs-2760508/v1
Autor:
Renaud Touraine, Damien Sanlaville, M. Till, Anne Reboul, Jian Kong, Randy L. Gollub, Annick Toutain, Nouchine Hadjikhani, Daniel Ott, S. Marignier, Lydie Merle, Karine Delange, Albert David, Yves Paulignan, Isabelle Mortemousque, Behrouz Kassai, Sandra Mercier, Gérald Bussy, Tatjana A. Nazir, Anne Cheylus, Eric Bieth, Vincent des Portes, Bénédicte de Fréminville, Aurore Curie, Jamel Chelly, Fabienne Prieur, Amandine Brun
Publikováno v:
PLoS ONE
PLoS ONE, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
PLoS ONE, Vol 11, Iss 2, p e0149717 (2016)
PLoS ONE, Public Library of Science, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
PLoS ONE, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
PLoS ONE, Vol 11, Iss 2, p e0149717 (2016)
PLoS ONE, Public Library of Science, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
International audience; BackgroundIntellectual Disability (ID) is characterized by deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, and learning. As new avenues are emerging for treatment o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61be6a5096a64609cbfed59cd8bd3b1
https://doi.org/10.1371/journal.pone.0149717
https://doi.org/10.1371/journal.pone.0149717
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Autor:
Ruault V; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Burger P; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France., Gradels-Hauguel J; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France., Ruiz N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France., Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Alessandri JL; CHU La Réunion, Service de génétique, Saint Denis, France., Arpin S; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Bendová Š; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Charles P; APHP La Pitié Salpétrière, Paris, France., Chatron N; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France., Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetic Department, Harvard Medical School, Boston, Massachusetts, USA., Conrad S; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Daire VC; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Cospain A; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France., Coubes C; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.; Genetic Department, Inserm 1141 NeuroDiderot, Paris, France., Doco M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France., Dufour W; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France., Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Engel C; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France., Faivre L; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Ferroul F; CHU La Réunion, Service de génétique, Saint Denis, France., Fradin M; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.; CH Saint Brieuc, Service de Génétique, Saint Brieux, France., Frenkiel H; Xtraordinaire Association, Paris, France., Fusco C; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Garde A; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Gerard B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Germanaud D; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France., Goujon L; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France., Gouronc A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Ginglinger E; Génétique médicale GHRMSA, Hopital Emile Muller, Mulhouse, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Havlovicová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Heron D; APHP Trousseau, Paris, France., Isidor B; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Marçais NJ; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France., Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France., Koch-Hogrebe M; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Kuentz P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France., Lamure V; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France., Lebre AS; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.; Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, Paris, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Lehman N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France., Lyonnet S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Laboratoire Embryologie et Génétique des Malformations, Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Martin D; Xtraordinaire Association, Paris, France., Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France., Neuhann TM; Genetic Department, Medizinisch Genetisches Zentrum, Munich, Germany., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Nizon M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Petit F; Genetic Department, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Piton A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Pollazzon M; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Prchalová D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Putoux A; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Rossi M; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Sabbagh Q; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France., Schmetz A; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Steffann J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Toutain A; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France., Them FTM; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Trimarchi G; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Vincent M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France., Vlčková M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Willems M; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Yauy K; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France., Zelinová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Ziegler A; Genetic Department, Service de Génétique, CHU d'Angers, Angers Cedex 9, France., Chaumette B; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, Université Paris Cité, INSERM U1266, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Mandel JL; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Genetic Department, University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France., Geneviève D; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.