- Tytuł:
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
- Autorzy:
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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-HauguelJ ; 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.
CoursimaultJ ; 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. - Pokaż więcej
- Corporate Authors:
-
Xtraordinaire; Xtraordinaire Association, Paris, France.
GENIDA Project; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France. - Źródło:
- Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Attention Deficit Disorder with Hyperactivity*/genetics
Attention Deficit Disorder with Hyperactivity*/therapy
Caregivers*
Child, Preschool ; Humans ; DEAD-box RNA Helicases ; Self Report ; Infant
Czasopismo naukowe