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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera, Gabriella; Sorlin, Arthur; Delplancq, Geoffroy; Lecoquierre, François; Brasseur-Daudruy, Marie; Petit, Florence; Smol, Thomas; Ziegler, Alban; Bonneau, Dominique; Colin, Estelle; Mercier, Sandra; Cogné, Benjamin; Bézieau, Stéphane; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Sabatier, Isabelle; Duban-Bedu, Bénédicte; Colson, Cindy; Piton, Amélie; Durand, Benjamin; Capri, Yline; Perrin, Laurence; Wiesener, Antje; Zweier, Christiane; Maroofian, Reza; Carroll, Christopher J; Galehdari, Hamid; Mazaheri, Neda; Callewaert, Bert; Giulianno, Fabienne; Zaafrane-Khachnaoui, Khaoula; Buchert-Lo, Rebecca; Haack, Tobias; Magg, Janine; Rieß, Angelika; Blandfort, Maria; Waldmüller, Stephan; Horber, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla, Licia; Murgia, Alessandra; Frebourg, Thierry; Lebre, Anne Sophie; Nicolas, Gaël; Saugier-Veber, Pascale; Guerrot, Anne-Marie.
Afiliação
  • Vera G; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Sorlin A; Centre de Génétique, CHU Dijon Bourgogne, Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, INSERM 1231, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.
  • Delplancq G; Centre de Génétique, CHU Dijon Bourgogne, Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, INSERM 1231, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.
  • Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Brasseur-Daudruy M; Pediatric Radiology, Rouen University Hospital, F76000, Rouen, France.
  • Petit F; Univ. Lille, RADEME EA7364, CHU Lille, Clinique de Génétique Guy Fontaine, F59000, Lille, France.
  • Smol T; Univ. Lille, RADEME EA7364, CHU Lille, Institut de Génétique Médicale, F59000, Lille, France.
  • Ziegler A; Department of Biochemistry and Genetics, University Hospital, 49933, Angers Cedex 9, France; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, 49933, Angers Cedex 9, France.
  • Bonneau D; Department of Biochemistry and Genetics, University Hospital, 49933, Angers Cedex 9, France; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, 49933, Angers Cedex 9, France.
  • Colin E; Department of Biochemistry and Genetics, University Hospital, 49933, Angers Cedex 9, France; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, 49933, Angers Cedex 9, France.
  • Mercier S; Service de génétique médicale, CHU Nantes, Nantes, France; L'institut du thorax, INSERM, CNRS, Université de Nantes, Nantes, France.
  • Cogné B; Service de génétique médicale, CHU Nantes, Nantes, France; L'institut du thorax, INSERM, CNRS, Université de Nantes, Nantes, France.
  • Bézieau S; Service de génétique médicale, CHU Nantes, Nantes, France; L'institut du thorax, INSERM, CNRS, Université de Nantes, Nantes, France.
  • Edery P; Service de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est- HCL, Lyon, France.
  • Lesca G; Service de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est- HCL, Lyon, France.
  • Chatron N; Service de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est- HCL, Lyon, France.
  • Sabatier I; Department of Pediatric Neurology, Lyon University Hospitals, Lyon, France.
  • Duban-Bedu B; Cytogenetics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France.
  • Colson C; Service de Génétique, CHU de Caen - Hôpital Clémenceau, Caen, France.
  • Piton A; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Durand B; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France.
  • Perrin L; Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France.
  • Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Maroofian R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
  • Carroll CJ; Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Giulianno F; Medical Genetics Unit 2, L'Archet Hospital, Nice, France; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland.
  • Zaafrane-Khachnaoui K; Medical Genetics Unit 2, L'Archet Hospital, Nice, France.
  • Buchert-Lo R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Magg J; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.
  • Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Blandfort M; Praxis fuer Neuropaediatrie und humangenetische Beratung, Landau, Germany.
  • Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Horber V; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.
  • Leonardi E; Molecular Genetics of Neurodevelopment, Dept. of Woman and Child Health, University of Padova, Padova, Italy; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.
  • Polli R; Molecular Genetics of Neurodevelopment, Dept. of Woman and Child Health, University of Padova, Padova, Italy; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.
  • Turolla L; Medical Genetics Unit, Local Health Authority (ULSS2), Treviso, Italy.
  • Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy; Medical Genetics Unit, Local Health Authority (ULSS2), Treviso, Italy.
  • Frebourg T; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Lebre AS; Department of Genetics, Reims University Hospital, Reims, France.
  • Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Saugier-Veber P; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Guerrot AM; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address: anne-marie.guerrot@chu-rouen.fr.
Eur J Med Genet ; 63(10): 104004, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32688057
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição GATA / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição GATA / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Ano de publicação: 2020 Tipo de documento: Article