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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christèle; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, François; Saugier-Veber, Pascale; Nicolas, Gaël; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Mariëlle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Héron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M; Rousseau, Justine; Levy, Michael A; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer.
Afiliação
  • Aref-Eshghi E; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
  • Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
  • Pedro VP; Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON N6A5C1, Canada.
  • Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France.
  • Ruiz-Pallares N; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France.
  • Andrau JC; Institut de Génétique Moléculaire de Montpellier (IGMM), University Montpellier, CNRS-UMR5535, 34090 Montpellier, France.
  • Lacombe D; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.
  • Van-Gils J; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.
  • Fergelot P; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.
  • Dubourg C; Service de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, 35000 Rennes, France.
  • Cormier-Daire V; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France.
  • Rondeau S; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France.
  • Lecoquierre F; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France.
  • Saugier-Veber P; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France.
  • Nicolas G; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France.
  • Lesca G; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.
  • Chatron N; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.
  • Sanlaville D; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.
  • Vitobello A; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, 21000 Dijon, France.
  • Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon, 21000, Dijon, France.
  • Thauvin-Robinet C; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon, 21000, Dijon, France.
  • Laumonnier F; UMR 1253, iBrain, Universite de Tours, Inserm, 37200 Tours, France; Centre Hospitalier Universitaire de Tours, Service de Genetique, 37000 Tours, France.
  • Raynaud M; UMR 1253, iBrain, Universite de Tours, Inserm, 37200 Tours, France; Centre Hospitalier Universitaire de Tours, Service de Genetique, 37000 Tours, France.
  • Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Mannens M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1012 WX, the Netherlands.
  • Velasco G; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France.
  • Francastel C; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France.
  • Ulveling D; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
  • Heide S; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.
  • Héron D; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.
  • Mignot C; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.
  • Keren B; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.
  • Whalen S; Unit of Genetics, APHP Sorbonne University, Trousseau Hospital, 75012 Paris, France.
  • Afenjar A; Unit of Genetics, APHP Sorbonne University, Trousseau Hospital, 75012 Paris, France.
  • Bienvenu T; Department of Molecular Genetics, Cochin Hospital, 75014 Paris, France.
  • Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada.
  • Rousseau J; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada.
  • Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada.
  • Brick L; Genetic Division, Department of Pediatrics, McMaster University, Hamilton, ON L8S4K1, Canada.
  • Kozenko M; Genetic Division, Department of Pediatrics, McMaster University, Hamilton, ON L8S4K1, Canada.
  • Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada.
  • Siu VM; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada.
  • Stuart A; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
  • Kadour M; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A5W9 Canada; St. Joseph's Health Care London, London, ON N6A5W9 Canada.
  • Masters J; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A5W9 Canada; St. Joseph's Health Care London, London, ON N6A5W9 Canada.
Am J Hum Genet ; 106(3): 356-370, 2020 03 05.
Article em En | MEDLINE | ID: mdl-32109418
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Metilação de DNA / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Metilação de DNA / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article