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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andrée; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W; Heron, Delphine; Hildebrand, Michael S; Lesca, Gaëtan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A; Morgan, Angela T; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David.
Afiliación
  • Rouxel F; Génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, INSERM U1183, ERN ITHACA, Montpellier, France.
  • Relator R; The Archie & Irene Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.
  • Kerkhof J; The Archie & Irene Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.
  • McConkey H; The Archie & Irene Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.
  • Levy M; The Archie & Irene Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.
  • Dias P; Genetics Department, Hospital Center of Lisbon North, ERN ITHACA, Lisbon, Portugal.
  • Barat-Houari M; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique des Maladies Rares et Auto-Inflammatoires, CHU Montpellier, Université de Montpellier, Montpellier, France.
  • Bednarek N; Genetics Department, CHU Reims, Medical school IFR53, EA3801, Reims, France.
  • Boute O; Genetics Department, Guy Fontaine Medical Center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, Lille, France.
  • Chatron N; Genetics Department, Lyon University Hospital, and Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Claude Bernard Lyon 1 University, Lyon, France.
  • Cherik F; Genetics Department, CHU Clermont-Ferrand, Clermont-Ferrand, France.
  • Delahaye-Duriez A; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Paris, France.
  • Doco-Fenzy M; Genetics Department, CHU Reims, Medical school IFR53, EA3801, Reims, France.
  • Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.
  • Gauthier LW; Genetics Department, Lyon University Hospital, and Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Claude Bernard Lyon 1 University, Lyon, France.
  • Heron D; Genetics Department, University Hospital Pitié-Salpétrière, Paris, France.
  • Hildebrand MS; Epilepsy Research Center, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, Victoria, Australia.
  • Lesca G; Genetics Department, Lyon University Hospital, and Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Claude Bernard Lyon 1 University, Lyon, France.
  • Lespinasse J; Chromosomic genetic laboratory, CH Général, Chambéry, France.
  • Mazel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France.
  • Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, ERN ITHACA, Amsterdam, Netherlands.
  • Morgan AT; Department of Audiology and Speech Pathology, Melbourne School of Health Sciences, The University of Melbourne, Parkville, Victoria, Australia.
  • Pinson L; Génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, INSERM U1183, ERN ITHACA, Montpellier, France.
  • Quelin C; Department of Clinical Genetics, CLAD Ouest, CHU de Rennes, Hôpital Sud, Rennes, France.
  • Rossi M; Genetics Department, Lyon University Hospital, and Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Claude Bernard Lyon 1 University, Lyon, France; Genetics Department, Referral Centre for Developmental Abnormalities, Lyon University Hospital Lyon, France; INSERM U1028, CNRS UMR5292, Lyon Neuros
  • Ruiz-Pallares N; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique des Maladies Rares et Auto-Inflammatoires, CHU Montpellier, Université de Montpellier, Montpellier, France.
  • Tran-Mau-Them F; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France; Functional Unit 6254 Innovation in Genomic Diagnosis of Rare Diseases, CHU Dijon Bourgogne, Dijon, France.
  • Van Kessel IN; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, ERN ITHACA, Amsterdam, Netherlands.
  • Vincent M; Genetics Department, CHU de Nantes, Nantes, France.
  • Weber M; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France.
  • Willems M; Génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, INSERM U1183, ERN ITHACA, Montpellier, France.
  • Leguyader G; Genetics Department, CHU de Poitiers, Poitiers University Hospital, Poitiers, France.
  • Sadikovic B; The Archie & Irene Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
  • Genevieve D; Génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, INSERM U1183, ERN ITHACA, Montpellier, France. Electronic address: d-genevieve@chu-montpellier.fr.
Genet Med ; 24(5): 1096-1107, 2022 05.
Article en En | MEDLINE | ID: mdl-35063350
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Francia