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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon, Anne-Sophie; Collins, Stephan C; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E; Overs, Alexis; Palomares-Bralo, María; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A; Rosenfeld, Jill A; Le Guyader, Gwenaël; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozières, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz.
Afiliação
  • Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France; European Reference Network, ERN-ITHACA. Electronic addres
  • Collins SC; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France.
  • Bruel AL; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France.
  • Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Wagner C; UMR7104, U964, INSERM, IGBMC, Illkirch, France.
  • Vancollie VE; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Thomas Q; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Neurology, Dijon Bourgogne University Hospital, Dijon, France.
  • Chevarin M; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France.
  • Weber M; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU-TRANSLAD and GIMI Institute, Dijon Bourgogne University Hospital, Dijon, Franc
  • Prada CE; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Overs A; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France.
  • Palomares-Bralo M; European Reference Network, ERN-ITHACA; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Autonomous University of Madrid, IdiPAZ, Madrid, Spain; Rare Diseases Networking Biomedical Research Centre (CIBERER), Carlos III Institute, Madrid, Spain.
  • Santos-Simarro F; European Reference Network, ERN-ITHACA; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Autonomous University of Madrid, IdiPAZ, Madrid, Spain; Rare Diseases Networking Biomedical Research Centre (CIBERER), Carlos III Institute, Madrid, Spain.
  • Pacio-Míguez M; Rare Diseases Networking Biomedical Research Centre (CIBERER), Carlos III Institute, Madrid, Spain.
  • Busa T; Department of Medical Genetics, CHU Timone Enfants, AP-HM, Marseille, France.
  • Legius E; Laboratory for Neurofibromatosis Research, Department of Human Genetics, KU Leuven University Hospital, Belgium.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.
  • Le Guyader G; Genetics Department, Poitiers University Hospital, Poitiers, France; University of Poitiers, Poitiers, France.
  • Egloff M; Genetics Department, Poitiers University Hospital, Poitiers, France; University of Poitiers, Poitiers, France; Experimental and Clinical Neurosciences Laboratory, INSERM, University of Poitiers, Poitiers, France.
  • Le Guillou X; Genetics Department, Poitiers University Hospital, Poitiers, France; University of Poitiers, Poitiers, France.
  • Mencarelli MA; Medical Genetics, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Renieri A; Medical Genetics, Azienda Ospedaliero-Universitaria Senese, Siena, Italy; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
  • Grosso S; Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy; U.O.C. Pediatria, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Levy J; Genetics Department, Robert-Debré University Hospital, APHP, Paris, France.
  • Dozières B; Department of Pediatric Neurology and Metabolic Diseases, Robert Debré University Hospital, APHP, Paris, France.
  • Desguerre I; Departments of Pediatric Neurology and Medical Genetics, Hôpital Necker-Enfants Malades, Université Paris Cité, Paris, France.
  • Vitobello A; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France; European Reference Network, ERN-ITHACA.
  • Duffourd Y; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France.
  • Lelliott CJ; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Thauvin-Robinet C; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Genetics and Reference Center for Developme
  • Philippe C; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France.
  • Faivre L; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France; European Reference Network, ERN-ITHACA; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU-TRANSLAD and GIMI Institute, Dijon Bou
  • Yalcin B; UMR1231 GAD "Génétique des Anomalies du Développement", INSERM, FHU-TRANSLAD, University of Burgundy, Dijon, France. Electronic address: binnaz.yalcin@inserm.fr.
Genet Med ; 25(7): 100835, 2023 Jul.
Article em En | MEDLINE | ID: mdl-36999555
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lisencefalia / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Etiology_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lisencefalia / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Etiology_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article