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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M; Labalme, Audrey; Salmi, Manal; Bache, Iben; Bruneau, Nadine; Pendziwiat, Manuela; Fluss, Joel; de Bellescize, Julitta; Scholly, Julia; Møller, Rikke S; Craiu, Dana; Tommerup, Niels; Valenti-Hirsch, Maria Paola; Schluth-Bolard, Caroline; Sloan-Béna, Frédérique; Helbig, Katherine L; Weckhuysen, Sarah; Edery, Patrick; Coulbaut, Safia; Abbas, Mohamed; Scheffer, Ingrid E; Tang, Sha; Myers, Candace T; Stamberger, Hannah; Carvill, Gemma L; Shinde, Deepali N; Mefford, Heather C; Neagu, Elena; Huether, Robert; Lu, Hsiao-Mei; Dica, Alice; Cohen, Julie S; Iliescu, Catrinel; Pomeran, Cristina; Rubenstein, James; Helbig, Ingo; Sanlaville, Damien; Hirsch, Edouard; Szepetowski, Pierre.
Afiliación
  • Rudolf G; IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg, France.
  • Lesca G; Federation of Translational Medicine, Strasbourg, France.
  • Mehrjouy MM; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Labalme A; Department of Genetics, Lyon University Hospitals, Lyon, France.
  • Salmi M; Claude Bernard Lyon I University, Lyon, France.
  • Bache I; Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Lyon, France.
  • Bruneau N; Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.
  • Pendziwiat M; Department of Genetics, Lyon University Hospitals, Lyon, France.
  • Fluss J; INSERM U901, Marseille, France.
  • de Bellescize J; UMR S901, Aix-Marseille University, Marseille, France.
  • Scholly J; Mediterranean Institute of Neurobiology (INMED), Marseille, France.
  • Møller RS; Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.
  • Craiu D; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
  • Tommerup N; INSERM U901, Marseille, France.
  • Valenti-Hirsch MP; UMR S901, Aix-Marseille University, Marseille, France.
  • Schluth-Bolard C; Mediterranean Institute of Neurobiology (INMED), Marseille, France.
  • Sloan-Béna F; Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.
  • Helbig KL; Pediatric Neurology, Child and Adolescent Department, Geneva University Hospitals, Geneva, Switzerland.
  • Weckhuysen S; Epilepsy, Sleep and Pediatric Neurophysiology Department, Lyon University Hospitals, Lyon, France.
  • Edery P; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Coulbaut S; Danish Epilepsy Centre, Dianalund, Denmark.
  • Abbas M; Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Scheffer IE; "Carol Davila" University of Medicine Bucharest, Department of Clinical Neurosciences (No.6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.
  • Tang S; Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.
  • Myers CT; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Stamberger H; Department of Genetics, Lyon University Hospitals, Lyon, France.
  • Carvill GL; Claude Bernard Lyon I University, Lyon, France.
  • Shinde DN; Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Lyon, France.
  • Mefford HC; Department of Medical Genetics, University Hospitals of Geneva, Geneva, Switzerland.
  • Neagu E; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Huether R; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.
  • Lu HM; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Dica A; Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium.
  • Cohen JS; Department of Genetics, Lyon University Hospitals, Lyon, France.
  • Iliescu C; Claude Bernard Lyon I University, Lyon, France.
  • Pomeran C; Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Lyon, France.
  • Rubenstein J; UCB-Pharma, Colombes, France.
  • Helbig I; UCB-Pharma, Colombes, France.
  • Sanlaville D; Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Australia.
  • Hirsch E; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Szepetowski P; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.
Eur J Hum Genet ; 24(12): 1761-1770, 2016 12.
Article en En | MEDLINE | ID: mdl-27352968
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Epilepsia Generalizada / Miembro 2 del Grupo F de la Subfamilia 1 de Receptores Nucleares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Francia
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Epilepsia Generalizada / Miembro 2 del Grupo F de la Subfamilia 1 de Receptores Nucleares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Francia