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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna.
Afiliación
  • Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
  • Selmer KK; Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway.
  • Dimartino C; The National Center for Epilepsy, Oslo University Hospital, Oslo, Norway.
  • Rabionet R; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Blanco-Sánchez B; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Yang S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
  • Reijnders MRF; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • van Essen AJ; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Oufadem M; GeneDx, Gaithersburg, MD, USA.
  • Vigeland MD; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Stadheim B; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Houge G; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Cox H; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Kingston H; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Clayton-Smith J; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Innis JW; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Iascone M; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Cereda A; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
  • Gabbiadini S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, UK.
  • Chung WK; Division of Evolution and Genomic Sciences, University of Manchester, School of Biological Sciences, Manchester, UK.
  • Sanders V; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, UK.
  • Charrow J; Division of Evolution and Genomic Sciences, University of Manchester, School of Biological Sciences, Manchester, UK.
  • Bryant E; Departments of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
  • Millichap J; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Vitobello A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Thauvin C; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Mau-Them FT; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
  • Faivre L; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Lesca G; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Labalme A; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Rougeot C; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Chatron N; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Sanlaville D; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Christensen KM; INSERM UMR1231 GAD, Dijon, France.
  • Kirby A; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Lewandowski R; Centre de Reference maladies rares "Anomalies du Developpement et syndrome malformatifs" de l'Est, Centre de Genetique, Hopital d'Enfants, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Gannaway R; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Aly M; INSERM UMR1231 GAD, Dijon, France.
  • Lehman A; INSERM UMR1231 GAD, Dijon, France.
  • Clarke L; Centre de Reference maladies rares "Anomalies du Developpement et syndrome malformatifs" de l'Est, Centre de Genetique, Hopital d'Enfants, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Graul-Neumann L; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.
  • Zweier C; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
  • Lessel D; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.
  • Lozic B; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France.
  • Aukrust I; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.
  • Peretz R; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
  • Stratton R; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.
  • Smol T; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
  • Dieux-Coëslier A; Saint Louis University School of Medicine, St. Louis, MO, USA.
  • Meira J; Saint Louis University School of Medicine, St. Louis, MO, USA.
Genet Med ; 22(7): 1215-1226, 2020 07.
Article en En | MEDLINE | ID: mdl-32376980
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transcriptoma / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: España
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transcriptoma / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: España