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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Cavallin, Mara; Rujano, Maria A; Bednarek, Nathalie; Medina-Cano, Daniel; Bernabe Gelot, Antoinette; Drunat, Severine; Maillard, Camille; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Beneteau, Claire; Besnard, Thomas; Cogné, Benjamin; Eveillard, Marion; Kuster, Alice; Poirier, Karine; Verloes, Alain; Martinovic, Jelena; Bidat, Laurent; Rio, Marlene; Lyonnet, Stanislas; Reilly, M Louise; Boddaert, Nathalie; Jenneson-Liver, Melanie; Motte, Jacques; Doco-Fenzy, Martine; Chelly, Jamel; Attie-Bitach, Tania; Simons, Matias; Cantagrel, Vincent; Passemard, Sandrine; Baffet, Alexandre; Thomas, Sophie; Bahi-Buisson, Nadia.
Afiliação
  • Cavallin M; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Rujano MA; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Bednarek N; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France.
  • Medina-Cano D; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Bernabe Gelot A; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Drunat S; Laboratory of Epithelial biology and disease, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Maillard C; University of Reims Champagne Ardennes, UFR médecine, Reims, France.
  • Garfa-Traore M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Bole C; Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Nitschké P; AP-HP, Hôpital Armand Trousseau, Laboratoire d'Anatomie Pathologique, Neuropathologie, Paris, France.
  • Beneteau C; INMED, INSERM U 901 Campus de Luminy, Marseille, France.
  • Besnard T; Department of Medical Genetics and INSERM UMR1141, APHP-Robert DEBRE Universitary Hospital, Paris, France.
  • Cogné B; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Eveillard M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Kuster A; Cell Imaging platform, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Poirier K; Genomic Core Facility, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Verloes A; Bioinformatics Core Facility, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Martinovic J; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.
  • Bidat L; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.
  • Rio M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.
  • Lyonnet S; CHU Nantes, Service d'Hématologie Biologique, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.
  • Reilly ML; CHU Nantes, Service de réanimation Pédiatrique, Centre de compétence des maladies héréditaires du métabolisme, 38 boulevard Jean Monet, 44093 Nantes, France.
  • Boddaert N; Inserm, U1016, Institut Cochin, Paris, France.
  • Jenneson-Liver M; CNRS, UMR8104, Paris, France.
  • Motte J; Department of Medical Genetics and INSERM UMR1141, APHP-Robert DEBRE Universitary Hospital, Paris, France.
  • Doco-Fenzy M; Sorbonne-Paris Cité University, Denis Diderot School of Medicine, Paris, France.
  • Chelly J; Unit of Fetal Pathology Hospital Antoine Béclère, AP-HP, Clamart, France.
  • Attie-Bitach T; Department of Prenatal Diagnosis, Department of Obstetrics and Gynecology, René Dubos Hospital, Pontoise, France.
  • Simons M; Service de Génétique, Necker Enfants Malades University Hospital, AP-HP, Paris, France.
  • Cantagrel V; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Passemard S; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Baffet A; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Thomas S; Laboratory of Inherited Kidney Disease, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Bahi-Buisson N; Paris Diderot University, 75013 Paris, France.
Brain ; 140(10): 2597-2609, 2017 Oct 01.
Article em En | MEDLINE | ID: mdl-28969387
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Neurais / Fibroblastos / Microcefalia / Mitose / Mutação / Proteínas do Tecido Nervoso Limite: Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Neurais / Fibroblastos / Microcefalia / Mitose / Mutação / Proteínas do Tecido Nervoso Limite: Adult / Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido