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Rare ACTG1 variants in fetal microlissencephaly.
Poirier, Karine; Martinovic, Jelena; Laquerrière, Annie; Cavallin, Mara; Fallet-Bianco, Catherine; Desguerre, Isabelle; Valence, Stephanie; Grande-Goburghun, Jocelyne; Francannet, Christine; Deleuze, Jean-François; Boland, Anne; Chelly, Jamel; Bahi-Buisson, Nadia.
Afiliação
  • Poirier K; Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Martinovic J; Unit of Fetal Pathology, APHP, Antoine Beclere University Hospital, Clamart, France.
  • Laquerrière A; Pathology Laboratory, Rouen University Hospital, France; NeoVasc Region-Inserm Team ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions, Institute of Research for Innovation in Biomedicine, University of Rouen, Rouen, France.
  • Cavallin M; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • Fallet-Bianco C; Université de Montréal, CHU Sainte Justine, Montréal, QC, Canada.
  • Desguerre I; Pediatric Neurology, Necker Enfants Malades University Hospital, Paris, France.
  • Valence S; Pediatric Neurology, Trousseau University Hospital, Paris, France.
  • Grande-Goburghun J; Pathology Laboratory, Centre hospitalier de Tulle, France.
  • Francannet C; Department of Clinical Genetics, Clermont Ferrand University Hospital, France.
  • Deleuze JF; Centre National de Génotypage, Evry, France.
  • Boland A; Centre National de Génotypage, Evry, France.
  • Chelly J; Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Genetics and et Pathophysiology of Neurodeveloppemental and Epileptogenic Disorders, IGBMC, Illkirch, France.
  • Bahi-Buisson N; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address: nadia.bahi-buisson@nck.aphp.fr.
Eur J Med Genet ; 58(8): 416-8, 2015 Aug.
Article em En | MEDLINE | ID: mdl-26188271
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Actinas / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Microcefalia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Actinas / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Microcefalia Idioma: En Ano de publicação: 2015 Tipo de documento: Article