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Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre, François; Bonnevalle, Antoine; Chadie, Alexandra; Gayet, Claire; Dumant-Forest, Clémentine; Renaux-Petel, Mariette; Leca, Jean-Baptiste; Hazelzet, Tristan; Brasseur-Daudruy, Marie; Louillet, Ferielle; Muraine, Marc; Coutant, Sophie; Quenez, Olivier; Boland, Anne; Deleuze, Jean-François; Frebourg, Thierry; Goldenberg, Alice; Saugier-Veber, Pascale; Guerrot, Anne-Marie; Nicolas, Gaël.
Afiliação
  • Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Bonnevalle A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Chadie A; Department of Neonatal Pediatrics and Intensive Care-Neuropediatrics, Rouen University Hospital, Rouen, France.
  • Gayet C; Department of Pediatrics, Rouen University Hospital, Rouen, France.
  • Dumant-Forest C; Department of Pediatrics, Rouen University Hospital, Rouen, France.
  • Renaux-Petel M; Department of Pediatric Surgery, Rouen University Hospital, Rouen, France.
  • Leca JB; Department of Pediatric Surgery, Rouen University Hospital, Rouen, France.
  • Hazelzet T; Department of Pediatrics, Rouen University Hospital, Rouen, France.
  • Brasseur-Daudruy M; Department of Radiology, Rouen University Hospital, Rouen, France.
  • Louillet F; Department of Pediatrics, Rouen University Hospital, Rouen, France.
  • Muraine M; Department of Ophthalmology, Rouen University Hospital, Rouen, France.
  • Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Quenez O; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
  • Frebourg T; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Am J Med Genet A ; 179(11): 2257-2262, 2019 11.
Article em En | MEDLINE | ID: mdl-31390136
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Predisposição Genética para Doença / Peptídeos e Proteínas de Sinalização Intracelular / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Predisposição Genética para Doença / Peptídeos e Proteínas de Sinalização Intracelular / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos