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uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Coursimault, Juliette; Rovelet-Lecrux, Anne; Cassinari, Kévin; Brischoux-Boucher, Elise; Saugier-Veber, Pascale; Goldenberg, Alice; Lecoquierre, François; Drouot, Nathalie; Richard, Anne-Claire; Vera, Gabriella; Coutant, Sophie; Quenez, Olivier; Rolain, Marion; Bonnet, Céline; Bronner, Myriam; Lecourtois, Magalie; Nicolas, Gaël.
Afiliación
  • Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Rovelet-Lecrux A; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Cassinari K; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Brischoux-Boucher E; Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France.
  • Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Drouot N; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Richard AC; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Vera G; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Quenez O; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Rolain M; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Bonnet C; Department of Genetics, Nancy University Hospital, Nancy, France.
  • Bronner M; Department of Genetics, Nancy University Hospital, Nancy, France.
  • Lecourtois M; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
  • Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
Hum Mutat ; 43(9): 1239-1248, 2022 09.
Article en En | MEDLINE | ID: mdl-35446447
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Imprimir
XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Cornelia de Lange Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Francia