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Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Blanluet, Maud; Chantot-Bastaraud, Sandra; Chambon, Pascal; Cassinari, Kévin; Vera, Gabriella; Goldenberg, Alice; Keren, Boris; Le Meur, Nathalie; Hannequin, Didier; Mace, Bertrand; Siffroi, Jean-Pierre; Frebourg, Thierry; Nicolas, Gaël; Joly-Helas, Géraldine.
Afiliación
  • Blanluet M; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Chantot-Bastaraud S; Department of Medical Genetics and Embryology, Armand-Trousseau Children Hospital, AP-HP, Paris, France.
  • Chambon P; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Cassinari K; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Vera G; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Keren B; Genetics Department, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
  • Le Meur N; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Hannequin D; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Mace B; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Siffroi JP; Department of Medical Genetics and Embryology, Armand-Trousseau Children Hospital, AP-HP, Paris, France.
  • Frebourg T; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
  • Joly-Helas G; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000, Rouen, France.
Am J Med Genet A ; 185(10): 3057-3061, 2021 10.
Article en En | MEDLINE | ID: mdl-34043868
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Escoliosis / Anomalías Múltiples / Disomía Uniparental / Cifosis / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Escoliosis / Anomalías Múltiples / Disomía Uniparental / Cifosis / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia