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Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.
Laffargue, Fanny; Bourthoumieu, Sylvie; Llanas, Brigitte; Baudouin, Véronique; Lahoche, Annie; Morin, Denis; Bessenay, Lucie; De Parscau, Loïc; Cloarec, Sylvie; Delrue, Marie-Ange; Taupiac, Emmanuelle; Dizier, Emilie; Laroche, Cécile; Bahans, Claire; Yardin, Catherine; Lacombe, Didier; Guigonis, Vincent.
Afiliación
  • Laffargue F; Department of Paediatrics, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
  • Bourthoumieu S; Department of Cytogenetic, CHREC, Limoges University Hospital, Limoges, France.
  • Llanas B; Department of Paediatric Nephrology, Bordeaux University Hospital, Bordeaux, France.
  • Baudouin V; Department of Paediatric Nephrology, Hospital R. Debré, APHP, Paris, France.
  • Lahoche A; Department of Paediatric Nephrology, Lille University Hospital, Lille, France.
  • Morin D; Department of Paediatric Nephrology, Montpellier University Hospital, Montpellier, France.
  • Bessenay L; Department of Paediatric Nephrology, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
  • De Parscau L; Department of Paediatric Nephrology, Brest University Hospital, Brest, France.
  • Cloarec S; Department of Paediatric Nephrology, Tours University Hospital, Tours, France.
  • Delrue MA; Department of Medical Genetics, CHU Bordeaux, Rare Diseases Laboratory: Genetics and Metabolism (MRGM), University of Bordeaux, Bordeaux, France.
  • Taupiac E; Department of Paediatric Nephrology, Bordeaux University Hospital, Bordeaux, France.
  • Dizier E; Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France.
  • Laroche C; Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France.
  • Bahans C; Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France.
  • Yardin C; Department of Cytogenetic, CHREC, Limoges University Hospital, Limoges, France.
  • Lacombe D; Department of Medical Genetics, CHU Bordeaux, Rare Diseases Laboratory: Genetics and Metabolism (MRGM), University of Bordeaux, Bordeaux, France.
  • Guigonis V; Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France CNRS UMR 7276, Limoges University, Limoges, France.
Arch Dis Child ; 100(3): 259-64, 2015 Mar.
Article en En | MEDLINE | ID: mdl-25324567
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 17 / Enfermedades del Sistema Nervioso Central / Deleción Cromosómica / Esmalte Dental / Diabetes Mellitus Tipo 2 / Enfermedades Renales Quísticas / Factor Nuclear 1-beta del Hepatocito / Trastornos Mentales Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Arch Dis Child Año: 2015 Tipo del documento: Article País de afiliación: Francia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 17 / Enfermedades del Sistema Nervioso Central / Deleción Cromosómica / Esmalte Dental / Diabetes Mellitus Tipo 2 / Enfermedades Renales Quísticas / Factor Nuclear 1-beta del Hepatocito / Trastornos Mentales Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Arch Dis Child Año: 2015 Tipo del documento: Article País de afiliación: Francia