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CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Montagne, Louise; Derhourhi, Mehdi; Piton, Amélie; Toussaint, Bénédicte; Durand, Emmanuelle; Vaillant, Emmanuel; Thuillier, Dorothée; Gaget, Stefan; De Graeve, Franck; Rabearivelo, Iandry; Lansiaux, Amélie; Lenne, Bruno; Sukno, Sylvie; Desailloud, Rachel; Cnop, Miriam; Nicolescu, Ramona; Cohen, Lior; Zagury, Jean-François; Amouyal, Mélanie; Weill, Jacques; Muller, Jean; Sand, Olivier; Delobel, Bruno; Froguel, Philippe; Bonnefond, Amélie.
Afiliación
  • Montagne L; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France; Department of Pediatrics, Saint Antoine Pediatric Hospital, Saint Vincent de Paul Hospital, Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Catholic Univer
  • Derhourhi M; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Piton A; Molecular diagnostic laboratory, Strasbourg University Hospitals, Strasbourg, France.
  • Toussaint B; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Durand E; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Vaillant E; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Thuillier D; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Gaget S; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • De Graeve F; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Rabearivelo I; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Lansiaux A; Department of Medical Research, Saint Philibert Hospital, Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Lomme, France.
  • Lenne B; Department of Cytogenetics-Medical Genetics, Saint Vincent de Paul Hospital, Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Catholic University of Lille, Lille, France.
  • Sukno S; Department of Paediatric Neurology, Saint Antoine Paediatric Hospital, Saint Vincent de Paul Hospital, Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Catholic University of Lille, Lille, France.
  • Desailloud R; Department of Endocrinology-Nutrition, University of Picardie Jules Verne, Amiens, France.
  • Cnop M; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium; Division of Endocrinology, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium.
  • Nicolescu R; Department of Pediatrics, General Hospital Citadelle, Liège, Belgium.
  • Cohen L; Genetic Institute, Schneider Children's Medical Center, Petah Tikva, Israel.
  • Zagury JF; Laboratoire Génomique, Bioinformatique et Applications, EA4627, Conservatoire National des Arts et Métiers, Paris, France.
  • Amouyal M; Inserm U1141, Robert Debré Hospital, Paris Diderot-Paris 7 University, Paris, France.
  • Weill J; Pediatric Endocrine Department, Lille hospital, Lille, France.
  • Muller J; Molecular diagnostic laboratory, Strasbourg University Hospitals, Strasbourg, France; Inserm U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
  • Sand O; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France.
  • Delobel B; Department of Cytogenetics-Medical Genetics, Saint Vincent de Paul Hospital, Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Catholic University of Lille, Lille, France.
  • Froguel P; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France; Department of Medicine, Section of Genomics of Common Disease, Imperial College London, London, United Kingdom. Electronic address: p.froguel@imperial.ac.uk.
  • Bonnefond A; CNRS UMR 8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, University of Lille, Lille, France; Department of Medicine, Section of Genomics of Common Disease, Imperial College London, London, United Kingdom. Electronic address: amelie.bonnefond@inserm.fr.
Mol Metab ; 13: 1-9, 2018 07.
Article en En | MEDLINE | ID: mdl-29784605
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuenciación del Exoma / Discapacidad Intelectual / Obesidad Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Mol Metab Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuenciación del Exoma / Discapacidad Intelectual / Obesidad Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Mol Metab Año: 2018 Tipo del documento: Article