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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous-Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; Callier, Patrick; Marquet, Valentine; Bieth, Eric; Lévy, Jonathan; Tabet, Anne-Claude; Lyonnet, Stanislas; Baujat, Geneviève; Rio, Marlène; Cartault, François; Scheidecker, Sophie; Gouronc, Aurélie; Schalk, Audrey; Jacquin, Clémence; Spodenkiewicz, Marta; Angélini, Chloé; Pennamen, Perrine; Rooryck, Caroline; Doco-Fenzy, Martine; Poirsier, Céline.
Affiliation
  • Jouret G; Department of Genetics, Reims University Hospital, Reims, France.
  • Egloff M; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.
  • Landais E; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.
  • Tassy O; Department of Genetics, Reims University Hospital, Reims, France.
  • Giuliano F; IGBMC, Strasbourg, France.
  • Karmous-Benailly H; Department of Genetics, Nice University Hospital, Nice, France.
  • Coutton C; Department of Genetics, Nice University Hospital, Nice, France.
  • Satre V; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.
  • Devillard F; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
  • Dieterich K; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.
  • Vieville G; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.
  • Kuentz P; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.
  • le Caignec C; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.
  • Beneteau C; Génétique Biologique, PCBio, Besançon University Hospital, Besançon, France.
  • Isidor B; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
  • Nizon M; Department of Genetics, Nantes University Hospital, Nantes, France.
  • Callier P; Department of Genetics, Nantes University Hospital, Nantes, France.
  • Marquet V; Department of Genetics, Nantes University Hospital, Nantes, France.
  • Bieth E; Department of Genetics, Nantes University Hospital, Nantes, France.
  • Lévy J; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
  • Tabet AC; Department of Genetics, Dijon University Hospital, Dijon, France.
  • Lyonnet S; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.
  • Baujat G; Department of Genetics, Limoges University Hospital, Limoges, France.
  • Rio M; Department of Genetics, Toulouse University Hospital, Toulouse, France.
  • Cartault F; Department of Genetics, Robert-Debré University Hospital, Paris, France.
  • Scheidecker S; Department of Genetics, Robert-Debré University Hospital, Paris, France.
  • Gouronc A; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.
  • Schalk A; INSERM U-1163, Université de Paris, Paris, France.
  • Jacquin C; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.
  • Spodenkiewicz M; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.
  • Angélini C; Department of Genetics, La Réunion University Hospital, Saint Denis, France.
  • Pennamen P; Strasbourg University Hospital, Strasbourg, France.
  • Rooryck C; Strasbourg University Hospital, Strasbourg, France.
  • Doco-Fenzy M; Strasbourg University Hospital, Strasbourg, France.
  • Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.
Am J Med Genet A ; 191(1): 52-63, 2023 Jan.
Article in En | MEDLINE | ID: mdl-36196855

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Microcephaly Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: France

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Microcephaly Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: France