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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak, Guillaume; Jobic, Florence; Receveur, Aline; Bilan, Frédéric; Gilbert-Dussardier, Brigitte; Tiffany, Busa; Missirian, Chantal; Willems, Marjolaine; Odent, Sylvie; Lucas, Josette; Dubourg, Christele; Schaefer, Elise; Scheidecker, Sophie; Lespinasse, James; Goldenberg, Alice; Guerrot, Anne-Marie; Joly-Helas, Géraldine; Chambon, Pascal; Le Caignec, Cédric; David, Albert; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Amblard, Florence; Harbuz, Radu; Sanlaville, Damien; Till, Marianne; Vincent-Delorme, Catherine; Colson, Cindy; Andrieux, Joris; Naudion, Sophie; Toutain, Jérome; Rooryck, Caroline; de Fréminville, Bénédicte; Prieur, Fabienne; Daire, Valérie Cormier; Amram, Daniel; Kleinfinger, Pascale; Schulze, Matthias B; Raabe-Meyer, Gisela; Courage, Carolina; Lemke, Johannes; Stefanou, Eunice G; Loretta, Thomaidis; Emmanouil, Manolakos; Tzeli, Sophia Kitsiou; Sodowska, Henryka; Anderson, Jasen; Nandini, Adayapalam; Copin, Henri.
Affiliation
  • Jedraszak G; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France.
  • Jobic F; UR4666, University of Picardy Jules Verne, Amiens, France.
  • Receveur A; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France.
  • Bilan F; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France.
  • Gilbert-Dussardier B; Genetics Laboratory, University Hospital of Poitiers, Poitiers, France.
  • Tiffany B; Medical Genetics Unit, University Hospital of Poitiers, Poitiers, France.
  • Missirian C; Medical Genetics Unit, University Hospital of Marseille, Marseille, France.
  • Willems M; Cytogenetics Laboratory, University Hospital of Marseille, Marseille, France.
  • Odent S; Medical Genetics Laboratory, University Hospital of Montpellier, Montpellier, France.
  • Lucas J; Medical Genetics Unit, University Hospital of Rennes, Rennes, France.
  • Dubourg C; Genetics Laboratory, University Hospital of Rennes, Rennes, France.
  • Schaefer E; Molecular & Genomic Institute, Rennes, France.
  • Scheidecker S; Clinical Genetics Unit, University Hospital of Strasbourg, Strasbourg, France.
  • Lespinasse J; Medical Genetics Laboratory & INSERM U1112, Strasbourg, France.
  • Goldenberg A; Clinical Genetics Unit, Hospital of Chambéry, Chambéry, France.
  • Guerrot AM; Clinical Genetics Unit, University Hospital of Rouen, Rouen, France.
  • Joly-Helas G; Clinical Genetics Unit, University Hospital of Rouen, Rouen, France.
  • Chambon P; Cytogenetics Laboratory, University Hospital of Rouen, Rouen, France.
  • Le Caignec C; Cytogenetics Laboratory, University Hospital of Rouen, Rouen, France.
  • David A; Medical Gentics Unit, University Hospital of Toulouse, Toulouse, France.
  • Coutton C; Clinical Genetics Unit, University Hospital of Nantes, Nantes, France.
  • Satre V; Cytogenetics Laboratory, University Hospital of Grenoble & INSERM U1209 Institute for Advanced Biosciences, University of Grenoble Alpes, Grenoble, France.
  • Vieville G; Cytogenetics Laboratory, University Hospital of Grenoble & INSERM U1209 Institute for Advanced Biosciences, University of Grenoble Alpes, Grenoble, France.
  • Amblard F; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France.
  • Harbuz R; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France.
  • Sanlaville D; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France.
  • Till M; Cytogenetics Laboratory, University Hospital of Lyon, Bron, France.
  • Vincent-Delorme C; Cytogenetics Laboratory, University Hospital of Lyon, Bron, France.
  • Colson C; Catherine Vincent Delorme, Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, Lille, France.
  • Andrieux J; Catherine Vincent Delorme, Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, Lille, France.
  • Naudion S; Molecular Genetics Institute, University hospital of Lille, Lille, France.
  • Toutain J; Clinical Genetics Unit, University Hospital of Bordeaux, Bordeaux, France.
  • Rooryck C; Clinical Genetics Unit, University Hospital of Bordeaux, Bordeaux, France.
  • de Fréminville B; Medical Genetics Laboratory, University Hospital of Bordeaux, Bordeaux, France.
  • Prieur F; Genetics Laboratory, University Hospital of Saint-Etienne, Saint-Etienne, France.
  • Daire VC; Medical Genetics Unit, University Hospital of Saint-Etienne, Saint Etienne, France.
  • Amram D; Medical Genetics Federation, Necker-Children's Hospital, Paris, France.
  • Kleinfinger P; Clinicial Genetics Unit, University Hospital of Creteil, Creteil, France.
  • Schulze MB; Cerba Laboratory, Saint-Ouen, France.
  • Raabe-Meyer G; Department of Molecular Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke, Nuthetal, Germany.
  • Courage C; Praxis für Humangenetik Dr. Schulze, Hannover, Germany.
  • Lemke J; Folkhälsan Research Center, Helsinki, Finland.
  • Stefanou EG; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Loretta T; Cytogenetics Unit, Laboratory of Medical Genetics, University General Hospital of Patras, Patras, Greece.
  • Emmanouil M; Developmental Assessment Unit, National and Kapodistrian University of Athens, Athens, Greece.
  • Tzeli SK; ATG Genetic Center, Athens, Greece.
  • Sodowska H; Department of Medical Genetics, National and Kapodistrian University of Athens, Athens, Greece.
  • Anderson J; Niepubliczny Zaklad Opieki Zdrowotne "Genom", Ruda Slaska, Poland.
  • Nandini A; Cytogenetics Department, Sullivan and Nicolaides Pathology, Taringa, Queensland, Australia.
  • Copin H; Department of Cytogenetics, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Am J Med Genet A ; 194(4): e63476, 2024 Apr.
Article in En | MEDLINE | ID: mdl-37974505
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / Eye Abnormalities / Chromosome Disorders / Heart Defects, Congenital / Aneuploidy Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / Eye Abnormalities / Chromosome Disorders / Heart Defects, Congenital / Aneuploidy Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos