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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge, Nicola; Isidor, Bertrand; Bitoun, Pierre; Odent, Sylvie; Giurgea, Irina; Cogné, Benjamin; Deb, Wallid; Vincent, Marie; Le Gall, Jessica; Morton, Jenny; Lim, Derek; Le Meur, Guylène; Zazo Seco, Celia; Zafeiropoulou, Dimitra; Bax, Dorine; Zwijnenburg, Petra; Arteche, Anara; Swafiri, Saoud Tahsin; Cleaver, Ruth; McEntagart, Meriel; Kini, Usha; Newman, William; Ayuso, Carmen; Corton, Marta; Herenger, Yvan; Jeanne, Médéric; Calvas, Patrick; Chassaing, Nicolas.
Afiliación
  • Ragge N; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK. nragge@brookes.ac.uk.
  • Isidor B; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK. nragge@brookes.ac.uk.
  • Bitoun P; Service de génétique médicale, Hôtel-Dieu, CHU de Nantes, Nantes, France.
  • Odent S; SIDVA 91, Ophthalmic Genetics, 1 rue de la Cour de, 91260, Juvisy s/orge, France.
  • Giurgea I; Service de Génétique Clinique, Centre de référence CLAD-Ouest, Université Rennes 1, UMR 6290 CNRS IGDR, CHU Rennes, Rennes, France.
  • Cogné B; U.F. de Génétique moléculaire, Hôpital Armand Trousseau, Assistance Publique, Hôpitaux de Paris, 75012, Paris, France.
  • Deb W; Faculté de médecine, INSERM UMR S933, Sorbonne Université, 75012, Paris, France.
  • Vincent M; Service de génétique médicale, Hôtel-Dieu, CHU de Nantes, Nantes, France.
  • Le Gall J; Service de génétique médicale, Hôtel-Dieu, CHU de Nantes, Nantes, France.
  • Morton J; Service de génétique médicale, Hôtel-Dieu, CHU de Nantes, Nantes, France.
  • Lim D; Service de génétique médicale, Hôtel-Dieu, CHU de Nantes, Nantes, France.
  • Le Meur G; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Zafeiropoulou D; Service d'ophtalmologie, Hôtel Dieu, CHU de Nantes, Nantes, France.
  • Bax D; UDEAR, UMR 1056 Inserm, Université de Toulouse, Toulouse, France.
  • Zwijnenburg P; Department of Human Genetics, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Arteche A; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
  • Swafiri ST; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Cleaver R; Department of Genetics, Health Research Institute-Jiménez Díaz Foundation, University Hospital (IIS-FJD-UAM), Madrid, Spain.
  • McEntagart M; Department of Genetics, Health Research Institute-Jiménez Díaz Foundation, University Hospital (IIS-FJD-UAM), Madrid, Spain.
  • Kini U; South West Thames Regional Genetics Service, St. George's Healthcare NHS Trust, London, UK.
  • Newman W; South West Thames Regional Genetics Service, St. George's Healthcare NHS Trust, London, UK.
  • Ayuso C; Oxford Centre for Genomic Medicine, Oxford, UK.
  • Corton M; Manchester Royal Eye Hospital, Manchester, UK.
  • Herenger Y; Department of Genetics, Health Research Institute-Jiménez Díaz Foundation, University Hospital (IIS-FJD-UAM), Madrid, Spain.
  • Jeanne M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Calvas P; Department of Genetics, Health Research Institute-Jiménez Díaz Foundation, University Hospital (IIS-FJD-UAM), Madrid, Spain.
  • Chassaing N; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Hum Genet ; 138(8-9): 1051-1069, 2019 Sep.
Article en En | MEDLINE | ID: mdl-29974297
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Múltiples / Catarata / Microftalmía / Proteínas Proto-Oncogénicas / Cromosomas Humanos X / Genes Ligados a X / Defectos de los Tabiques Cardíacos Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Múltiples / Catarata / Microftalmía / Proteínas Proto-Oncogénicas / Cromosomas Humanos X / Genes Ligados a X / Defectos de los Tabiques Cardíacos Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido