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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Bronicki, Lucas M; Redin, Claire; Drunat, Severine; Piton, Amélie; Lyons, Michael; Passemard, Sandrine; Baumann, Clarisse; Faivre, Laurence; Thevenon, Julien; Rivière, Jean-Baptiste; Isidor, Bertrand; Gan, Grace; Francannet, Christine; Willems, Marjolaine; Gunel, Murat; Jones, Julie R; Gleeson, Joseph G; Mandel, Jean-Louis; Stevenson, Roger E; Friez, Michael J; Aylsworth, Arthur S.
Afiliação
  • Bronicki LM; Greenwood Genetic Center, Greenwood, SC, USA.
  • Redin C; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France.
  • Drunat S; Department of Genetics and INSERM U1141, Robert Debré Hospital, Paris, France.
  • Piton A; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France.
  • Lyons M; Laboratoire de diagnostic génétique, Faculty of Medicine and CHU Strasbourg, Strasbourg, France.
  • Passemard S; Greenwood Genetic Center, Greenwood, SC, USA.
  • Baumann C; Department of Genetics and INSERM U1141, Robert Debré Hospital, Paris, France.
  • Faivre L; Department of Genetics, Robert Debré Hospital, Paris, France.
  • Thevenon J; Fédération Hospitalo- Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Rivière JB; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Isidor B; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Gan G; Fédération Hospitalo- Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Francannet C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Willems M; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Gunel M; Fédération Hospitalo- Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Jones JR; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Gleeson JG; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Mandel JL; Medical Genetics- Clinical Genetics Unit, CHU de Nantes, Nantes-Cedex, France.
  • Stevenson RE; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France.
  • Friez MJ; Service de génétique médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
  • Aylsworth AS; Department of Medical Genetics, Reference Center for Rare Diseases, Developmental Disorders and Multiple Congenital Anomalies, Arnaud de Villeneuve Hospital, Montpellier, France.
Eur J Hum Genet ; 23(11): 1482-7, 2015 Nov.
Article em En | MEDLINE | ID: mdl-25920557
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Tirosina Quinases / Proteínas Serina-Treonina Quinases / Síndrome de Down / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Tirosina Quinases / Proteínas Serina-Treonina Quinases / Síndrome de Down / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido