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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K; Lüdecke, Hermann-Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M; Wieland, Thomas; Andrieux, Joris; Strom, Tim M; Wieczorek, Dagmar; Dieux-Coëslier, Anne; Zink, Alexander M.
Afiliação
  • Dennert N; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Engels H; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Cremer K; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Becker J; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Wohlleber E; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Albrecht B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Ehret JK; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Lüdecke HJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Suri M; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Carignani G; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom.
  • Renieri A; Medical Genetics Unit, University of Siena, Siena, Italy.
  • Kukuk GM; Medical Genetics Unit, University of Siena, Siena, Italy.
  • Wieland T; Department of Radiology, University of Bonn, Bonn, Germany.
  • Andrieux J; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Strom TM; Laboratory of Medical Genetics, Hôpital Jeanne de Flandre University Hospital, Lille, France.
  • Wieczorek D; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Dieux-Coëslier A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Zink AM; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Am J Med Genet A ; 173(2): 435-443, 2017 Feb.
Article em En | MEDLINE | ID: mdl-27862890
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Deleção de Sequência / Mutação Puntual / Fatores de Transcrição SOXB1 / Estudos de Associação Genética / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Deleção de Sequência / Mutação Puntual / Fatores de Transcrição SOXB1 / Estudos de Associação Genética / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article