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Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke, Nadja; Caliebe, Almuth; Koenig, Rainer; Kant, Sarina G; Stark, Zornitza; Cormier-Daire, Valérie; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Hoff, Kirstin; Kawalia, Amit; Thiele, Holger; Altmüller, Janine; Fischer-Zirnsak, Björn; Knaus, Alexej; Zhu, Na; Heinrich, Verena; Huber, Celine; Harabula, Izabela; Spielmann, Malte; Horn, Denise; Kornak, Uwe; Hecht, Jochen; Krawitz, Peter M; Nürnberg, Peter; Siebert, Reiner; Manzke, Hermann; Mundlos, Stefan.
Afiliação
  • Ehmke N; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address: nadja.ehmke@charite.de.
  • Caliebe A; Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
  • Koenig R; Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main, Germany.
  • Kant SG; Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands.
  • Stark Z; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
  • Cormier-Daire V; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France.
  • Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Gillessen-Kaesbach G; Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany.
  • Hoff K; Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany; Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus K
  • Kawalia A; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
  • Thiele H; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany; Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany.
  • Fischer-Zirnsak B; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Knaus A; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Zhu N; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Heinrich V; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Huber C; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France.
  • Harabula I; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Spielmann M; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Horn D; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Kornak U; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Hecht J; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Krawitz PM; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Co
  • Siebert R; Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
  • Manzke H; Private, 24226 Heikendorf, Germany.
  • Mundlos S; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic a
Am J Hum Genet ; 95(6): 763-70, 2014 Dec 04.
Article em En | MEDLINE | ID: mdl-25480037
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases / Síndrome de Pierre Robin / Deformidades Congênitas da Mão Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases / Síndrome de Pierre Robin / Deformidades Congênitas da Mão Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article