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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Ehmke, Nadja; Graul-Neumann, Luitgard; Smorag, Lukasz; Koenig, Rainer; Segebrecht, Lara; Magoulas, Pilar; Scaglia, Fernando; Kilic, Esra; Hennig, Anna F; Adolphs, Nicolai; Saha, Namrata; Fauler, Beatrix; Kalscheuer, Vera M; Hennig, Friederike; Altmüller, Janine; Netzer, Christian; Thiele, Holger; Nürnberg, Peter; Yigit, Gökhan; Jäger, Marten; Hecht, Jochen; Krüger, Ulrike; Mielke, Thorsten; Krawitz, Peter M; Horn, Denise; Schuelke, Markus; Mundlos, Stefan; Bacino, Carlos A; Bonnen, Penelope E; Wollnik, Bernd; Fischer-Zirnsak, Björn; Kornak, Uwe.
Afiliación
  • Ehmke N; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Institute of Health, 10117 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany. Electronic address: nadja.ehmke@charite.de.
  • Graul-Neumann L; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Smorag L; Institut für Humangenetik, Universitätsmedizin Göttingen, 37073 Göttingen, Germany.
  • Koenig R; Institute of Human Genetics, Goethe University Frankfurt, 60590 Frankfurt am Main, Germany.
  • Segebrecht L; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Kilic E; Pediatric Genetics, Pediatric Hematology Oncology Research &Training Hospital, 06110 Ankara, Turkey.
  • Hennig AF; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Adolphs N; Department of Craniomaxillofacial Surgery, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Saha N; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 B
  • Fauler B; Max Planck Institute for Molecular Genetics, Microscopy and Cryo-electron Microscopy Group, 14195 Berlin, Germany.
  • Kalscheuer VM; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany.
  • Hennig F; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Netzer C; Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50674 Cologne, Germany.
  • Yigit G; Institut für Humangenetik, Universitätsmedizin Göttingen, 37073 Göttingen, Germany.
  • Jäger M; Genomics Core Facility, Campus Virchow Klinikum, Berlin Institute of Health, 13353 Berlin, Germany.
  • Hecht J; Center for Genomic Regulation, Barcelona Institute for Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain; Universitat Pompeu Fabra, 08002 Barcelona, Spain.
  • Krüger U; Genomics Core Facility, Campus Virchow Klinikum, Berlin Institute of Health, 13353 Berlin, Germany.
  • Mielke T; Max Planck Institute for Molecular Genetics, Microscopy and Cryo-electron Microscopy Group, 14195 Berlin, Germany.
  • Krawitz PM; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 B
  • Horn D; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Schuelke M; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.
  • Mundlos S; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 B
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wollnik B; Institut für Humangenetik, Universitätsmedizin Göttingen, 37073 Göttingen, Germany.
  • Fischer-Zirnsak B; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 B
  • Kornak U; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 B
Am J Hum Genet ; 101(5): 833-843, 2017 Nov 02.
Article en En | MEDLINE | ID: mdl-29100093
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas de Unión al Calcio / Antiportadores / Anomalías Craneofaciales / Craneosinostosis / Proteínas Mitocondriales / Conducto Arterioso Permeable / Hipertricosis / Mitocondrias / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Proteínas de Unión al Calcio / Antiportadores / Anomalías Craneofaciales / Craneosinostosis / Proteínas Mitocondriales / Conducto Arterioso Permeable / Hipertricosis / Mitocondrias / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos