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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Parenti, Ilaria; Teresa-Rodrigo, María E; Pozojevic, Jelena; Ruiz Gil, Sara; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pié, Juan; Deardorff, Matthew A; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
Afiliación
  • Parenti I; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
  • Teresa-Rodrigo ME; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, Zaragoza, Spain.
  • Pozojevic J; Unit of Clinical Genetics and Functional Genomics, Department of Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, Zaragoza, Spain.
  • Ruiz Gil S; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
  • Bader I; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
  • Braunholz D; Clinical Genetics Unit, Children's Hospital, Paracelsus Medical University, Salzburg, Austria.
  • Bramswig NC; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
  • Gervasini C; German Cancer Consortium (DKTK), Deutsches Krebsforschungszentrum (DKFZ), Partner Site Berlin, Charité University Hospital Berlin, Berlin, Germany.
  • Larizza L; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Pfeiffer L; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Ozkinay F; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Ramos F; Arztpraxis Medizinische Genetik im Medizin Zentrum Lichtenberg-MZL, Berlin, Germany.
  • Reiz B; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Rittinger O; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Strom TM; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, Zaragoza, Spain.
  • Watrin E; Clinical Genetics Unit, Service of Paediatrics, Hospital "Lozano Blesa" Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
  • Wendt K; Institut für Integrative und Experimentelle Genomik, Universität zu Lübeck, Lübeck, Germany.
  • Wieczorek D; Clinical Genetics Unit, Children's Hospital, Paracelsus Medical University, Salzburg, Austria.
  • Wollnik B; Institute of Human Genetics, Technische Universität München, München, Germany.
  • Baquero-Montoya C; German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Pié J; Faculté de Médecine, Institut de Génétique et Développement de Rennes, Rennes, France.
  • Deardorff MA; Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
  • Gillessen-Kaesbach G; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Kaiser FJ; Institut für Humangenetik, Universität Göttingen, Göttingen, Germany.
Hum Genet ; 136(3): 307-320, 2017 03.
Article en En | MEDLINE | ID: mdl-28120103
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Cromatina / Síndrome de Cornelia de Lange / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Cromatina / Síndrome de Cornelia de Lange / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania