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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti, I; Gervasini, C; Pozojevic, J; Graul-Neumann, L; Azzollini, J; Braunholz, D; Watrin, E; Wendt, K S; Cereda, A; Cittaro, D; Gillessen-Kaesbach, G; Lazarevic, D; Mariani, M; Russo, S; Werner, R; Krawitz, P; Larizza, L; Selicorni, A; Kaiser, F J.
Afiliación
  • Parenti I; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Gervasini C; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.
  • Pozojevic J; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Graul-Neumann L; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.
  • Azzollini J; Ambulantes Gesundheitszentrum der Charité Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany.
  • Braunholz D; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Watrin E; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.
  • Wendt KS; Institut de Génétique et Développement de Rennes, Faculté de Médecine, UMR6290-CNRS, Rennes, France.
  • Cereda A; Department of Cell Biology, Erasmus MC, Rotterdam, Netherlands.
  • Cittaro D; A.O. S.Gerardo, U.O.S. Genetica Clinica Pediatrica, Clinica Pediatrica Fondazione MBBM, Monza, Italy.
  • Gillessen-Kaesbach G; Centre for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Milan, Italy.
  • Lazarevic D; Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.
  • Mariani M; Centre for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Milan, Italy.
  • Russo S; A.O. S.Gerardo, U.O.S. Genetica Clinica Pediatrica, Clinica Pediatrica Fondazione MBBM, Monza, Italy.
  • Werner R; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Krawitz P; Department of Paediatrics and Adolescent Medicine, Division of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany.
  • Larizza L; Ambulantes Gesundheitszentrum der Charité Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany.
  • Selicorni A; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Kaiser FJ; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Clin Genet ; 89(1): 74-81, 2016 Jan.
Article en En | MEDLINE | ID: mdl-25652421
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Represoras / Síndrome de Cornelia de Lange / Estudios de Asociación Genética / Exoma Tipo de estudio: Prognostic_studies Límite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Represoras / Síndrome de Cornelia de Lange / Estudios de Asociación Genética / Exoma Tipo de estudio: Prognostic_studies Límite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Italia