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Phenotypes and genotypes in individuals with SMC1A variants.
Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; Horn, Denise; Isrie, Mala; Jansen, Sandra; Jespersgaard, Cathrine; Kaiser, Frank J; Kaur, Maninder; Kleefstra, Tjitske; Krantz, Ian D; Lakeman, Phillis; Landlust, Annemiek; Lessel, Davor; Michot, Caroline; Moss, Jo; Noon, Sarah E; Oliver, Chris; Parenti, Ilaria; Pie, Juan; Ramos, Feliciano J; Rieubland, Claudine; Russo, Silvia; Selicorni, Angelo; Tümer, Zeynep; Vorstenbosch, Rieneke; Wenger, Tara L; van Balkom, Ingrid; Piening, Sigrid; Wierzba, Jolanta; Hennekam, Raoul C.
Afiliación
  • Huisman S; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Mulder PA; Prinsenstichting Institute, Purmerend, the Netherlands.
  • Redeker E; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.
  • Bader I; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Bisgaard AM; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Brooks A; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
  • Cereda A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Cinca C; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Clark D; División Genetica, Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina.
  • Cormier-Daire V; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Deardorff MA; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, Paris, F
  • Diderich K; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Elting M; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • van Essen A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
  • FitzPatrick D; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
  • Gillessen-Kaesbach G; MRC Human Genetics Unit, IGMM, Western General Hospital, Edinburgh, United Kingdom.
  • Girisha KM; Department of Health Sciences, Medical Genetics, University of Milan, Milan, Italy.
  • Hilhorst-Hofstee Y; Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
  • Hopman S; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Horn D; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Isrie M; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Jansen S; Institut für Medizinische Genetik und Humangenetik, Berlin, Germany.
  • Jespersgaard C; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
  • Kaiser FJ; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Kaur M; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
  • Kleefstra T; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
  • Krantz ID; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Lakeman P; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Landlust A; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Lessel D; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Michot C; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Moss J; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.
  • Noon SE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Oliver C; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, Paris, F
  • Parenti I; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom.
  • Pie J; Institute of Cognitive Neuroscience, University College London, London, United Kingdom.
  • Ramos FJ; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Rieubland C; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom.
  • Russo S; Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
  • Selicorni A; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
  • Tümer Z; Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.
  • Vorstenbosch R; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario "Lozano Blesa" CIBERER-GCV02 and Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.
  • Wenger TL; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • van Balkom I; Molecular Biology Laboratory, Istituto Auxologico Italiano, Milan, Italy.
  • Piening S; UOC Pediatria, ASST Lariana, Como, Italy.
  • Wierzba J; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
  • Hennekam RC; Severinus Institute, Veldhoven, the Netherlands.
Am J Med Genet A ; 173(8): 2108-2125, 2017 Aug.
Article en En | MEDLINE | ID: mdl-28548707
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Proteínas / Síndrome de Rett / Proteínas de Ciclo Celular / Síndrome de Cornelia de Lange Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Europa Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Proteínas / Síndrome de Rett / Proteínas de Ciclo Celular / Síndrome de Cornelia de Lange Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Europa Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos