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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater, E; Floor, K; van Beek, D; de Boer, K; van Dijk, T; Hilhorst-Hofstee, Y; Hoogeboom, A J M; van Kaam, K J; van de Kamp, J M; Kempers, M; Krapels, I P C; Kroes, H Y; Loeys, B; Salemink, S; Stumpel, C T R M; Verhoeven, V J M; Wijnands-van den Berg, E; Cobben, J M; van Tintelen, J P; Weiss, M M; Houweling, A C; Maugeri, A.
Afiliación
  • Overwater E; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: e.overwater@vumc.nl.
  • Floor K; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • van Beek D; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • de Boer K; Department of Cardiology, VU University Medical Center, Amsterdam, The Netherlands.
  • van Dijk T; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Hoogeboom AJM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
  • van Kaam KJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van de Kamp JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Kempers M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Kroes HY; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Loeys B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Salemink S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands.
  • Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Wijnands-van den Berg E; Department of Pediatrics, Medical Center Twente, Enschede, The Netherlands.
  • Cobben JM; Department of Medical Genetics, St George's University Hospital London, London, United Kingdom; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • van Tintelen JP; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Weiss MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Houweling AC; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Maugeri A; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Eur J Med Genet ; 60(9): 465-473, 2017 Sep.
Article en En | MEDLINE | ID: mdl-28642162
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Desplazamiento del Cristalino / Pruebas Genéticas / Análisis de Secuencia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Desplazamiento del Cristalino / Pruebas Genéticas / Análisis de Secuencia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article Pais de publicación: Países Bajos