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Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
Fernandez-San Jose, Patricia; Corton, Marta; Blanco-Kelly, Fiona; Avila-Fernandez, Almudena; Lopez-Martinez, Miguel Angel; Sanchez-Navarro, Iker; Sanchez-Alcudia, Rocio; Perez-Carro, Raquel; Zurita, Olga; Sanchez-Bolivar, Noelia; Lopez-Molina, Maria Isabel; Garcia-Sandoval, Blanca; Riveiro-Alvarez, Rosa; Ayuso, Carmen.
Afiliación
  • Fernandez-San Jose P; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Corton M; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Blanco-Kelly F; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Avila-Fernandez A; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Lopez-Martinez MA; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Sanchez-Navarro I; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Sanchez-Alcudia R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Perez-Carro R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Zurita O; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Sanchez-Bolivar N; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Lopez-Molina MI; Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain 3Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Garcia-Sandoval B; Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain 3Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Riveiro-Alvarez R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Invest Ophthalmol Vis Sci ; 56(4): 2173-82, 2015 Apr.
Article en En | MEDLINE | ID: mdl-25698705
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Retinitis Pigmentosa / Genes Ligados a X / Mutación Tipo de estudio: Diagnostic_studies / Incidence_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2015 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Retinitis Pigmentosa / Genes Ligados a X / Mutación Tipo de estudio: Diagnostic_studies / Incidence_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2015 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos