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Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Del Pozo-Valero, Marta; Martin-Merida, Inmaculada; Jimenez-Rolando, Belen; Arteche, Ana; Avila-Fernandez, Almudena; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Van Cauwenbergh, Caroline; De Baere, Elfride; Rivolta, Carlo; Garcia-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen.
Afiliación
  • Del Pozo-Valero M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.
  • Martin-Merida I; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Jimenez-Rolando B; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.
  • Arteche A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.
  • Avila-Fernandez A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Blanco-Kelly F; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Riveiro-Alvarez R; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.
  • Van Cauwenbergh C; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.
  • Garcia-Sandoval B; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.
  • Corton M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
  • Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. Electronic address: cayuso@fjd.es.
Am J Ophthalmol ; 207: 204-214, 2019 11.
Article en En | MEDLINE | ID: mdl-31129250
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Distrofias Retinianas / Antígeno AC133 / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Ophthalmol Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Distrofias Retinianas / Antígeno AC133 / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Ophthalmol Año: 2019 Tipo del documento: Article