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Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.

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Title: Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Authors: 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.
Source: American journal of ophthalmology [Am J Ophthalmol] 2019 Nov; Vol. 207, pp. 204-214. Date of Electronic Publication: 2019 May 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
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  Data: <searchLink fieldCode="AU" term="%22Del+Pozo-Valero+M%22">Del Pozo-Valero M</searchLink>; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martin-Merida+I%22">Martin-Merida I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jimenez-Rolando+B%22">Jimenez-Rolando B</searchLink>; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Arteche+A%22">Arteche A</searchLink>; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Avila-Fernandez+A%22">Avila-Fernandez A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Blanco-Kelly+F%22">Blanco-Kelly F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Riveiro-Alvarez+R%22">Riveiro-Alvarez R</searchLink>; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Van+Cauwenbergh+C%22">Van Cauwenbergh C</searchLink>; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Baere+E%22">De Baere E</searchLink>; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Garcia-Sandoval+B%22">Garcia-Sandoval B</searchLink>; Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Corton+M%22">Corton M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; 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.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science%22">Elsevier Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370500 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-1891 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029394%22">00029394 </searchLink><i>NLM ISO Abbreviation: </i>Am J Ophthalmol <i>Subsets: </i>MEDLINE
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