View in EDS

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Saved in:
Bibliographic Details
Title: Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Authors: Martin-Merida I; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for 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-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Fernandez-San Jose P; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for 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-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for 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-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Rodriguez-Jacy da Silva L; Universidade de Mogi das Cruzes, São Paulo, Brazil., Almoguera B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States., Garcia-Sandoval B; Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Lopez-Molina MI; Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Avila-Fernandez A; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Carballo M; Molecular Genetics Unit, Hospital de Terrassa, Terrassa, Barcelona, Spain., Corton M; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2017 Feb 01; Vol. 58 (2), pp. 1045-1053.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 28192796
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Martin-Merida+I%22">Martin-Merida I</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sanchez-Alcudia+R%22">Sanchez-Alcudia R</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Fernandez-San+Jose+P%22">Fernandez-San Jose P</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Blanco-Kelly+F%22">Blanco-Kelly F</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Perez-Carro+R%22">Perez-Carro R</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Jacy+da+Silva+L%22">Rodriguez-Jacy da Silva L</searchLink>; Universidade de Mogi das Cruzes, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Almoguera+B%22">Almoguera B</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.<br /><searchLink fieldCode="AU" term="%22Garcia-Sandoval+B%22">Garcia-Sandoval B</searchLink>; Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Lopez-Molina+MI%22">Lopez-Molina MI</searchLink>; Department of Ophthalmology, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Avila-Fernandez+A%22">Avila-Fernandez A</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Carballo+M%22">Carballo M</searchLink>; Molecular Genetics Unit, Hospital de Terrassa, Terrassa, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Corton+M%22">Corton M</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227703701%22">Investigative ophthalmology & visual science</searchLink> [Invest Ophthalmol Vis Sci] 2017 Feb 01; Vol. 58 (2), pp. 1045-1053.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Association+For+Research+In+Vision+And+Ophthalmology+%28Arvo%29%22">Association For Research In Vision And Ophthalmology (Arvo) </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7703701 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-5783 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201460404%22">01460404 </searchLink><i>NLM ISO Abbreviation: </i>Invest Ophthalmol Vis Sci <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28192796
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1167/iovs.16-20515
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1045
    Titles:
      – TitleFull: Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Martin-Merida I
      – PersonEntity:
          Name:
            NameFull: Sanchez-Alcudia R
      – PersonEntity:
          Name:
            NameFull: Fernandez-San Jose P
      – PersonEntity:
          Name:
            NameFull: Blanco-Kelly F
      – PersonEntity:
          Name:
            NameFull: Perez-Carro R
      – PersonEntity:
          Name:
            NameFull: Rodriguez-Jacy da Silva L
      – PersonEntity:
          Name:
            NameFull: Almoguera B
      – PersonEntity:
          Name:
            NameFull: Garcia-Sandoval B
      – PersonEntity:
          Name:
            NameFull: Lopez-Molina MI
      – PersonEntity:
          Name:
            NameFull: Avila-Fernandez A
      – PersonEntity:
          Name:
            NameFull: Carballo M
      – PersonEntity:
          Name:
            NameFull: Corton M
      – PersonEntity:
          Name:
            NameFull: Ayuso C
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: 2017 Feb 01
              Type: published
              Y: 2017
          Identifiers:
            – Type: issn-electronic
              Value: 1552-5783
          Numbering:
            – Type: volume
              Value: 58
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Investigative ophthalmology & visual science
              Type: main
ResultId 1