View in EDS PDF Full Text

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Saved in:
Bibliographic Details
Title: Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Authors: Tarilonte M; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain., Morín M; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Ramos P; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain., Galdós M; Department of Ophthalmology, Cruces University Hospital, Bilbao, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Villaverde C; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Rey-Zamora D; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain., Rebolleda G; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain., Muñoz-Negrete FJ; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain., Tahsin-Swafiri S; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Gener B; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetics, BioCruces Health Research Institute, Cruces University Hospital, Bilbao, Spain., Moreno-Pelayo MA; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Ayuso C; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Villamar M; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Corton M; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
Source: Frontiers in genetics [Front Genet] 2018 Oct 17; Vol. 9, pp. 479. Date of Electronic Publication: 2018 Oct 17 (Print Publication: 2018).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 30386378
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Tarilonte+M%22">Tarilonte M</searchLink>; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Morín+M%22">Morín M</searchLink>; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ramos+P%22">Ramos P</searchLink>; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Galdós+M%22">Galdós M</searchLink>; Department of Ophthalmology, Cruces University Hospital, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Blanco-Kelly+F%22">Blanco-Kelly F</searchLink>; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Villaverde+C%22">Villaverde C</searchLink>; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rey-Zamora+D%22">Rey-Zamora D</searchLink>; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rebolleda+G%22">Rebolleda G</searchLink>; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Muñoz-Negrete+FJ%22">Muñoz-Negrete FJ</searchLink>; Department of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Tahsin-Swafiri+S%22">Tahsin-Swafiri S</searchLink>; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gener+B%22">Gener B</searchLink>; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetics, BioCruces Health Research Institute, Cruces University Hospital, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Moreno-Pelayo+MA%22">Moreno-Pelayo MA</searchLink>; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre 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 and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Villamar+M%22">Villamar M</searchLink>; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Corton+M%22">Corton M</searchLink>; Department of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2018 Oct 17; Vol. 9, pp. 479. <i>Date of Electronic Publication: </i>2018 Oct 17 (<i>Print Publication: </i>2018).
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30386378
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3389/fgene.2018.00479
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 479
    Titles:
      – TitleFull: Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tarilonte M
      – PersonEntity:
          Name:
            NameFull: Morín M
      – PersonEntity:
          Name:
            NameFull: Ramos P
      – PersonEntity:
          Name:
            NameFull: Galdós M
      – PersonEntity:
          Name:
            NameFull: Blanco-Kelly F
      – PersonEntity:
          Name:
            NameFull: Villaverde C
      – PersonEntity:
          Name:
            NameFull: Rey-Zamora D
      – PersonEntity:
          Name:
            NameFull: Rebolleda G
      – PersonEntity:
          Name:
            NameFull: Muñoz-Negrete FJ
      – PersonEntity:
          Name:
            NameFull: Tahsin-Swafiri S
      – PersonEntity:
          Name:
            NameFull: Gener B
      – PersonEntity:
          Name:
            NameFull: Moreno-Pelayo MA
      – PersonEntity:
          Name:
            NameFull: Ayuso C
      – PersonEntity:
          Name:
            NameFull: Villamar M
      – PersonEntity:
          Name:
            NameFull: Corton M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 17
              M: 10
              Text: 2018 Oct 17
              Type: published
              Y: 2018
          Identifiers:
            – Type: issn-print
              Value: 1664-8021
          Numbering:
            – Type: volume
              Value: 9
          Titles:
            – TitleFull: Frontiers in genetics
              Type: main
ResultId 1