View in EDS HTML Full Text PDF Full Text

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Saved in:
Bibliographic Details
Title: Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Authors: Lesca G; Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France., Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Dec; Vol. 161A (12), pp. 3063-71. Date of Electronic Publication: 2013 Aug 16.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 24039113
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Moizard+MP%22">Moizard MP</searchLink><br /><searchLink fieldCode="AU" term="%22Bussy+G%22">Bussy G</searchLink><br /><searchLink fieldCode="AU" term="%22Boggio+D%22">Boggio D</searchLink><br /><searchLink fieldCode="AU" term="%22Hu+H%22">Hu H</searchLink><br /><searchLink fieldCode="AU" term="%22Haas+SA%22">Haas SA</searchLink><br /><searchLink fieldCode="AU" term="%22Ropers+HH%22">Ropers HH</searchLink><br /><searchLink fieldCode="AU" term="%22Kalscheuer+VM%22">Kalscheuer VM</searchLink><br /><searchLink fieldCode="AU" term="%22Des+Portes+V%22">Des Portes V</searchLink><br /><searchLink fieldCode="AU" term="%22Labalme+A%22">Labalme A</searchLink><br /><searchLink fieldCode="AU" term="%22Sanlaville+D%22">Sanlaville D</searchLink><br /><searchLink fieldCode="AU" term="%22Edery+P%22">Edery P</searchLink><br /><searchLink fieldCode="AU" term="%22Raynaud+M%22">Raynaud M</searchLink><br /><searchLink fieldCode="AU" term="%22Lespinasse+J%22">Lespinasse J</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2013 Dec; Vol. 161A (12), pp. 3063-71. <i>Date of Electronic Publication: </i>2013 Aug 16.
– 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="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=24039113
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.36162
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 3063
    Titles:
      – TitleFull: Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Lesca G
      – PersonEntity:
          Name:
            NameFull: Moizard MP
      – PersonEntity:
          Name:
            NameFull: Bussy G
      – PersonEntity:
          Name:
            NameFull: Boggio D
      – PersonEntity:
          Name:
            NameFull: Hu H
      – PersonEntity:
          Name:
            NameFull: Haas SA
      – PersonEntity:
          Name:
            NameFull: Ropers HH
      – PersonEntity:
          Name:
            NameFull: Kalscheuer VM
      – PersonEntity:
          Name:
            NameFull: Des Portes V
      – PersonEntity:
          Name:
            NameFull: Labalme A
      – PersonEntity:
          Name:
            NameFull: Sanlaville D
      – PersonEntity:
          Name:
            NameFull: Edery P
      – PersonEntity:
          Name:
            NameFull: Raynaud M
      – PersonEntity:
          Name:
            NameFull: Lespinasse J
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 12
              Text: 2013 Dec
              Type: published
              Y: 2013
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 161A
            – Type: issue
              Value: 12
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1