View in EDS

Loss of function of ADNP by an intragenic inversion.

Saved in:
Bibliographic Details
Title: Loss of function of ADNP by an intragenic inversion.
Authors: Georget M; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France. mathieu.georget@aphp.fr., Lejeune E; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Buratti J; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Servant E; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., le Guern E; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Heron D; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, France., Keren B; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., de Sainte Agathe JM; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 967-970. Date of Electronic Publication: 2023 Feb 24.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 36828924
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Loss of function of ADNP by an intragenic inversion.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Georget+M%22">Georget M</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France. mathieu.georget@aphp.fr.<br /><searchLink fieldCode="AU" term="%22Lejeune+E%22">Lejeune E</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Servant+E%22">Servant E</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22le+Guern+E%22">le Guern E</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Department of Medical Genetics, AP-HP.Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 967-970. <i>Date of Electronic Publication: </i>2023 Feb 24.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36828924
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41431-023-01323-x
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 967
    Titles:
      – TitleFull: Loss of function of ADNP by an intragenic inversion.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Georget M
      – PersonEntity:
          Name:
            NameFull: Lejeune E
      – PersonEntity:
          Name:
            NameFull: Buratti J
      – PersonEntity:
          Name:
            NameFull: Servant E
      – PersonEntity:
          Name:
            NameFull: le Guern E
      – PersonEntity:
          Name:
            NameFull: Heron D
      – PersonEntity:
          Name:
            NameFull: Keren B
      – PersonEntity:
          Name:
            NameFull: de Sainte Agathe JM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: 2023 Aug
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1476-5438
          Numbering:
            – Type: volume
              Value: 31
            – Type: issue
              Value: 8
          Titles:
            – TitleFull: European journal of human genetics : EJHG
              Type: main
ResultId 1