View in EDS HTML Full Text PDF Full Text

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

Saved in:
Bibliographic Details
Title: Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
Authors: Li S; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan., Takada S; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan., Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Issa MY; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Salem AMS; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fukai R; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Medical Science Services, IQVIA Services Japan G.K., Tokyo, Japan., Ohshima T; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan. ohshima@waseda.jp., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp., Miyake N; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan. nomiyake@ri.ncgm.go.jp.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. nomiyake@ri.ncgm.go.jp.
Source: NPJ genomic medicine [NPJ Genom Med] 2024 Nov 05; Vol. 9 (1), pp. 55. Date of Electronic Publication: 2024 Nov 05.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not 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: 39500882
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Li+S%22">Li S</searchLink>; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Takada+S%22">Takada S</searchLink>; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Abdel-Salam+GMH%22">Abdel-Salam GMH</searchLink>; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Hamid+MS%22">Abdel-Hamid MS</searchLink>; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Issa+MY%22">Issa MY</searchLink>; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Salem+AMS%22">Salem AMS</searchLink>; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.<br /><searchLink fieldCode="AU" term="%22Koshimizu+E%22">Koshimizu E</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Fujita+A%22">Fujita A</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Fukai+R%22">Fukai R</searchLink>; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Medical Science Services, IQVIA Services Japan G.K., Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ohshima+T%22">Ohshima T</searchLink>; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan. ohshima@waseda.jp.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.<br /><searchLink fieldCode="AU" term="%22Miyake+N%22">Miyake N</searchLink>; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan. nomiyake@ri.ncgm.go.jp.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. nomiyake@ri.ncgm.go.jp.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2024 Nov 05; Vol. 9 (1), pp. 55. <i>Date of Electronic Publication: </i>2024 Nov 05.
– 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="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39500882
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-024-00437-5
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 55
    Titles:
      – TitleFull: Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Li S
      – PersonEntity:
          Name:
            NameFull: Takada S
      – PersonEntity:
          Name:
            NameFull: Abdel-Salam GMH
      – PersonEntity:
          Name:
            NameFull: Abdel-Hamid MS
      – PersonEntity:
          Name:
            NameFull: Zaki MS
      – PersonEntity:
          Name:
            NameFull: Issa MY
      – PersonEntity:
          Name:
            NameFull: Salem AMS
      – PersonEntity:
          Name:
            NameFull: Koshimizu E
      – PersonEntity:
          Name:
            NameFull: Fujita A
      – PersonEntity:
          Name:
            NameFull: Fukai R
      – PersonEntity:
          Name:
            NameFull: Ohshima T
      – PersonEntity:
          Name:
            NameFull: Matsumoto N
      – PersonEntity:
          Name:
            NameFull: Miyake N
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 05
              M: 11
              Text: 2024 Nov 05
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2056-7944
          Numbering:
            – Type: volume
              Value: 9
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: NPJ genomic medicine
              Type: main
ResultId 1