View in EDS HTML Full Text PDF Full Text

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

Saved in:
Bibliographic Details
Title: IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Authors: Wormser O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Perez Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Dolgin V; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Kamali B; Medical Advisory Committee, United Mashhadi Jewish Community of America, 54 Steamboat Rd., Great Neck, NY, 11024, USA., Tangeman JA; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA., Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Yogev Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Hadar N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Freund O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Drabkin M; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Halperin D; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Irron I; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Grajales-Esquivel E; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA., Del Rio-Tsonis K; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA., Birnbaum RY; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Akler G; TOVANA Health, Houston, TX, USA. gidon.akler@tovanahealth.com.; Precision Medicine Insights, P.C., Great Neck, NY, USA. gidon.akler@tovanahealth.com., Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. obirk@bgu.ac.il.; Genetics Institute, Soroka Medical Center affiliated to Ben-Gurion University of the Negev, Beer-Sheva, Israel. obirk@bgu.ac.il.
Source: NPJ genomic medicine [NPJ Genom Med] 2023 Aug 14; Vol. 8 (1), pp. 22. Date of Electronic Publication: 2023 Aug 14.
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: 37580330
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Wormser+O%22">Wormser O</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Perez+Y%22">Perez Y</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Dolgin+V%22">Dolgin V</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Kamali+B%22">Kamali B</searchLink>; Medical Advisory Committee, United Mashhadi Jewish Community of America, 54 Steamboat Rd., Great Neck, NY, 11024, USA.<br /><searchLink fieldCode="AU" term="%22Tangeman+JA%22">Tangeman JA</searchLink>; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA.<br /><searchLink fieldCode="AU" term="%22Gradstein+L%22">Gradstein L</searchLink>; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Yogev+Y%22">Yogev Y</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Hadar+N%22">Hadar N</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Freund+O%22">Freund O</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Drabkin+M%22">Drabkin M</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Halperin+D%22">Halperin D</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Irron+I%22">Irron I</searchLink>; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Grajales-Esquivel+E%22">Grajales-Esquivel E</searchLink>; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA.<br /><searchLink fieldCode="AU" term="%22Del+Rio-Tsonis+K%22">Del Rio-Tsonis K</searchLink>; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA.<br /><searchLink fieldCode="AU" term="%22Birnbaum+RY%22">Birnbaum RY</searchLink>; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Akler+G%22">Akler G</searchLink>; TOVANA Health, Houston, TX, USA. gidon.akler@tovanahealth.com.; Precision Medicine Insights, P.C., Great Neck, NY, USA. gidon.akler@tovanahealth.com.<br /><searchLink fieldCode="AU" term="%22Birk+OS%22">Birk OS</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. obirk@bgu.ac.il.; Genetics Institute, Soroka Medical Center affiliated to Ben-Gurion University of the Negev, Beer-Sheva, Israel. obirk@bgu.ac.il.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2023 Aug 14; Vol. 8 (1), pp. 22. <i>Date of Electronic Publication: </i>2023 Aug 14.
– 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=37580330
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-023-00364-x
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 22
    Titles:
      – TitleFull: IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Wormser O
      – PersonEntity:
          Name:
            NameFull: Perez Y
      – PersonEntity:
          Name:
            NameFull: Dolgin V
      – PersonEntity:
          Name:
            NameFull: Kamali B
      – PersonEntity:
          Name:
            NameFull: Tangeman JA
      – PersonEntity:
          Name:
            NameFull: Gradstein L
      – PersonEntity:
          Name:
            NameFull: Yogev Y
      – PersonEntity:
          Name:
            NameFull: Hadar N
      – PersonEntity:
          Name:
            NameFull: Freund O
      – PersonEntity:
          Name:
            NameFull: Drabkin M
      – PersonEntity:
          Name:
            NameFull: Halperin D
      – PersonEntity:
          Name:
            NameFull: Irron I
      – PersonEntity:
          Name:
            NameFull: Grajales-Esquivel E
      – PersonEntity:
          Name:
            NameFull: Del Rio-Tsonis K
      – PersonEntity:
          Name:
            NameFull: Birnbaum RY
      – PersonEntity:
          Name:
            NameFull: Akler G
      – PersonEntity:
          Name:
            NameFull: Birk OS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 14
              M: 08
              Text: 2023 Aug 14
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 2056-7944
          Numbering:
            – Type: volume
              Value: 8
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: NPJ genomic medicine
              Type: main
ResultId 1