A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

Saved in:
Bibliographic Details
Title: A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
Authors: Jensen M; Bioinformatics and Genomics Program, Pennsylvania State University, University Park, PA, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Simon TJ; Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California Davis, Sacramento, CA, USA; MIND Institute, University of California Davis, Sacramento, CA, USA., Reyniers E; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Girirajan S; Bioinformatics and Genomics Program, Pennsylvania State University, University Park, PA, USA; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA, USA; Department of Anthropology, Pennsylvania State University, University Park, PA, USA., Tassone F; MIND Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, USA. Electronic address: ftassone@ucdavis.edu.
Source: European journal of medical genetics [Eur J Med Genet] 2018 Apr; Vol. 61 (4), pp. 209-212. Date of Electronic Publication: 2017 Nov 28.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 29191496
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Jensen+M%22">Jensen M</searchLink>; Bioinformatics and Genomics Program, Pennsylvania State University, University Park, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kooy+RF%22">Kooy RF</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Simon+TJ%22">Simon TJ</searchLink>; Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California Davis, Sacramento, CA, USA; MIND Institute, University of California Davis, Sacramento, CA, USA.<br /><searchLink fieldCode="AU" term="%22Reyniers+E%22">Reyniers E</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Girirajan+S%22">Girirajan S</searchLink>; Bioinformatics and Genomics Program, Pennsylvania State University, University Park, PA, USA; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA, USA; Department of Anthropology, Pennsylvania State University, University Park, PA, USA.<br /><searchLink fieldCode="AU" term="%22Tassone+F%22">Tassone F</searchLink>; MIND Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, USA. Electronic address: ftassone@ucdavis.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2018 Apr; Vol. 61 (4), pp. 209-212. <i>Date of Electronic Publication: </i>2017 Nov 28.
– 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="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29191496
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ejmg.2017.11.016
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 209
    Titles:
      – TitleFull: A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Jensen M
      – PersonEntity:
          Name:
            NameFull: Kooy RF
      – PersonEntity:
          Name:
            NameFull: Simon TJ
      – PersonEntity:
          Name:
            NameFull: Reyniers E
      – PersonEntity:
          Name:
            NameFull: Girirajan S
      – PersonEntity:
          Name:
            NameFull: Tassone F
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2018 Apr
              Type: published
              Y: 2018
          Identifiers:
            – Type: issn-electronic
              Value: 1878-0849
          Numbering:
            – Type: volume
              Value: 61
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: European journal of medical genetics
              Type: main
ResultId 1