A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
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| Title: | A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29191496 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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