View in EDS HTML Full Text PDF Full Text

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

Saved in:
Bibliographic Details
Title: Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Authors: Giampietro PF; University of Wisconsin-Madison, Madison, Wisconsin., Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jan; Vol. 167A (1), pp. 95-102. Date of Electronic Publication: 2014 Oct 27.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: 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: 25348728
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Giampietro+PF%22">Giampietro PF</searchLink>; University of Wisconsin-Madison, Madison, Wisconsin.<br /><searchLink fieldCode="AU" term="%22Armstrong+L%22">Armstrong L</searchLink><br /><searchLink fieldCode="AU" term="%22Stoddard+A%22">Stoddard A</searchLink><br /><searchLink fieldCode="AU" term="%22Blank+RD%22">Blank RD</searchLink><br /><searchLink fieldCode="AU" term="%22Livingston+J%22">Livingston J</searchLink><br /><searchLink fieldCode="AU" term="%22Raggio+CL%22">Raggio CL</searchLink><br /><searchLink fieldCode="AU" term="%22Rasmussen+K%22">Rasmussen K</searchLink><br /><searchLink fieldCode="AU" term="%22Pickart+M%22">Pickart M</searchLink><br /><searchLink fieldCode="AU" term="%22Lorier+R%22">Lorier R</searchLink><br /><searchLink fieldCode="AU" term="%22Turner+A%22">Turner A</searchLink><br /><searchLink fieldCode="AU" term="%22Sund+S%22">Sund S</searchLink><br /><searchLink fieldCode="AU" term="%22Sobrera+N%22">Sobrera N</searchLink><br /><searchLink fieldCode="AU" term="%22Neptune+E%22">Neptune E</searchLink><br /><searchLink fieldCode="AU" term="%22Sweetser+D%22">Sweetser D</searchLink><br /><searchLink fieldCode="AU" term="%22Santiago-Cornier+A%22">Santiago-Cornier A</searchLink><br /><searchLink fieldCode="AU" term="%22Broeckel+U%22">Broeckel U</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2015 Jan; Vol. 167A (1), pp. 95-102. <i>Date of Electronic Publication: </i>2014 Oct 27.
– 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="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=25348728
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.36799
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 95
    Titles:
      – TitleFull: Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Giampietro PF
      – PersonEntity:
          Name:
            NameFull: Armstrong L
      – PersonEntity:
          Name:
            NameFull: Stoddard A
      – PersonEntity:
          Name:
            NameFull: Blank RD
      – PersonEntity:
          Name:
            NameFull: Livingston J
      – PersonEntity:
          Name:
            NameFull: Raggio CL
      – PersonEntity:
          Name:
            NameFull: Rasmussen K
      – PersonEntity:
          Name:
            NameFull: Pickart M
      – PersonEntity:
          Name:
            NameFull: Lorier R
      – PersonEntity:
          Name:
            NameFull: Turner A
      – PersonEntity:
          Name:
            NameFull: Sund S
      – PersonEntity:
          Name:
            NameFull: Sobrera N
      – PersonEntity:
          Name:
            NameFull: Neptune E
      – PersonEntity:
          Name:
            NameFull: Sweetser D
      – PersonEntity:
          Name:
            NameFull: Santiago-Cornier A
      – PersonEntity:
          Name:
            NameFull: Broeckel U
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2015 Jan
              Type: published
              Y: 2015
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 167A
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1