View in EDS PDF Full Text

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Saved in:
Bibliographic Details
Title: Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
Authors: Clayton-Smith, Jill1 Jill.Clayton-Smith@cmmc.nhs.uk, Walters, Sarah1, Hobson, Emma2, Burkitt-Wright, Emma1, Smith, Rupert3, Toutain, Annick4, Amiel, Jeanne5, Lyonnet, Stanislas5, Mansour, Sahar6, Fitzpatrick, David7, Ciccone, Roberto8, Ricca, Ivana8,9, Zuffardi, Orsetta8,10, Donnai, Dian1
Source: European Journal of Human Genetics. Apr2009, Vol. 17 Issue 4, p434-443. 10p. 2 Black and White Photographs, 2 Charts.
Database: Academic Search Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 36999864
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Clayton-Smith%2C+Jill%22">Clayton-Smith, Jill</searchLink><relatesTo>1</relatesTo><i> Jill.Clayton-Smith@cmmc.nhs.uk</i><br /><searchLink fieldCode="AR" term="%22Walters%2C+Sarah%22">Walters, Sarah</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Hobson%2C+Emma%22">Hobson, Emma</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Burkitt-Wright%2C+Emma%22">Burkitt-Wright, Emma</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Smith%2C+Rupert%22">Smith, Rupert</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Toutain%2C+Annick%22">Toutain, Annick</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Amiel%2C+Jeanne%22">Amiel, Jeanne</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Lyonnet%2C+Stanislas%22">Lyonnet, Stanislas</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Mansour%2C+Sahar%22">Mansour, Sahar</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AR" term="%22Fitzpatrick%2C+David%22">Fitzpatrick, David</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AR" term="%22Ciccone%2C+Roberto%22">Ciccone, Roberto</searchLink><relatesTo>8</relatesTo><br /><searchLink fieldCode="AR" term="%22Ricca%2C+Ivana%22">Ricca, Ivana</searchLink><relatesTo>8,9</relatesTo><br /><searchLink fieldCode="AR" term="%22Zuffardi%2C+Orsetta%22">Zuffardi, Orsetta</searchLink><relatesTo>8,10</relatesTo><br /><searchLink fieldCode="AR" term="%22Donnai%2C+Dian%22">Donnai, Dian</searchLink><relatesTo>1</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Human+Genetics%22">European Journal of Human Genetics</searchLink>. Apr2009, Vol. 17 Issue 4, p434-443. 10p. 2 Black and White Photographs, 2 Charts.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=36999864
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/ejhg.2008.192
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 10
        StartPage: 434
    Titles:
      – TitleFull: Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Clayton-Smith, Jill
      – PersonEntity:
          Name:
            NameFull: Walters, Sarah
      – PersonEntity:
          Name:
            NameFull: Hobson, Emma
      – PersonEntity:
          Name:
            NameFull: Burkitt-Wright, Emma
      – PersonEntity:
          Name:
            NameFull: Smith, Rupert
      – PersonEntity:
          Name:
            NameFull: Toutain, Annick
      – PersonEntity:
          Name:
            NameFull: Amiel, Jeanne
      – PersonEntity:
          Name:
            NameFull: Lyonnet, Stanislas
      – PersonEntity:
          Name:
            NameFull: Mansour, Sahar
      – PersonEntity:
          Name:
            NameFull: Fitzpatrick, David
      – PersonEntity:
          Name:
            NameFull: Ciccone, Roberto
      – PersonEntity:
          Name:
            NameFull: Ricca, Ivana
      – PersonEntity:
          Name:
            NameFull: Zuffardi, Orsetta
      – PersonEntity:
          Name:
            NameFull: Donnai, Dian
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: Apr2009
              Type: published
              Y: 2009
          Identifiers:
            – Type: issn-print
              Value: 10184813
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: European Journal of Human Genetics
              Type: main
ResultId 1