Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

Saved in:
Bibliographic Details
Title: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Authors: Baquero‐Montoya, C.1, Gil‐Rodríguez, M.C.1, Braunholz, D.2, Teresa‐Rodrigo, M.E.1, Obieglo, C.2, Gener, B.3, Schwarzmayr, T.4, Strom, T.M.5, Gómez‐Puertas, P.6, Puisac, B.1, Gillessen‐Kaesbach, G.7, Musio, A.7, Ramos, F.J.1,8, Kaiser, F.J.2, Pié, J.1
Source: Clinical Genetics. Dec2014, Vol. 86 Issue 6, p595-597. 3p. 1 Graph.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 99541851
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Baquero‐Montoya%2C+C%2E%22">Baquero‐Montoya, C.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Gil‐Rodríguez%2C+M%2EC%2E%22">Gil‐Rodríguez, M.C.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Braunholz%2C+D%2E%22">Braunholz, D.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Teresa‐Rodrigo%2C+M%2EE%2E%22">Teresa‐Rodrigo, M.E.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Obieglo%2C+C%2E%22">Obieglo, C.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Gener%2C+B%2E%22">Gener, B.</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Schwarzmayr%2C+T%2E%22">Schwarzmayr, T.</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Strom%2C+T%2EM%2E%22">Strom, T.M.</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Gómez‐Puertas%2C+P%2E%22">Gómez‐Puertas, P.</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AR" term="%22Puisac%2C+B%2E%22">Puisac, B.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Gillessen‐Kaesbach%2C+G%2E%22">Gillessen‐Kaesbach, G.</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AR" term="%22Musio%2C+A%2E%22">Musio, A.</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AR" term="%22Ramos%2C+F%2EJ%2E%22">Ramos, F.J.</searchLink><relatesTo>1,8</relatesTo><br /><searchLink fieldCode="AR" term="%22Kaiser%2C+F%2EJ%2E%22">Kaiser, F.J.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Pié%2C+J%2E%22">Pié, J.</searchLink><relatesTo>1</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Dec2014, Vol. 86 Issue 6, p595-597. 3p. 1 Graph.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=99541851
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.12333
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 3
        StartPage: 595
    Titles:
      – TitleFull: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Baquero‐Montoya, C.
      – PersonEntity:
          Name:
            NameFull: Gil‐Rodríguez, M.C.
      – PersonEntity:
          Name:
            NameFull: Braunholz, D.
      – PersonEntity:
          Name:
            NameFull: Teresa‐Rodrigo, M.E.
      – PersonEntity:
          Name:
            NameFull: Obieglo, C.
      – PersonEntity:
          Name:
            NameFull: Gener, B.
      – PersonEntity:
          Name:
            NameFull: Schwarzmayr, T.
      – PersonEntity:
          Name:
            NameFull: Strom, T.M.
      – PersonEntity:
          Name:
            NameFull: Gómez‐Puertas, P.
      – PersonEntity:
          Name:
            NameFull: Puisac, B.
      – PersonEntity:
          Name:
            NameFull: Gillessen‐Kaesbach, G.
      – PersonEntity:
          Name:
            NameFull: Musio, A.
      – PersonEntity:
          Name:
            NameFull: Ramos, F.J.
      – PersonEntity:
          Name:
            NameFull: Kaiser, F.J.
      – PersonEntity:
          Name:
            NameFull: Pié, J.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 12
              Text: Dec2014
              Type: published
              Y: 2014
          Identifiers:
            – Type: issn-print
              Value: 00099163
          Numbering:
            – Type: volume
              Value: 86
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Clinical Genetics
              Type: main
ResultId 1