View in EDS PDF Full Text

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Saved in:
Bibliographic Details
Title: Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Authors: Micale L; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy., Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G
Source: Human mutation [Hum Mutat] 2014 Jul; Vol. 35 (7), pp. 841-50. Date of Electronic Publication: 2014 Apr 09.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 24633898
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Micale+L%22">Micale L</searchLink>; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Augello+B%22">Augello B</searchLink><br /><searchLink fieldCode="AU" term="%22Maffeo+C%22">Maffeo C</searchLink><br /><searchLink fieldCode="AU" term="%22Selicorni+A%22">Selicorni A</searchLink><br /><searchLink fieldCode="AU" term="%22Zucchetti+F%22">Zucchetti F</searchLink><br /><searchLink fieldCode="AU" term="%22Fusco+C%22">Fusco C</searchLink><br /><searchLink fieldCode="AU" term="%22De+Nittis+P%22">De Nittis P</searchLink><br /><searchLink fieldCode="AU" term="%22Pellico+MT%22">Pellico MT</searchLink><br /><searchLink fieldCode="AU" term="%22Mandriani+B%22">Mandriani B</searchLink><br /><searchLink fieldCode="AU" term="%22Fischetto+R%22">Fischetto R</searchLink><br /><searchLink fieldCode="AU" term="%22Boccone+L%22">Boccone L</searchLink><br /><searchLink fieldCode="AU" term="%22Silengo+M%22">Silengo M</searchLink><br /><searchLink fieldCode="AU" term="%22Biamino+E%22">Biamino E</searchLink><br /><searchLink fieldCode="AU" term="%22Perria+C%22">Perria C</searchLink><br /><searchLink fieldCode="AU" term="%22Sotgiu+S%22">Sotgiu S</searchLink><br /><searchLink fieldCode="AU" term="%22Serra+G%22">Serra G</searchLink><br /><searchLink fieldCode="AU" term="%22Lapi+E%22">Lapi E</searchLink><br /><searchLink fieldCode="AU" term="%22Neri+M%22">Neri M</searchLink><br /><searchLink fieldCode="AU" term="%22Ferlini+A%22">Ferlini A</searchLink><br /><searchLink fieldCode="AU" term="%22Cavaliere+ML%22">Cavaliere ML</searchLink><br /><searchLink fieldCode="AU" term="%22Chiurazzi+P%22">Chiurazzi P</searchLink><br /><searchLink fieldCode="AU" term="%22Monica+MD%22">Monica MD</searchLink><br /><searchLink fieldCode="AU" term="%22Scarano+G%22">Scarano G</searchLink><br /><searchLink fieldCode="AU" term="%22Faravelli+F%22">Faravelli F</searchLink><br /><searchLink fieldCode="AU" term="%22Ferrari+P%22">Ferrari P</searchLink><br /><searchLink fieldCode="AU" term="%22Mazzanti+L%22">Mazzanti L</searchLink><br /><searchLink fieldCode="AU" term="%22Pilotta+A%22">Pilotta A</searchLink><br /><searchLink fieldCode="AU" term="%22Patricelli+MG%22">Patricelli MG</searchLink><br /><searchLink fieldCode="AU" term="%22Bedeschi+MF%22">Bedeschi MF</searchLink><br /><searchLink fieldCode="AU" term="%22Benedicenti+F%22">Benedicenti F</searchLink><br /><searchLink fieldCode="AU" term="%22Prontera+P%22">Prontera P</searchLink><br /><searchLink fieldCode="AU" term="%22Toschi+B%22">Toschi B</searchLink><br /><searchLink fieldCode="AU" term="%22Salviati+L%22">Salviati L</searchLink><br /><searchLink fieldCode="AU" term="%22Melis+D%22">Melis D</searchLink><br /><searchLink fieldCode="AU" term="%22Di+Battista+E%22">Di Battista E</searchLink><br /><searchLink fieldCode="AU" term="%22Vancini+A%22">Vancini A</searchLink><br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink><br /><searchLink fieldCode="AU" term="%22Zelante+L%22">Zelante L</searchLink><br /><searchLink fieldCode="AU" term="%22Merla+G%22">Merla G</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2014 Jul; Vol. 35 (7), pp. 841-50. <i>Date of Electronic Publication: </i>2014 Apr 09.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: 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-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=24633898
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/humu.22547
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 841
    Titles:
      – TitleFull: Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Micale L
      – PersonEntity:
          Name:
            NameFull: Augello B
      – PersonEntity:
          Name:
            NameFull: Maffeo C
      – PersonEntity:
          Name:
            NameFull: Selicorni A
      – PersonEntity:
          Name:
            NameFull: Zucchetti F
      – PersonEntity:
          Name:
            NameFull: Fusco C
      – PersonEntity:
          Name:
            NameFull: De Nittis P
      – PersonEntity:
          Name:
            NameFull: Pellico MT
      – PersonEntity:
          Name:
            NameFull: Mandriani B
      – PersonEntity:
          Name:
            NameFull: Fischetto R
      – PersonEntity:
          Name:
            NameFull: Boccone L
      – PersonEntity:
          Name:
            NameFull: Silengo M
      – PersonEntity:
          Name:
            NameFull: Biamino E
      – PersonEntity:
          Name:
            NameFull: Perria C
      – PersonEntity:
          Name:
            NameFull: Sotgiu S
      – PersonEntity:
          Name:
            NameFull: Serra G
      – PersonEntity:
          Name:
            NameFull: Lapi E
      – PersonEntity:
          Name:
            NameFull: Neri M
      – PersonEntity:
          Name:
            NameFull: Ferlini A
      – PersonEntity:
          Name:
            NameFull: Cavaliere ML
      – PersonEntity:
          Name:
            NameFull: Chiurazzi P
      – PersonEntity:
          Name:
            NameFull: Monica MD
      – PersonEntity:
          Name:
            NameFull: Scarano G
      – PersonEntity:
          Name:
            NameFull: Faravelli F
      – PersonEntity:
          Name:
            NameFull: Ferrari P
      – PersonEntity:
          Name:
            NameFull: Mazzanti L
      – PersonEntity:
          Name:
            NameFull: Pilotta A
      – PersonEntity:
          Name:
            NameFull: Patricelli MG
      – PersonEntity:
          Name:
            NameFull: Bedeschi MF
      – PersonEntity:
          Name:
            NameFull: Benedicenti F
      – PersonEntity:
          Name:
            NameFull: Prontera P
      – PersonEntity:
          Name:
            NameFull: Toschi B
      – PersonEntity:
          Name:
            NameFull: Salviati L
      – PersonEntity:
          Name:
            NameFull: Melis D
      – PersonEntity:
          Name:
            NameFull: Di Battista E
      – PersonEntity:
          Name:
            NameFull: Vancini A
      – PersonEntity:
          Name:
            NameFull: Garavelli L
      – PersonEntity:
          Name:
            NameFull: Zelante L
      – PersonEntity:
          Name:
            NameFull: Merla G
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: 2014 Jul
              Type: published
              Y: 2014
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 35
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1