View in EDS HTML Full Text PDF Full Text

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Saved in:
Bibliographic Details
Title: Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Authors: Tassano E; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy, eli.tassano@gmail.com., Uccella S; Department of Medical and Surgical Neuroscience and Rehabilitation, University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Neonatolgy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ronchetto P; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Martinheira Da Silva JS; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Viaggi S; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; DISTAV, University of Genoa, Genoa, Italy., Mancardi M; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ramenghi L; Neonatolgy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Murri A; Unità Operativa di Otorinolaringoiatria, Ospedale Guglielmo da Saliceto, Piacenza, Italy., Biondi M; Unità Operativa di Radiologia, Ospedale Guglielmo da Saliceto, Piacenza, Italy., Gimelli G; Laboratory of Cytogenetics, IRCCS Giannina Gaslini, Genoa, Italy., Morerio C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Malacarne M; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Coviello D; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Source: Cytogenetic and genome research [Cytogenet Genome Res] 2022; Vol. 162 (3), pp. 132-139. Date of Electronic Publication: 2022 Jul 27.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res 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: 35896065
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Tassano+E%22">Tassano E</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy, eli.tassano@gmail.com.<br /><searchLink fieldCode="AU" term="%22Uccella+S%22">Uccella S</searchLink>; Department of Medical and Surgical Neuroscience and Rehabilitation, University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Neonatolgy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Ronchetto+P%22">Ronchetto P</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Martinheira+Da+Silva+JS%22">Martinheira Da Silva JS</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Viaggi+S%22">Viaggi S</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; DISTAV, University of Genoa, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Mancardi+M%22">Mancardi M</searchLink>; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Ramenghi+L%22">Ramenghi L</searchLink>; Neonatolgy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Murri+A%22">Murri A</searchLink>; Unità Operativa di Otorinolaringoiatria, Ospedale Guglielmo da Saliceto, Piacenza, Italy.<br /><searchLink fieldCode="AU" term="%22Biondi+M%22">Biondi M</searchLink>; Unità Operativa di Radiologia, Ospedale Guglielmo da Saliceto, Piacenza, Italy.<br /><searchLink fieldCode="AU" term="%22Gimelli+G%22">Gimelli G</searchLink>; Laboratory of Cytogenetics, IRCCS Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Morerio+C%22">Morerio C</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Malacarne+M%22">Malacarne M</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Coviello+D%22">Coviello D</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101142708%22">Cytogenetic and genome research</searchLink> [Cytogenet Genome Res] 2022; Vol. 162 (3), pp. 132-139. <i>Date of Electronic Publication: </i>2022 Jul 27.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101142708 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1424-859X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214248581%22">14248581 </searchLink><i>NLM ISO Abbreviation: </i>Cytogenet Genome Res <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35896065
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1159/000525181
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 132
    Titles:
      – TitleFull: Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tassano E
      – PersonEntity:
          Name:
            NameFull: Uccella S
      – PersonEntity:
          Name:
            NameFull: Ronchetto P
      – PersonEntity:
          Name:
            NameFull: Martinheira Da Silva JS
      – PersonEntity:
          Name:
            NameFull: Viaggi S
      – PersonEntity:
          Name:
            NameFull: Mancardi M
      – PersonEntity:
          Name:
            NameFull: Ramenghi L
      – PersonEntity:
          Name:
            NameFull: Murri A
      – PersonEntity:
          Name:
            NameFull: Biondi M
      – PersonEntity:
          Name:
            NameFull: Gimelli G
      – PersonEntity:
          Name:
            NameFull: Morerio C
      – PersonEntity:
          Name:
            NameFull: Malacarne M
      – PersonEntity:
          Name:
            NameFull: Coviello D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1424-859X
          Numbering:
            – Type: volume
              Value: 162
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Cytogenetic and genome research
              Type: main
ResultId 1