Parental germline mosaicism in SCN3A-related severe developmental disorder.

Saved in:
Bibliographic Details
Title: Parental germline mosaicism in SCN3A-related severe developmental disorder.
Authors: Inuzuka LM; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: lminuzuka@gmail.com., Macedo-Souza LI; Department of Neurology, University of São Paulo School of Medicine, Brazil., Guerra-Peixe M; Department of Neurology, University of São Paulo School of Medicine, Brazil., Cobas Pedreira C; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil., Della-Ripa B; Department of Neurology, University of São Paulo School of Medicine, Brazil., Souza Delgado D; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil., Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil., Garzon E; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil., Kok F; Department of Neurology, University of São Paulo School of Medicine, Brazil; Mendelics Genomic Analysis, São Paulo, Brazil.
Source: Brain & development [Brain Dev] 2021 May; Vol. 43 (5), pp. 669-670. Date of Electronic Publication: 2021 Jan 22.
Publication Type: Letter
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 33494954
AccessLevel: 2
PubType: Editorial & Opinion
PubTypeId: editorialOpinion
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Parental germline mosaicism in SCN3A-related severe developmental disorder.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Inuzuka+LM%22">Inuzuka LM</searchLink>; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: lminuzuka@gmail.com.<br /><searchLink fieldCode="AU" term="%22Macedo-Souza+LI%22">Macedo-Souza LI</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Guerra-Peixe+M%22">Guerra-Peixe M</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Cobas+Pedreira+C%22">Cobas Pedreira C</searchLink>; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Della-Ripa+B%22">Della-Ripa B</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Souza+Delgado+D%22">Souza Delgado D</searchLink>; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Monteiro+F%22">Monteiro F</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Kitajima+JP%22">Kitajima JP</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Garzon+E%22">Garzon E</searchLink>; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil; Mendelics Genomic Analysis, São Paulo, Brazil.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227909235%22">Brain & development</searchLink> [Brain Dev] 2021 May; Vol. 43 (5), pp. 669-670. <i>Date of Electronic Publication: </i>2021 Jan 22.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Letter
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7909235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1872-7131 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203877604%22">03877604 </searchLink><i>NLM ISO Abbreviation: </i>Brain Dev <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33494954
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.braindev.2020.12.013
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 669
    Titles:
      – TitleFull: Parental germline mosaicism in SCN3A-related severe developmental disorder.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Inuzuka LM
      – PersonEntity:
          Name:
            NameFull: Macedo-Souza LI
      – PersonEntity:
          Name:
            NameFull: Guerra-Peixe M
      – PersonEntity:
          Name:
            NameFull: Cobas Pedreira C
      – PersonEntity:
          Name:
            NameFull: Della-Ripa B
      – PersonEntity:
          Name:
            NameFull: Souza Delgado D
      – PersonEntity:
          Name:
            NameFull: Monteiro F
      – PersonEntity:
          Name:
            NameFull: Kitajima JP
      – PersonEntity:
          Name:
            NameFull: Garzon E
      – PersonEntity:
          Name:
            NameFull: Kok F
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2021 May
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1872-7131
          Numbering:
            – Type: volume
              Value: 43
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Brain & development
              Type: main
ResultId 1