Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Saved in:
Bibliographic Details
Title: Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Authors: Jacobs EZ; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Brown K; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA., Byler MC; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA., D'haenens E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Dheedene A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Henderson LB; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia, USA., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kanani F; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Lebel RR; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA., Millan F; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Oostra A; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Rhodes L; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Saenz M; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA., Seaver LH; Medical Genetics and Genomics, Spectrum Health Helen Devos Children's Hospital, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA., Si Y; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA., Vanlander A; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium., Vergult S; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.
Source: Clinical genetics [Clin Genet] 2021 Feb; Vol. 99 (2), pp. 259-268. Date of Electronic Publication: 2020 Nov 23.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet 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: 33131045
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Jacobs+EZ%22">Jacobs EZ</searchLink>; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Brown+K%22">Brown K</searchLink>; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Byler+MC%22">Byler MC</searchLink>; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22D'haenens+E%22">D'haenens E</searchLink>; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Dheedene+A%22">Dheedene A</searchLink>; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Henderson+LB%22">Henderson LB</searchLink>; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Humberson+JB%22">Humberson JB</searchLink>; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22van+Jaarsveld+RH%22">van Jaarsveld RH</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kanani+F%22">Kanani F</searchLink>; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Lebel+RR%22">Lebel RR</searchLink>; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Millan+F%22">Millan F</searchLink>; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Oegema+R%22">Oegema R</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oostra+A%22">Oostra A</searchLink>; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Rhodes+L%22">Rhodes L</searchLink>; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Saenz+M%22">Saenz M</searchLink>; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Seaver+LH%22">Seaver LH</searchLink>; Medical Genetics and Genomics, Spectrum Health Helen Devos Children's Hospital, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Si+Y%22">Si Y</searchLink>; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Vanlander+A%22">Vanlander A</searchLink>; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Vergult+S%22">Vergult S</searchLink>; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Callewaert+B%22">Callewaert B</searchLink>; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2021 Feb; Vol. 99 (2), pp. 259-268. <i>Date of Electronic Publication: </i>2020 Nov 23.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33131045
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.13874
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 259
    Titles:
      – TitleFull: Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Jacobs EZ
      – PersonEntity:
          Name:
            NameFull: Brown K
      – PersonEntity:
          Name:
            NameFull: Byler MC
      – PersonEntity:
          Name:
            NameFull: D'haenens E
      – PersonEntity:
          Name:
            NameFull: Dheedene A
      – PersonEntity:
          Name:
            NameFull: Henderson LB
      – PersonEntity:
          Name:
            NameFull: Humberson JB
      – PersonEntity:
          Name:
            NameFull: van Jaarsveld RH
      – PersonEntity:
          Name:
            NameFull: Kanani F
      – PersonEntity:
          Name:
            NameFull: Lebel RR
      – PersonEntity:
          Name:
            NameFull: Millan F
      – PersonEntity:
          Name:
            NameFull: Oegema R
      – PersonEntity:
          Name:
            NameFull: Oostra A
      – PersonEntity:
          Name:
            NameFull: Parker MJ
      – PersonEntity:
          Name:
            NameFull: Rhodes L
      – PersonEntity:
          Name:
            NameFull: Saenz M
      – PersonEntity:
          Name:
            NameFull: Seaver LH
      – PersonEntity:
          Name:
            NameFull: Si Y
      – PersonEntity:
          Name:
            NameFull: Vanlander A
      – PersonEntity:
          Name:
            NameFull: Vergult S
      – PersonEntity:
          Name:
            NameFull: Callewaert B
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: 2021 Feb
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 99
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1