Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
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| Title: | Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33131045 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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