View in EDS

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Saved in:
Bibliographic Details
Title: The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.
Authors: Tophkhane SS; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada., Akarsu G; Department of Molecular Biology and Biochemistry, Centre for Cell Biology, Development and Disease, Simon Fraser University, 8888 University Drive, Burnaby, BC, V5A 1S6, Canada., Gignac SJ; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada., Xie X; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada., Fu K; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada., Verheyen EM; Department of Molecular Biology and Biochemistry, Centre for Cell Biology, Development and Disease, Simon Fraser University, 8888 University Drive, Burnaby, BC, V5A 1S6, Canada., Richman JM; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada.
Source: Human molecular genetics [Hum Mol Genet] 2026 Jun 06; Vol. 35 (14).
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42424595
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Tophkhane+SS%22">Tophkhane SS</searchLink>; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada.<br /><searchLink fieldCode="AU" term="%22Akarsu+G%22">Akarsu G</searchLink>; Department of Molecular Biology and Biochemistry, Centre for Cell Biology, Development and Disease, Simon Fraser University, 8888 University Drive, Burnaby, BC, V5A 1S6, Canada.<br /><searchLink fieldCode="AU" term="%22Gignac+SJ%22">Gignac SJ</searchLink>; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada.<br /><searchLink fieldCode="AU" term="%22Xie+X%22">Xie X</searchLink>; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada.<br /><searchLink fieldCode="AU" term="%22Fu+K%22">Fu K</searchLink>; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada.<br /><searchLink fieldCode="AU" term="%22Verheyen+EM%22">Verheyen EM</searchLink>; Department of Molecular Biology and Biochemistry, Centre for Cell Biology, Development and Disease, Simon Fraser University, 8888 University Drive, Burnaby, BC, V5A 1S6, Canada.<br /><searchLink fieldCode="AU" term="%22Richman+JM%22">Richman JM</searchLink>; Life Sciences Institute and Faculty of Dentistry, University of British Columbia, 2350 Health Sciences Mall Vancouver, BC, V6T 1Z3, Canada.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2026 Jun 06; Vol. 35 (14).
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42424595
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/hmg/ddag053
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tophkhane SS
      – PersonEntity:
          Name:
            NameFull: Akarsu G
      – PersonEntity:
          Name:
            NameFull: Gignac SJ
      – PersonEntity:
          Name:
            NameFull: Xie X
      – PersonEntity:
          Name:
            NameFull: Fu K
      – PersonEntity:
          Name:
            NameFull: Verheyen EM
      – PersonEntity:
          Name:
            NameFull: Richman JM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 06
              M: 06
              Text: 2026 Jun 06
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2083
          Numbering:
            – Type: volume
              Value: 35
            – Type: issue
              Value: 14
          Titles:
            – TitleFull: Human molecular genetics
              Type: main
ResultId 1