View in EDS

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Saved in:
Bibliographic Details
Title: Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Authors: Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. sonja.neuser@medizin.uni-leipzig.de., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schwan A; MVZ Dr. Eberhard & Partner Dortmund, Dortmund, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Döring J; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany., Syrbe S; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany., Plassmann M; Praxis für Pränatalmedizin, Dortmund, Germany., Rohde S; Department of Radiology and Neuroradiology, Klinikum Dortmund, Dortmund, Germany., Roth C; Department for Pediatric Radiology, University of Leipzig Medical Center, Leipzig, Germany., Rehder H; Institute of Medical Genetics, Medical University Vienna, Vienna, Austria.; Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany., Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Le Duc D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bermúdez-Guzmán L; Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica., Leal A; Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica., Schoner K; Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. bernt.popp.md@gmail.com.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 101-110. Date of Electronic Publication: 2021 Oct 25.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 34697416
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. sonja.neuser@medizin.uni-leipzig.de.<br /><searchLink fieldCode="AU" term="%22Krey+I%22">Krey I</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Schwan+A%22">Schwan A</searchLink>; MVZ Dr. Eberhard & Partner Dortmund, Dortmund, Germany.<br /><searchLink fieldCode="AU" term="%22Abou+Jamra+R%22">Abou Jamra R</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Bartolomaeus+T%22">Bartolomaeus T</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Döring+J%22">Döring J</searchLink>; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Syrbe+S%22">Syrbe S</searchLink>; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Plassmann+M%22">Plassmann M</searchLink>; Praxis für Pränatalmedizin, Dortmund, Germany.<br /><searchLink fieldCode="AU" term="%22Rohde+S%22">Rohde S</searchLink>; Department of Radiology and Neuroradiology, Klinikum Dortmund, Dortmund, Germany.<br /><searchLink fieldCode="AU" term="%22Roth+C%22">Roth C</searchLink>; Department for Pediatric Radiology, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Rehder+H%22">Rehder H</searchLink>; Institute of Medical Genetics, Medical University Vienna, Vienna, Austria.; Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany.<br /><searchLink fieldCode="AU" term="%22Radtke+M%22">Radtke M</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Le+Duc+D%22">Le Duc D</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Schubert+S%22">Schubert S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Bermúdez-Guzmán+L%22">Bermúdez-Guzmán L</searchLink>; Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica.<br /><searchLink fieldCode="AU" term="%22Leal+A%22">Leal A</searchLink>; Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica.<br /><searchLink fieldCode="AU" term="%22Schoner+K%22">Schoner K</searchLink>; Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany.<br /><searchLink fieldCode="AU" term="%22Popp+B%22">Popp B</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. bernt.popp.md@gmail.com.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 101-110. <i>Date of Electronic Publication: </i>2021 Oct 25.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34697416
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41431-021-00982-y
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 101
    Titles:
      – TitleFull: Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Neuser S
      – PersonEntity:
          Name:
            NameFull: Krey I
      – PersonEntity:
          Name:
            NameFull: Schwan A
      – PersonEntity:
          Name:
            NameFull: Abou Jamra R
      – PersonEntity:
          Name:
            NameFull: Bartolomaeus T
      – PersonEntity:
          Name:
            NameFull: Döring J
      – PersonEntity:
          Name:
            NameFull: Syrbe S
      – PersonEntity:
          Name:
            NameFull: Plassmann M
      – PersonEntity:
          Name:
            NameFull: Rohde S
      – PersonEntity:
          Name:
            NameFull: Roth C
      – PersonEntity:
          Name:
            NameFull: Rehder H
      – PersonEntity:
          Name:
            NameFull: Radtke M
      – PersonEntity:
          Name:
            NameFull: Le Duc D
      – PersonEntity:
          Name:
            NameFull: Schubert S
      – PersonEntity:
          Name:
            NameFull: Bermúdez-Guzmán L
      – PersonEntity:
          Name:
            NameFull: Leal A
      – PersonEntity:
          Name:
            NameFull: Schoner K
      – PersonEntity:
          Name:
            NameFull: Popp B
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2022 Jan
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1476-5438
          Numbering:
            – Type: volume
              Value: 30
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: European journal of human genetics : EJHG
              Type: main
ResultId 1