View in EDS HTML Full Text PDF Full Text

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Saved in:
Bibliographic Details
Title: POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Authors: Rossi A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy., Blok LS; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Faivre LO; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France.; Genetics of Developmental Disorders Team, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD, Dijon, France., Weigand H; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany., Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Alfieri P; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Coulter D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Smith L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Vinorum K; Rikshospitalet, Oslo University Hospital, Oslo, Norway., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Naples, Italy.; Scuola Superiore Meridionale, School for Advanced Studies, Naples, Italy., Torun D; Department of Medical Genetics, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey., Arslan M; Department of Pediatric Neurology, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey., Lauridsen MF; Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark., Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Irving R; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Lynch SA; Children's Health Ireland at Crumlin, Dublin 12, Ireland., Mehta SG; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Carmichael J; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., de Vries B; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Westphall IT; Department of Paediatrics, Copenhagen University Hospital, Hvidovre, Denmark., Hughes SS; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA., Smithson S; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Evans J; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol, UK., Dudding-Byth T; NSW Genetics of Learning Disability (GOLD) Service, University of Newcastle, New South Wales, Australia., Simon M; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., van Binsbergen E; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Beunders G; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bakal M; Clinic of Radiology, University of Health Sciences Turkey, Haseki Training and Research Hospital, Istanbul, Turkey., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Institute of Clinical Medicine, Copenhagen University, Copenhagen, Denmark., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Source: Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 186-197. Date of Electronic Publication: 2023 May 10.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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: 37165752
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Rossi+A%22">Rossi A</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Blok+LS%22">Blok LS</searchLink>; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Klöckner+C%22">Klöckner C</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Faivre+LO%22">Faivre LO</searchLink>; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France.; Genetics of Developmental Disorders Team, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Weigand+H%22">Weigand H</searchLink>; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Dentici+ML%22">Dentici ML</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Niceta+M%22">Niceta M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Alfieri+P%22">Alfieri P</searchLink>; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Coulter+D%22">Coulter D</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Smith+L%22">Smith L</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Vinorum+K%22">Vinorum K</searchLink>; Rikshospitalet, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Cappuccio+G%22">Cappuccio G</searchLink>; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Naples, Italy.; Scuola Superiore Meridionale, School for Advanced Studies, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Torun+D%22">Torun D</searchLink>; Department of Medical Genetics, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Arslan+M%22">Arslan M</searchLink>; Department of Pediatric Neurology, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Lauridsen+MF%22">Lauridsen MF</searchLink>; Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.<br /><searchLink fieldCode="AU" term="%22Murch+O%22">Murch O</searchLink>; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Irving+R%22">Irving R</searchLink>; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Children's Health Ireland at Crumlin, Dublin 12, Ireland.<br /><searchLink fieldCode="AU" term="%22Mehta+SG%22">Mehta SG</searchLink>; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Carmichael+J%22">Carmichael J</searchLink>; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Zonneveld-Huijssoon+E%22">Zonneveld-Huijssoon E</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+B%22">de Vries B</searchLink>; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Johannesen+KM%22">Johannesen KM</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Westphall+IT%22">Westphall IT</searchLink>; Department of Paediatrics, Copenhagen University Hospital, Hvidovre, Denmark.<br /><searchLink fieldCode="AU" term="%22Hughes+SS%22">Hughes SS</searchLink>; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Smithson+S%22">Smithson S</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Evans+J%22">Evans J</searchLink>; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Dudding-Byth+T%22">Dudding-Byth T</searchLink>; NSW Genetics of Learning Disability (GOLD) Service, University of Newcastle, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Simon+M%22">Simon M</searchLink>; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Herkert+JC%22">Herkert JC</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oppermann+H%22">Oppermann H</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Bakal+M%22">Bakal M</searchLink>; Clinic of Radiology, University of Health Sciences Turkey, Haseki Training and Research Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Rubboli+G%22">Rubboli G</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Institute of Clinical Medicine, Copenhagen University, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 186-197. <i>Date of Electronic Publication: </i>2023 May 10.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– 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=37165752
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.14353
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 186
    Titles:
      – TitleFull: POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Rossi A
      – PersonEntity:
          Name:
            NameFull: Blok LS
      – PersonEntity:
          Name:
            NameFull: Neuser S
      – PersonEntity:
          Name:
            NameFull: Klöckner C
      – PersonEntity:
          Name:
            NameFull: Platzer K
      – PersonEntity:
          Name:
            NameFull: Faivre LO
      – PersonEntity:
          Name:
            NameFull: Weigand H
      – PersonEntity:
          Name:
            NameFull: Dentici ML
      – PersonEntity:
          Name:
            NameFull: Tartaglia M
      – PersonEntity:
          Name:
            NameFull: Niceta M
      – PersonEntity:
          Name:
            NameFull: Alfieri P
      – PersonEntity:
          Name:
            NameFull: Srivastava S
      – PersonEntity:
          Name:
            NameFull: Coulter D
      – PersonEntity:
          Name:
            NameFull: Smith L
      – PersonEntity:
          Name:
            NameFull: Vinorum K
      – PersonEntity:
          Name:
            NameFull: Cappuccio G
      – PersonEntity:
          Name:
            NameFull: Brunetti-Pierri N
      – PersonEntity:
          Name:
            NameFull: Torun D
      – PersonEntity:
          Name:
            NameFull: Arslan M
      – PersonEntity:
          Name:
            NameFull: Lauridsen MF
      – PersonEntity:
          Name:
            NameFull: Murch O
      – PersonEntity:
          Name:
            NameFull: Irving R
      – PersonEntity:
          Name:
            NameFull: Lynch SA
      – PersonEntity:
          Name:
            NameFull: Mehta SG
      – PersonEntity:
          Name:
            NameFull: Carmichael J
      – PersonEntity:
          Name:
            NameFull: Zonneveld-Huijssoon E
      – PersonEntity:
          Name:
            NameFull: de Vries B
      – PersonEntity:
          Name:
            NameFull: Kleefstra T
      – PersonEntity:
          Name:
            NameFull: Johannesen KM
      – PersonEntity:
          Name:
            NameFull: Westphall IT
      – PersonEntity:
          Name:
            NameFull: Hughes SS
      – PersonEntity:
          Name:
            NameFull: Smithson S
      – PersonEntity:
          Name:
            NameFull: Evans J
      – PersonEntity:
          Name:
            NameFull: Dudding-Byth T
      – PersonEntity:
          Name:
            NameFull: Simon M
      – PersonEntity:
          Name:
            NameFull: van Binsbergen E
      – PersonEntity:
          Name:
            NameFull: Herkert JC
      – PersonEntity:
          Name:
            NameFull: Beunders G
      – PersonEntity:
          Name:
            NameFull: Oppermann H
      – PersonEntity:
          Name:
            NameFull: Bakal M
      – PersonEntity:
          Name:
            NameFull: Møller RS
      – PersonEntity:
          Name:
            NameFull: Rubboli G
      – PersonEntity:
          Name:
            NameFull: Bayat A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: 2023 Aug
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 104
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1