View in EDS HTML Full Text PDF Full Text

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Saved in:
Bibliographic Details
Title: Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Authors: Pirozzi F; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Berkseth M; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Shear R; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Gonzalez L; Johns Hopkins University School of Medicine, Baltimore, MD, USA., Timms AE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Sulc J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Pao E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Oyama N; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Forzano F; Department of Clinical Genetics, Guy's and St Thomas NHS Foundation Trust and King's College London, London, UK., Conti V; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy., Doherty ES; Section of Clinical Genetics, Carilion Clinic Children's Hospital, Roanoke, VA, USA., Saitta SC; Division of Medical Genetics, Department of Obstetrics and Gynecology, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, CA, USA., Lockwood CM; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA., Pritchard CC; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA., Dobyns WB; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Novotny E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Wright JNN; Department of Radiology, Seattle Children's Hospital, Seattle, WA, USA., Saneto RP; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA., Friedman S; Center for Clinical and Translational Research, Seattle Children's Hospital, Seattle, WA, USA., Hauptman J; Department of Neurological Surgery, University of Washington, Seattle, WA, USA., Ojemann J; Department of Neurological Surgery, University of Washington, Seattle, WA, USA., Kapur RP; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
Source: Brain : a journal of neurology [Brain] 2022 Apr 29; Vol. 145 (3), pp. 925-938.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain 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: 35355055
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Pirozzi+F%22">Pirozzi F</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Berkseth+M%22">Berkseth M</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Shear+R%22">Shear R</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Gonzalez+L%22">Gonzalez L</searchLink>; Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Timms+AE%22">Timms AE</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Sulc+J%22">Sulc J</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pao+E%22">Pao E</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Oyama+N%22">Oyama N</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Forzano+F%22">Forzano F</searchLink>; Department of Clinical Genetics, Guy's and St Thomas NHS Foundation Trust and King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Conti+V%22">Conti V</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Doherty+ES%22">Doherty ES</searchLink>; Section of Clinical Genetics, Carilion Clinic Children's Hospital, Roanoke, VA, USA.<br /><searchLink fieldCode="AU" term="%22Saitta+SC%22">Saitta SC</searchLink>; Division of Medical Genetics, Department of Obstetrics and Gynecology, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Lockwood+CM%22">Lockwood CM</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pritchard+CC%22">Pritchard CC</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Novotny+E%22">Novotny E</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Wright+JNN%22">Wright JNN</searchLink>; Department of Radiology, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Saneto+RP%22">Saneto RP</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+S%22">Friedman S</searchLink>; Center for Clinical and Translational Research, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hauptman+J%22">Hauptman J</searchLink>; Department of Neurological Surgery, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Ojemann+J%22">Ojemann J</searchLink>; Department of Neurological Surgery, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Kapur+RP%22">Kapur RP</searchLink>; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Mirzaa+GM%22">Mirzaa GM</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2022 Apr 29; Vol. 145 (3), pp. 925-938.
– 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="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35355055
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/brain/awab376
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 925
    Titles:
      – TitleFull: Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Pirozzi F
      – PersonEntity:
          Name:
            NameFull: Berkseth M
      – PersonEntity:
          Name:
            NameFull: Shear R
      – PersonEntity:
          Name:
            NameFull: Gonzalez L
      – PersonEntity:
          Name:
            NameFull: Timms AE
      – PersonEntity:
          Name:
            NameFull: Sulc J
      – PersonEntity:
          Name:
            NameFull: Pao E
      – PersonEntity:
          Name:
            NameFull: Oyama N
      – PersonEntity:
          Name:
            NameFull: Forzano F
      – PersonEntity:
          Name:
            NameFull: Conti V
      – PersonEntity:
          Name:
            NameFull: Guerrini R
      – PersonEntity:
          Name:
            NameFull: Doherty ES
      – PersonEntity:
          Name:
            NameFull: Saitta SC
      – PersonEntity:
          Name:
            NameFull: Lockwood CM
      – PersonEntity:
          Name:
            NameFull: Pritchard CC
      – PersonEntity:
          Name:
            NameFull: Dobyns WB
      – PersonEntity:
          Name:
            NameFull: Novotny E
      – PersonEntity:
          Name:
            NameFull: Wright JNN
      – PersonEntity:
          Name:
            NameFull: Saneto RP
      – PersonEntity:
          Name:
            NameFull: Friedman S
      – PersonEntity:
          Name:
            NameFull: Hauptman J
      – PersonEntity:
          Name:
            NameFull: Ojemann J
      – PersonEntity:
          Name:
            NameFull: Kapur RP
      – PersonEntity:
          Name:
            NameFull: Mirzaa GM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 29
              M: 04
              Text: 2022 Apr 29
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 145
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1