View in EDS

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Saved in:
Bibliographic Details
Title: International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Authors: Chen B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Whatley S; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Badminton M; Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK., Aarsand AK; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway., Anderson KE; Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA., Bissell DM; Department of Medicine, University of California, San Francisco, CA, USA., Bonkovsky HL; Department of Medicine, Wake Forest University, Winston-Salem, NC, USA., Cappellini MD; Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy., Floderus Y; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Friesema ECH; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disorders, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Gouya L; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France., Harper P; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Kauppinen R; Porphyria Research Unit, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland., Loskove Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Martásek P; First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Phillips JD; Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA., Puy H; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France., Sandberg S; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.; The Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconness Hospital, Bergen Medical Faculty, University of Bergen, Bergen, Norway., Schmitt C; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France., To-Figueras J; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain., Weiss Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Yasuda M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Deybach JC; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France. jc.deybach@me.com., Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. robert.desnick@mssm.edu.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2605-2613. Date of Electronic Publication: 2019 May 10.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 31073229
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Chen+B%22">Chen B</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Whatley+S%22">Whatley S</searchLink>; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Badminton+M%22">Badminton M</searchLink>; Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Aarsand+AK%22">Aarsand AK</searchLink>; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Anderson+KE%22">Anderson KE</searchLink>; Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Bissell+DM%22">Bissell DM</searchLink>; Department of Medicine, University of California, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bonkovsky+HL%22">Bonkovsky HL</searchLink>; Department of Medicine, Wake Forest University, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Cappellini+MD%22">Cappellini MD</searchLink>; Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Floderus+Y%22">Floderus Y</searchLink>; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Friesema+ECH%22">Friesema ECH</searchLink>; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disorders, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gouya+L%22">Gouya L</searchLink>; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France.<br /><searchLink fieldCode="AU" term="%22Harper+P%22">Harper P</searchLink>; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Kauppinen+R%22">Kauppinen R</searchLink>; Porphyria Research Unit, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Loskove+Y%22">Loskove Y</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Martásek+P%22">Martásek P</searchLink>; First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Phillips+JD%22">Phillips JD</searchLink>; Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Puy+H%22">Puy H</searchLink>; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sandberg+S%22">Sandberg S</searchLink>; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.; The Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconness Hospital, Bergen Medical Faculty, University of Bergen, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Schmitt+C%22">Schmitt C</searchLink>; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France.<br /><searchLink fieldCode="AU" term="%22To-Figueras+J%22">To-Figueras J</searchLink>; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Weiss+Y%22">Weiss Y</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Yasuda+M%22">Yasuda M</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Deybach+JC%22">Deybach JC</searchLink>; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France. jc.deybach@me.com.<br /><searchLink fieldCode="AU" term="%22Desnick+RJ%22">Desnick RJ</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. robert.desnick@mssm.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2605-2613. <i>Date of Electronic Publication: </i>2019 May 10.
– 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="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31073229
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41436-019-0537-7
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2605
    Titles:
      – TitleFull: International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Chen B
      – PersonEntity:
          Name:
            NameFull: Whatley S
      – PersonEntity:
          Name:
            NameFull: Badminton M
      – PersonEntity:
          Name:
            NameFull: Aarsand AK
      – PersonEntity:
          Name:
            NameFull: Anderson KE
      – PersonEntity:
          Name:
            NameFull: Bissell DM
      – PersonEntity:
          Name:
            NameFull: Bonkovsky HL
      – PersonEntity:
          Name:
            NameFull: Cappellini MD
      – PersonEntity:
          Name:
            NameFull: Floderus Y
      – PersonEntity:
          Name:
            NameFull: Friesema ECH
      – PersonEntity:
          Name:
            NameFull: Gouya L
      – PersonEntity:
          Name:
            NameFull: Harper P
      – PersonEntity:
          Name:
            NameFull: Kauppinen R
      – PersonEntity:
          Name:
            NameFull: Loskove Y
      – PersonEntity:
          Name:
            NameFull: Martásek P
      – PersonEntity:
          Name:
            NameFull: Phillips JD
      – PersonEntity:
          Name:
            NameFull: Puy H
      – PersonEntity:
          Name:
            NameFull: Sandberg S
      – PersonEntity:
          Name:
            NameFull: Schmitt C
      – PersonEntity:
          Name:
            NameFull: To-Figueras J
      – PersonEntity:
          Name:
            NameFull: Weiss Y
      – PersonEntity:
          Name:
            NameFull: Yasuda M
      – PersonEntity:
          Name:
            NameFull: Deybach JC
      – PersonEntity:
          Name:
            NameFull: Desnick RJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: 2019 Nov
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 21
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1