View in EDS PDF Full Text

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Saved in:
Bibliographic Details
Title: Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
Authors: Santana LS; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Caetano LA; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Costa-Riquetto AD; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Quedas EPS; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Nery M; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Collett-Solberg P; Department of Endocrinology, University of Rio de Janeiro State (UERJ), Rio de Janeiro, RJ, Brazil., Boguszewski MCS; Departamento de Pediatria, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil., Vendramini MF; Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo (HSPE-SP), Sao Paulo, SP, Brazil., Crisostomo LG; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil.; Faculdade de Medicina, Centro Universitário São Camilo, Sao Paulo, SP, Brazil., Floh FO; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil., Zarabia ZI; Serviço de Endocrinologia, Hospital Infantil Dr. Jeser Amarante Faria, Joinville, SC, Brazil., Kohara SK; Serviço de Endocrinologia, Universidade da Região de Joinville (UNIVILLE), Joinville, SC, Brazil., Guastapaglia L; Serviço de Endocrinologia, Hospital do Servidor Público Municipal de São Paulo (HSPM-SP), Sao Paulo, SP, Brazil., Passone CGB; Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, SP, Brazil., Sewaybricker LE; Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil., Jorge AAL; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Teles MG; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.
Source: Clinical genetics [Clin Genet] 2017 Oct; Vol. 92 (4), pp. 388-396. Date of Electronic Publication: 2017 Apr 12.
Publication Type: Journal Article
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
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 28170077
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Santana+LS%22">Santana LS</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Caetano+LA%22">Caetano LA</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Costa-Riquetto+AD%22">Costa-Riquetto AD</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Quedas+EPS%22">Quedas EPS</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Nery+M%22">Nery M</searchLink>; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Collett-Solberg+P%22">Collett-Solberg P</searchLink>; Department of Endocrinology, University of Rio de Janeiro State (UERJ), Rio de Janeiro, RJ, Brazil.<br /><searchLink fieldCode="AU" term="%22Boguszewski+MCS%22">Boguszewski MCS</searchLink>; Departamento de Pediatria, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil.<br /><searchLink fieldCode="AU" term="%22Vendramini+MF%22">Vendramini MF</searchLink>; Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo (HSPE-SP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Crisostomo+LG%22">Crisostomo LG</searchLink>; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil.; Faculdade de Medicina, Centro Universitário São Camilo, Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Floh+FO%22">Floh FO</searchLink>; Serviço de Endocrinologia, Hospital Israelita Albert Eisntein, Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Zarabia+ZI%22">Zarabia ZI</searchLink>; Serviço de Endocrinologia, Hospital Infantil Dr. Jeser Amarante Faria, Joinville, SC, Brazil.<br /><searchLink fieldCode="AU" term="%22Kohara+SK%22">Kohara SK</searchLink>; Serviço de Endocrinologia, Universidade da Região de Joinville (UNIVILLE), Joinville, SC, Brazil.<br /><searchLink fieldCode="AU" term="%22Guastapaglia+L%22">Guastapaglia L</searchLink>; Serviço de Endocrinologia, Hospital do Servidor Público Municipal de São Paulo (HSPM-SP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Passone+CGB%22">Passone CGB</searchLink>; Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Sewaybricker+LE%22">Sewaybricker LE</searchLink>; Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Jorge+AAL%22">Jorge AAL</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Teles+MG%22">Teles MG</searchLink>; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2017 Oct; Vol. 92 (4), pp. 388-396. <i>Date of Electronic Publication: </i>2017 Apr 12.
– 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="%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=28170077
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.12988
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 388
    Titles:
      – TitleFull: Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Santana LS
      – PersonEntity:
          Name:
            NameFull: Caetano LA
      – PersonEntity:
          Name:
            NameFull: Costa-Riquetto AD
      – PersonEntity:
          Name:
            NameFull: Quedas EPS
      – PersonEntity:
          Name:
            NameFull: Nery M
      – PersonEntity:
          Name:
            NameFull: Collett-Solberg P
      – PersonEntity:
          Name:
            NameFull: Boguszewski MCS
      – PersonEntity:
          Name:
            NameFull: Vendramini MF
      – PersonEntity:
          Name:
            NameFull: Crisostomo LG
      – PersonEntity:
          Name:
            NameFull: Floh FO
      – PersonEntity:
          Name:
            NameFull: Zarabia ZI
      – PersonEntity:
          Name:
            NameFull: Kohara SK
      – PersonEntity:
          Name:
            NameFull: Guastapaglia L
      – PersonEntity:
          Name:
            NameFull: Passone CGB
      – PersonEntity:
          Name:
            NameFull: Sewaybricker LE
      – PersonEntity:
          Name:
            NameFull: Jorge AAL
      – PersonEntity:
          Name:
            NameFull: Teles MG
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: 2017 Oct
              Type: published
              Y: 2017
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 92
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1