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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Balachandar, Srimmitha; Graves, Tamara J; Shimonty, Anika; Kerr, Katie; Kilner, Jill; Xiao, Sihao; Slade, Richard; Sroya, Manveer; Alikian, Mary; Curetean, Emanuel; Thomas, Ellen; McConnell, Vivienne P M; McKee, Shane; Boardman-Pretty, Freya; Devereau, Andrew; Fowler, Tom A; Caulfield, Mark J; Alton, Eric W; Ferguson, Teena; Redhead, Julian; McKnight, Amy J; Thomas, Geraldine A; Aldred, Micheala A; Shovlin, Claire L.
Afiliação
  • Balachandar S; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Graves TJ; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Shimonty A; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Kerr K; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.
  • Kilner J; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.
  • Xiao S; National Heart and Lung Institute, Imperial College London, London, UK.
  • Slade R; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.
  • Sroya M; National Heart and Lung Institute, Imperial College London, London, UK.
  • Alikian M; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.
  • Curetean E; Department of Surgery and Cancer, Imperial College London, London, UK.
  • Thomas E; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.
  • McConnell VPM; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK.
  • McKee S; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK.
  • Boardman-Pretty F; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK.
  • Devereau A; Genomics England, London, UK.
  • Fowler TA; Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, UK.
  • Caulfield MJ; Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, UK.
  • Alton EW; Genomics England, London, UK.
  • Ferguson T; Genomics England, London, UK.
  • Redhead J; Genomics England, London, UK.
  • McKnight AJ; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Thomas GA; Genomics England, London, UK.
  • Aldred MA; National Heart and Lung Institute, Imperial College London, London, UK.
  • Shovlin CL; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.
Am J Med Genet A ; 188(3): 959-964, 2022 03.
Article em En | MEDLINE | ID: mdl-34904380
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformações Arteriovenosas / Telangiectasia Hemorrágica Hereditária Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformações Arteriovenosas / Telangiectasia Hemorrágica Hereditária Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos