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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S; Camps, Carme; Taylor, Jenny; Carroll, Mary; Loebinger, Michael R; Chalmers, James D; Morris-Rosendahl, Deborah; Mitchison, Hannah M; De Soyza, Anthony; Brown, D; Ambrose, J C; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, C R; Brittain, H; Caulfield, M J; Chan, G C; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, T J P; Jackson, R; Jones, L J; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, S E A; Leong, I U S; Lopez, F J; Maleady-Crowe, F; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A C; O'Donovan, P; Odhams, C A; Patch, C; Perez-Gil, D; Pereira, M B; Pullinger, J.
Afiliação
  • Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK a.shoemark@dundee.ac.uk.
  • Griffin H; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.
  • Wheway G; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.
  • Hogg C; Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.
  • Lucas JS; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.
  • Camps C; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.
  • Taylor J; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Carroll M; Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK.
  • Chalmers JD; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Morris-Rosendahl D; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK.
  • Mitchison HM; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • De Soyza A; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK.
  • Brown D; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.
  • Ambrose JC; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK.
  • Arumugam P; Clinical Genetics and Genomics, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust and NHLI, Imperial College London, London, UK.
  • Bevers R; Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Bleda M; These authors contributed equally to this manuscript.
  • Boardman-Pretty F; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.
  • Boustred CR; These authors contributed equally to this manuscript.
Eur Respir J ; 60(5)2022 11.
Article em En | MEDLINE | ID: mdl-35728977
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bronquiectasia / Síndrome de Kartagener / Transtornos da Motilidade Ciliar / Ciliopatias Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Eur Respir J Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bronquiectasia / Síndrome de Kartagener / Transtornos da Motilidade Ciliar / Ciliopatias Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Eur Respir J Ano de publicação: 2022 Tipo de documento: Article