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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Fassad, Mahmoud R; Shoemark, Amelia; Legendre, Marie; Hirst, Robert A; Koll, France; le Borgne, Pierrick; Louis, Bruno; Daudvohra, Farheen; Patel, Mitali P; Thomas, Lucie; Dixon, Mellisa; Burgoyne, Thomas; Hayes, Joseph; Nicholson, Andrew G; Cullup, Thomas; Jenkins, Lucy; Carr, Siobhán B; Aurora, Paul; Lemullois, Michel; Aubusson-Fleury, Anne; Papon, Jean-François; O'Callaghan, Christopher; Amselem, Serge; Hogg, Claire; Escudier, Estelle; Tassin, Anne-Marie; Mitchison, Hannah M.
Afiliação
  • Fassad MR; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Human Genetics, Medical Research Institute, Alexandria University, 165 El-Horreya Avenue El-Hadra, 21561 Alexandria, Egypt.
  • Shoemark A; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK; School of Medicine, University of Dundee, Dundee DD2 4BF, UK.
  • Legendre M; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France.
  • Hirst RA; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK.
  • Koll F; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France.
  • le Borgne P; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France.
  • Louis B; INSERM U955, Equipe 13, Faculté de Médecine de Créteil, Université Paris Est, 94010 Créteil, France.
  • Daudvohra F; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Patel MP; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
  • Thomas L; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France.
  • Dixon M; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Burgoyne T; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Hayes J; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK.
  • Nicholson AG; Histopathology Department, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Cullup T; Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
  • Jenkins L; Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
  • Carr SB; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Aurora P; Department of Respiratory, Critical Care and Anaesthesia Unit, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK; Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
  • Lemullois M; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France.
  • Aubusson-Fleury A; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France.
  • Papon JF; Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP, 94275 Le Kremlin-Bicêtre, France.
  • O'Callaghan C; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK; Department of Respiratory, Critical Care and Anaesthesia Unit, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Str
  • Amselem S; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France.
  • Hogg C; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK.
  • Escudier E; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France.
  • Tassin AM; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France.
  • Mitchison HM; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Electronic address: h.mitchison@ucl.ac.uk.
Am J Hum Genet ; 103(6): 984-994, 2018 12 06.
Article em En | MEDLINE | ID: mdl-30471717
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Situs Inversus / Cílios / Dineínas / Dineínas do Axonema / Mutação Limite: Adolescent / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Situs Inversus / Cílios / Dineínas / Dineínas do Axonema / Mutação Limite: Adolescent / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article