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Management of suspected monogenic lung fibrosis in a specialised centre

Raphael Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani
European Respiratory Review 2017 26: 160122; DOI: 10.1183/16000617.0122-2016
Raphael Borie
1Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France
2DHU FIRE, Hôpital Bichat, APHP, Paris, France
3INSERM, Unité 1152, Paris, France
4Université Paris Diderot, Paris, France
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  • For correspondence: raphael.borie@aphp.fr
Caroline Kannengiesser
4Université Paris Diderot, Paris, France
5Laboratoire de Génétique, APHP, Hôpital Bichat, Paris, France
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Flore Sicre de Fontbrune
6Service d'Hématologie Greffe de Moelle, CMRM Aplasies médullaires, Hôpital Saint Louis, APHP, Paris, France
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Laurent Gouya
4Université Paris Diderot, Paris, France
7Centre Français des Porphyries, Hôpital Louis Mourier, AP-HP, Colombes, France
8Laboratory of Excellence, GR-Ex, Paris, France
9INSERM UMR1149, Paris, France
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Nadia Nathan
10Service de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Armand-Trousseau, APHP, Paris, France
11INSERM Unité Mixte de Recherche S933, Sorbonne Universités, Université Pierre et Marie Curie, Paris, France
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Bruno Crestani
1Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France
2DHU FIRE, Hôpital Bichat, APHP, Paris, France
3INSERM, Unité 1152, Paris, France
4Université Paris Diderot, Paris, France
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Article Information

vol. 26 no. 144
DOI 
https://doi.org/10.1183/16000617.0122-2016
PubMed 
28446600

Published By 
European Respiratory Society
Print ISSN 
0905-9180
Online ISSN 
1600-0617
History 
  • Received December 23, 2016
  • Accepted February 21, 2017
  • Published online April 26, 2017.

Copyright & Usage 
Copyright ©ERS 2017. ERR articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.

Author Information

  1. Raphael Borie1,2,3,4⇑,
  2. Caroline Kannengiesser4,5,
  3. Flore Sicre de Fontbrune6,
  4. Laurent Gouya4,7,8,9,
  5. Nadia Nathan10,11 and
  6. Bruno Crestani1,2,3,4
  1. 1Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France
  2. 2DHU FIRE, Hôpital Bichat, APHP, Paris, France
  3. 3INSERM, Unité 1152, Paris, France
  4. 4Université Paris Diderot, Paris, France
  5. 5Laboratoire de Génétique, APHP, Hôpital Bichat, Paris, France
  6. 6Service d'Hématologie Greffe de Moelle, CMRM Aplasies médullaires, Hôpital Saint Louis, APHP, Paris, France
  7. 7Centre Français des Porphyries, Hôpital Louis Mourier, AP-HP, Colombes, France
  8. 8Laboratory of Excellence, GR-Ex, Paris, France
  9. 9INSERM UMR1149, Paris, France
  10. 10Service de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Armand-Trousseau, APHP, Paris, France
  11. 11INSERM Unité Mixte de Recherche S933, Sorbonne Universités, Université Pierre et Marie Curie, Paris, France
  1. Raphael Borie, Service de pneumologie A, Hôpital Bichat, 46 rue Henri Huchard, 75877 Paris Cedex 18, France. E-mail: raphael.borie{at}aphp.fr
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Funding

  • Chancellerie des Universités de Paris

  • Université Sorbonne Paris Cité

    FPI-SPC
  • Fondation de souffle

  • Roche

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Vol 26 Issue 144 Table of Contents
European Respiratory Review: 26 (144)
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Management of suspected monogenic lung fibrosis in a specialised centre
Raphael Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani
European Respiratory Review Jun 2017, 26 (144) 160122; DOI: 10.1183/16000617.0122-2016

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Management of suspected monogenic lung fibrosis in a specialised centre
Raphael Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani
European Respiratory Review Jun 2017, 26 (144) 160122; DOI: 10.1183/16000617.0122-2016
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  • Article
    • Abstract
    • Abstract
    • Introduction
    • Pulmonary fibrosis associated with genetic mutations
    • Indication for genetic diagnosis
    • Genetic diagnosis and counselling in asymptomatic relatives
    • Genetic multidisciplinary discussion
    • Conclusions
    • Disclosures
    • Footnotes
    • References
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Subjects

  • Respiratory clinical practice
  • Interstitial and orphan lung disease
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