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142 results

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High risk of lung cancer in surfactant-related gene variant carriers.
Brudon A, Legendre M, Mageau A, Bermudez J, Bonniaud P, Bouvry D, Cadranel J, Cazes A, Crestani B, Dégot T, Delestrain C, Diesler R, Epaud R, Philippot Q, Théou-Anton N, Kannengiesser C, Ba I, Debray MP, Fanen P, Manali E, Papiris S, Nathan N, Amselem S, Gondouin A, Guillaumot A, Andréjak C, Jouneau S, Beltramo G, Uzunhan Y, Galodé F, Westeel V, Mehdaoui A, Hirschi S, Leroy S, Marchand-Adam S, Nunes H, Picard C, Prévot G, Reynaud-Gaubert M, De Vuyst P, Wemeau L, Defossez G, Zalcman G, Cottin V, Borie R; OrphaLung network. Brudon A, et al. Among authors: epaud r. Eur Respir J. 2024 May 2;63(5):2301809. doi: 10.1183/13993003.01809-2023. Print 2024 May. Eur Respir J. 2024. PMID: 38575158 Free PMC article.
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, Nathan N, Marchand-Adam S, Thumerelle C, Fauroux B, Bosdure E, Houdouin V, Delestrain C, Louha M, Couderc R, De Becdelievre A, Fanen P, Funalot B, Crestani B, Deschildre A, Dubus JC, Epaud R. Nattes E, et al. Among authors: epaud r. Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26. Respir Med. 2017. PMID: 28732825 Free article. Clinical Trial.
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.
Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, Lainey E, Legendre M, Plessier A, Sicre de Fontbrune F, Wemeau-Stervinou L, Cottin V, Nathan N, Crestani B. Borie R, et al. Among authors: epaud r. Orphanet J Rare Dis. 2019 Dec 3;14(1):280. doi: 10.1186/s13023-019-1256-5. Orphanet J Rare Dis. 2019. PMID: 31796085 Free PMC article.
Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
Diesler R, Legendre M, Si-Mohamed S, Brillet PY, Wemeau L, Manali ED, Gagnadoux F, Hirschi S, Lorillon G, Reynaud-Gaubert M, Bironneau V, Blanchard E, Bourdin A, Dominique S, Justet A, Macey J, Marchand-Adam S, Morisse-Pradier H, Nunes H, Papiris SA, Traclet J, Traore I, Crestani B, Amselem S, Nathan N, Borie R, Cottin V; OrphaLung network. Diesler R, et al. Respirology. 2024 Apr;29(4):312-323. doi: 10.1111/resp.14667. Epub 2024 Feb 12. Respirology. 2024. PMID: 38345107 Free article.
Pulmonary alveolar proteinosis.
Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, Epaud R, Crestani B. Borie R, et al. Among authors: epaud r. Eur Respir Rev. 2011 Jun;20(120):98-107. doi: 10.1183/09059180.00001311. Eur Respir Rev. 2011. PMID: 21632797 Free PMC article. Review.
[Genetic disorders of surfactant].
Epaud R, Jonard L, Ducou-le-Pointe H, Delestrain C, Fanen P, Guillot L, Flamein F. Epaud R, et al. Arch Pediatr. 2012 Feb;19(2):212-9. doi: 10.1016/j.arcped.2011.12.004. Epub 2012 Jan 9. Arch Pediatr. 2012. PMID: 22236549 Review. French.
Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.
Delestrain C, Aissat A, Nattes E, Gibertini I, Lacroze V, Simon S, Decrouy X, de Becdelièvre A, Fanen P, Epaud R. Delestrain C, et al. Among authors: epaud r. Front Pediatr. 2023 Jan 17;10:978598. doi: 10.3389/fped.2022.978598. eCollection 2022. Front Pediatr. 2023. PMID: 36733766 Free PMC article.
Diagnostic workup of childhood interstitial lung disease.
Nathan N, Griese M, Michel K, Carlens J, Gilbert C, Emiralioglu N, Torrent-Vernetta A, Marczak H, Willemse B, Delestrain C, Epaud R; ERS CRC chILD-EU group. Nathan N, et al. Among authors: epaud r. Eur Respir Rev. 2023 Feb 21;32(167):220188. doi: 10.1183/16000617.0188-2022. Print 2023 Mar 31. Eur Respir Rev. 2023. PMID: 36813289 Free PMC article. Review.
142 results