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106 results

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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: fanen p. 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.
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Clain J, Lehmann-Che J, Duguépéroux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P. Clain J, et al. Among authors: fanen p. Hum Mutat. 2005 Apr;25(4):360-71. doi: 10.1002/humu.20156. Hum Mutat. 2005. PMID: 15776432
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E. Costa C, et al. Among authors: fanen p. J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23. J Cyst Fibros. 2011. PMID: 21783433 Free article.
[Genetic disorders of surfactant].
Epaud R, Jonard L, Ducou-le-Pointe H, Delestrain C, Fanen P, Guillot L, Flamein F. Epaud R, et al. Among authors: fanen p. 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.
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: fanen p. 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.
106 results