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New surfactant protein C gene mutations associated with diffuse lung disease.
Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D. Guillot L, et al. Among authors: epaud r. J Med Genet. 2009 Jul;46(7):490-4. doi: 10.1136/jmg.2009.066829. Epub 2009 May 13. J Med Genet. 2009. PMID: 19443464 Free article.
Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis.
Mechri M, Epaud R, Emond S, Coulomb A, Jaubert F, Tarrant A, Feldmann D, Flamein F, Clement A, de Blic J, Taam RA, Brunelle F, le Pointe HD. Mechri M, et al. Among authors: epaud r. Pediatr Pulmonol. 2010 Oct;45(10):1021-9. doi: 10.1002/ppul.21289. Pediatr Pulmonol. 2010. PMID: 20658481 Free article.
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: epaud r. 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. 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.
Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
Soysal N, Eyries M, Verlhac S, Escabasse V, Remus N, Tamalet A, Rioux JY, Franchi-Abella S, Vasile M, Robert S, Delestrain C, Hau I, Ducou-Le Pointe H, Soubrier F, Carette MF, Epaud R. Soysal N, et al. Among authors: epaud r. Pediatr Pulmonol. 2017 May;52(5):642-649. doi: 10.1002/ppul.23649. Epub 2017 Feb 6. Pediatr Pulmonol. 2017. PMID: 28165669
142 results