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Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA. Manali ED, et al. Among authors: clement a. ERJ Open Res. 2019 Jul 22;5(3):00066-2019. doi: 10.1183/23120541.00066-2019. eCollection 2019 Jul. ERJ Open Res. 2019. PMID: 31360696 Free PMC article.
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S. Duquesnoy P, et al. Among authors: clement a. Am J Hum Genet. 2009 Dec;85(6):890-6. doi: 10.1016/j.ajhg.2009.11.008. Am J Hum Genet. 2009. PMID: 19944405 Free PMC article.
Interstitial lung diseases in children.
Clement A, Nathan N, Epaud R, Fauroux B, Corvol H. Clement A, et al. Orphanet J Rare Dis. 2010 Aug 20;5:22. doi: 10.1186/1750-1172-5-22. Orphanet J Rare Dis. 2010. PMID: 20727133 Free PMC article. Review.
Macrolides: new therapeutic perspectives in lung diseases.
Guillot L, Tabary O, Nathan N, Corvol H, Clement A. Guillot L, et al. Among authors: clement a. Int J Biochem Cell Biol. 2011 Sep;43(9):1241-6. doi: 10.1016/j.biocel.2011.05.009. Epub 2011 May 23. Int J Biochem Cell Biol. 2011. PMID: 21635965 Review.
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L. Flamein F, et al. Among authors: clement a. Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7. Hum Mol Genet. 2012. PMID: 22068586 Free PMC article.
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S. Blanchon S, et al. Among authors: clement a. J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867. J Med Genet. 2012. PMID: 22693285
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S. Kott E, et al. Among authors: clement a. Am J Hum Genet. 2012 Nov 2;91(5):958-64. doi: 10.1016/j.ajhg.2012.10.003. Am J Hum Genet. 2012. PMID: 23122589 Free PMC article.
713 results