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[Congenital ciliary dyskinesia. Focus].
Tamalet A, Blanchon S. Tamalet A, et al. Among authors: blanchon s. Rev Pneumol Clin. 2013 Aug;69(4):217-24. doi: 10.1016/j.pneumo.2013.05.007. Epub 2013 Jul 17. Rev Pneumol Clin. 2013. PMID: 23871404 Review. French.
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. J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867. J Med Genet. 2012. PMID: 22693285
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.
Papon JF, Bassinet L, Cariou-Patron G, Zerah-Lancner F, Vojtek AM, Blanchon S, Crestani B, Amselem S, Coste A, Housset B, Escudier E, Louis B. Papon JF, et al. Among authors: blanchon s. Orphanet J Rare Dis. 2012 Oct 11;7:78. doi: 10.1186/1750-1172-7-78. Orphanet J Rare Dis. 2012. PMID: 23057704 Free PMC article.
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S. El Khouri E, et al. Among authors: blanchon s. Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022. Am J Hum Genet. 2016. PMID: 27486783 Free PMC article.
Chronic eosinophilic pneumonia in a 13-year-old child.
Nathan N, Guillemot N, Aubertin G, Blanchon S, Chadelat K, Epaud R, Clément A, Fauroux B. Nathan N, et al. Among authors: blanchon s. Eur J Pediatr. 2008 Oct;167(10):1203-7. doi: 10.1007/s00431-007-0648-z. Epub 2008 Jan 17. Eur J Pediatr. 2008. PMID: 18202853
50 results