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Page 1
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: beydon n. J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867. J Med Genet. 2012. PMID: 22693285
Analysis of mandibular jaw movements to assess ventilatory support management of children with obstructive sleep apnea syndrome treated with positive airway pressure therapies.
Cassibba J, Aubertin G, Martinot JB, Le Dong N, Hullo E, Beydon N, Dupont-Athénor A, Mortamet G, Pépin JL. Cassibba J, et al. Among authors: beydon n. Pediatr Pulmonol. 2024 Jul;59(7):1905-1911. doi: 10.1002/ppul.27005. Epub 2024 Apr 9. Pediatr Pulmonol. 2024. PMID: 38593278 Clinical Trial.
[Respiratory function testing in infants: recommendations on normal values].
Amsallem F, Gauthier R, Ramonatxo M, Counil F, Voisin M, Denjean A, Matecki S; Groupe des EFR pédiatriques, Société Français de Physiologie. Amsallem F, et al. Rev Mal Respir. 2008 Apr;25(4):405-32. doi: 10.1016/s0761-8425(08)71583-3. Rev Mal Respir. 2008. PMID: 18536627 Review. French.
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S. Merveille AC, et al. Among authors: beydon n. Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131972 Free PMC article.
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S. Kott E, et al. Among authors: beydon n. Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993197 Free PMC article.
111 results