Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

84 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: duquesnoy p. 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.
Molecular basis of Laron dwarfism.
Amselem S, Duquesnoy P, Goossens M. Amselem S, et al. Among authors: duquesnoy p. Trends Endocrinol Metab. 1991 Jan-Feb;2(1):35-40. doi: 10.1016/1043-2760(91)90059-v. Trends Endocrinol Metab. 1991. PMID: 18411163
Ciliary defects and genetics of primary ciliary dyskinesia.
Escudier E, Duquesnoy P, Papon JF, Amselem S. Escudier E, et al. Among authors: duquesnoy p. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Paediatr Respir Rev. 2009. PMID: 19410201 Free article. Review.
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. 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.
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: duquesnoy p. 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: duquesnoy p. 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.
84 results