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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: duquesnoy p. 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.
[Molecular genetics of growth hormone resistance syndrome].
Amselem S, Duriez B, Duquesnoy P, Sobrier ML, Goossens M. Amselem S, et al. Among authors: duquesnoy p. C R Seances Soc Biol Fil. 1992;186(4):354-62. C R Seances Soc Biol Fil. 1992. PMID: 1301223 Review. French.
Molecular defects in the growth hormone receptor.
Amselem S, Duquesnoy P, Sobrier ML, Goossens M. Amselem S, et al. Among authors: duquesnoy p. Acta Paediatr Scand Suppl. 1991;377:81-6. doi: 10.1111/apa.1991.80.s377.81. Acta Paediatr Scand Suppl. 1991. PMID: 1785318 Review. No abstract available.
Laron dwarfism and mutations of the growth hormone-receptor gene.
Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goossens M. Amselem S, et al. Among authors: duquesnoy p. N Engl J Med. 1989 Oct 12;321(15):989-95. doi: 10.1056/NEJM198910123211501. N Engl J Med. 1989. PMID: 2779634
Molecular genetics of Laron-type GH insensitivity syndrome.
Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Goossens M, et al. Among authors: duquesnoy p. Recent Prog Horm Res. 1993;48:165-78. doi: 10.1016/b978-0-12-571148-7.50010-5. Recent Prog Horm Res. 1993. PMID: 8441847 Review. No abstract available.
84 results