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Page 1
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J. de Pontual L, et al. Among authors: zaghloul na. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. doi: 10.1073/pnas.0901219106. Epub 2009 Jul 31. Proc Natl Acad Sci U S A. 2009. PMID: 19666486 Free PMC article.
Zebrafish assays of ciliopathies.
Zaghloul NA, Katsanis N. Zaghloul NA, et al. Methods Cell Biol. 2011;105:257-72. doi: 10.1016/B978-0-12-381320-6.00011-4. Methods Cell Biol. 2011. PMID: 21951534 Free PMC article.
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H. Stoetzel C, et al. Among authors: zaghloul na. Am J Hum Genet. 2007 Jan;80(1):1-11. doi: 10.1086/510256. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160889 Free PMC article.
53 results