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Page 1
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: bigot k. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M. Marchant D, et al. Among authors: bigot k. J Med Genet. 2007 Mar;44(3):e70. doi: 10.1136/jmg.2006.044511. Epub 2007 Feb 7. J Med Genet. 2007. PMID: 17287362 Free PMC article.
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M. Dansault A, et al. Among authors: bigot k. Mol Vis. 2007 Apr 2;13:511-23. Mol Vis. 2007. PMID: 17417613 Free PMC article.
ATM localization and gene expression in the adult mouse eye.
Leemput J, Masson C, Bigot K, Errachid A, Dansault A, Provost A, Gadin S, Aoufouchi S, Menasche M, Abitbol M. Leemput J, et al. Among authors: bigot k. Mol Vis. 2009;15:393-416. Epub 2009 Feb 20. Mol Vis. 2009. PMID: 19234633 Free PMC article.
Sirt1 involvement in rd10 mouse retinal degeneration.
Jaliffa C, Ameqrane I, Dansault A, Leemput J, Vieira V, Lacassagne E, Provost A, Bigot K, Masson C, Menasche M, Abitbol M. Jaliffa C, et al. Among authors: bigot k. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3562-72. doi: 10.1167/iovs.08-2817. Epub 2009 Apr 30. Invest Ophthalmol Vis Sci. 2009. PMID: 19407027
Novel mouse model of monocular amaurosis fugax.
Lelong DC, Bieche I, Perez E, Bigot K, Leemput J, Laurendeau I, Vidaud M, Jais JP, Menasche M, Abitbol M. Lelong DC, et al. Among authors: bigot k. Stroke. 2007 Dec;38(12):3237-44. doi: 10.1161/STROKEAHA.107.499319. Epub 2007 Nov 1. Stroke. 2007. PMID: 17975099
Morphologic and electroretinographic phenotype of SR-BI knockout mice after a long-term atherogenic diet.
Provost AC, Vede L, Bigot K, Keller N, Tailleux A, Jaïs JP, Savoldelli M, Ameqrane I, Lacassagne E, Legeais JM, Staels B, Menasche M, Mallat Z, Behar-Cohen F, Abitbol M. Provost AC, et al. Among authors: bigot k. Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3931-42. doi: 10.1167/iovs.08-2527. Epub 2009 May 6. Invest Ophthalmol Vis Sci. 2009. PMID: 19420333
35 results