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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M. Mayeur H, et al. Among authors: marsac c. BMC Med Genet. 2006 Apr 28;7:41. doi: 10.1186/1471-2350-7-41. BMC Med Genet. 2006. PMID: 16646960 Free PMC article.
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M. Marchant D, et al. Among authors: marsac c. Ophthalmic Genet. 2002 Sep;23(3):167-74. doi: 10.1076/opge.23.3.167.7880. Ophthalmic Genet. 2002. PMID: 12324875
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: marsac c. 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: marsac c. Mol Vis. 2007 Apr 2;13:511-23. Mol Vis. 2007. PMID: 17417613 Free PMC article.
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M. Camand O, et al. Among authors: marsac c. Hum Mutat. 2001 Apr;17(4):352. doi: 10.1002/humu.38. Hum Mutat. 2001. PMID: 11295837
113 results