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Mutational analysis of the OA1 gene in ocular albinism.
Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M. Camand O, et al. Among authors: abitbol m. Ophthalmic Genet. 2003 Sep;24(3):167-73. doi: 10.1076/opge.24.3.167.15605. Ophthalmic Genet. 2003. PMID: 12868035
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: abitbol m. BMC Med Genet. 2006 Apr 28;7:41. doi: 10.1186/1471-2350-7-41. BMC Med Genet. 2006. PMID: 16646960 Free PMC article.
Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene.
Schorderet DF, Menasche M, Morand S, Bonnel S, Büchillier V, Marchant D, Auderset K, Bonny C, Abitbol M, Munier FL. Schorderet DF, et al. Among authors: abitbol m. Biochem Biophys Res Commun. 2000 Aug 2;274(2):267-74. doi: 10.1006/bbrc.2000.3116. Biochem Biophys Res Commun. 2000. PMID: 10913330
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: abitbol m. Hum Mutat. 2001 Apr;17(4):352. doi: 10.1002/humu.38. Hum Mutat. 2001. PMID: 11295837
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: abitbol m. 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: abitbol m. 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.
231 results