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268 results

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Page 1
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: marchant d. BMC Med Genet. 2006 Apr 28;7:41. doi: 10.1186/1471-2350-7-41. BMC Med Genet. 2006. PMID: 16646960 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. 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.
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: marchant d. Hum Mutat. 2001 Apr;17(4):352. doi: 10.1002/humu.38. Hum Mutat. 2001. PMID: 11295837
Mapping of a congenital microcoria locus to 13q31-q32.
Rouillac C, Roche O, Marchant D, Bachner L, Kobetz A, Toulemont PJ, Orssaud C, Urvoy M, Odent S, Le Marec B, Abitbol M, Dufier JL. Rouillac C, et al. Among authors: marchant d. Am J Hum Genet. 1998 May;62(5):1117-22. doi: 10.1086/301841. Am J Hum Genet. 1998. PMID: 9545411 Free PMC article.
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Rouillac C, Aral B, Fouque F, Marchant D, Saudubray JM, Dumez Y, Lindsay G, Abitbol M, Dufier JL, Marsac C, Benelli C. Rouillac C, et al. Among authors: marchant d. Prenat Diagn. 1999 Dec;19(12):1160-4. doi: 10.1002/(sici)1097-0223(199912)19:12<1160::aid-pd712>3.0.co;2-2. Prenat Diagn. 1999. PMID: 10590436
Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis.
Nandrot E, Dufour EM, Provost AC, Péquignot MO, Bonnel S, Gogat K, Marchant D, Rouillac C, Sépulchre de Condé B, Bihoreau MT, Shaver C, Dufier JL, Marsac C, Lathrop M, Menasche M, Abitbol MM. Nandrot E, et al. Among authors: marchant d. Neurobiol Dis. 2000 Dec;7(6 Pt B):586-99. doi: 10.1006/nbdi.2000.0328. Neurobiol Dis. 2000. PMID: 11114258
268 results