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CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.
Caux F, Selma ZB, Laroche L, Prud'homme JF, Fischer J. Caux F, et al. Am J Med Genet A. 2004 Aug 30;129A(2):214. doi: 10.1002/ajmg.a.30228. Am J Med Genet A. 2004. PMID: 15316960 No abstract available.
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Lefèvre C, et al. Among authors: caux f. Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 Oct 2. Am J Hum Genet. 2001. PMID: 11590543 Free PMC article.
Genome-wide association study identifies three new melanoma susceptibility loci.
Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Dębniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jönsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubiński J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT; GenoMEL Consortium. Barrett JH, et al. Nat Genet. 2011 Oct 9;43(11):1108-13. doi: 10.1038/ng.959. Nat Genet. 2011. PMID: 21983787 Free PMC article.
Diagnosis in France of a Non-Toxigenic tox Gene-Bearing Strain of Corynebacterium diphtheriae in a Young Male Back From Senegal.
Billard-Pomares T, Rouyer C, Walewski V, Badell-Ocando E, Dumas M, Zumelzu C, Jaureguy F, Brisse S, Caux F, Bouchaud O, Carbonnelle E. Billard-Pomares T, et al. Among authors: caux f. Open Forum Infect Dis. 2017 Jan 9;4(1):ofw271. doi: 10.1093/ofid/ofw271. eCollection 2017 Winter. Open Forum Infect Dis. 2017. PMID: 28480263 Free PMC article.
182 results