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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: bonafe jl. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
Amos CI, Wang LE, Lee JE, Gershenwald JE, Chen WV, Fang S, Kosoy R, Zhang M, Qureshi AA, Vattathil S, Schacherer CW, Gardner JM, Wang Y, Bishop DT, Barrett JH; GenoMEL Investigators; MacGregor S, Hayward NK, Martin NG, Duffy DL; Q-Mega Investigators; Mann GJ, Cust A, Hopper J; AMFS Investigators; Brown KM, Grimm EA, Xu Y, Han Y, Jing K, McHugh C, Laurie CC, Doheny KF, Pugh EW, Seldin MF, Han J, Wei Q. Amos CI, et al. Hum Mol Genet. 2011 Dec 15;20(24):5012-23. doi: 10.1093/hmg/ddr415. Epub 2011 Sep 17. Hum Mol Genet. 2011. PMID: 21926416 Free PMC article.
The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.
Vabres P, Lacombe D, Rabinowitz LG, Aubert G, Anderson CE, Taieb A, Bonafé JL, Hors-Cayla MC. Vabres P, et al. Among authors: bonafe jl. J Invest Dermatol. 1995 Jul;105(1):87-91. doi: 10.1111/1523-1747.ep12313359. J Invest Dermatol. 1995. PMID: 7615983 Free article.
Cowden's syndrome: possible association with testicular seminoma.
Mazereeuw-Hautier J, Assouère MN, Moreau-Cabarrot A, Longy M, Bonafé JL. Mazereeuw-Hautier J, et al. Among authors: bonafe jl. Br J Dermatol. 2004 Feb;150(2):378-9. doi: 10.1111/j.1365-2133.2003.05770.x. Br J Dermatol. 2004. PMID: 14996122 No abstract available.
[Dietary carotenodermias].
Bonnetblanc JM, Bonafé JL, Vidal E. Bonnetblanc JM, et al. Among authors: bonafe jl. Ann Dermatol Venereol. 1987;114(9):1093-6. Ann Dermatol Venereol. 1987. PMID: 3434946 French.
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.
Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé JL, Paradisi M, Kelsell DP, Ansai Si, Mitsuhashi Y, Larrègue M, Leigh IM, Harper JI, Taïeb A, Prost Yd, Cardon LR, Hovnanian A. Chavanas S, et al. Among authors: bonafe jl. Am J Hum Genet. 2000 Mar;66(3):914-21. doi: 10.1086/302824. Am J Hum Genet. 2000. PMID: 10712206 Free PMC article.
157 results