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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.
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.
A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndrome.
Valette C, Jonca N, Fischer J, Pernin-Grandjean J, Granier Tournier C, Diociaiuti A, Neri I, Dreyfus I, Furman M, Giehl K, Wollenberg A, Mallet S, Martin L, Martin-Santiago A, Onnis G, Broue P, Leclerc-Mercier S, Schmuth M, Sprecher E, Gruber R, Suessmuth K, Bourrat E, Komlosi K, Hill S, O'Toole EA, Schischmanoff O, Caux F, Mazereeuw-Hautier J; French Pediatric Dermatology Research Group and of the ‘ERN-Skin Network’. Valette C, et al. Among authors: caux f. J Eur Acad Dermatol Venereol. 2023 Oct;37(10):e1237-e1241. doi: 10.1111/jdv.19235. Epub 2023 Jun 20. J Eur Acad Dermatol Venereol. 2023. PMID: 37257069 No abstract available.
Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.
Crivelli L, Bubien V, Jones N, Chiron J, Bonnet F, Barouk-Simonet E, Couzigou P, Sevenet N, Caux F, Longy M. Crivelli L, et al. Among authors: caux f. Eur J Hum Genet. 2017 Sep;25(9):1087-1091. doi: 10.1038/ejhg.2017.81. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513612 Free PMC article.
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network. Bubien V, et al. Among authors: caux f. J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18. J Med Genet. 2013. PMID: 23335809 Free article.
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Bal E, et al. Among authors: caux f. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. Nat Med. 2017. PMID: 28869610 Free article.
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S. Caux F, et al. J Clin Endocrinol Metab. 2003 Mar;88(3):1006-13. doi: 10.1210/jc.2002-021506. J Clin Endocrinol Metab. 2003. PMID: 12629077
182 results