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Page 1
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A. Marrakchi S, et al. N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. N Engl J Med. 2011. PMID: 21848462 Free article.
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J. Marrakchi S, et al. J Invest Dermatol. 2003 Mar;120(3):351-5. doi: 10.1046/j.1523-1747.2003.12062.x. J Invest Dermatol. 2003. PMID: 12603845 Free article.
Clinical and laboratory findings in 8 patients with Bloom's syndrome.
Masmoudi A, Marrakchi S, Kamoun H, Chaaben H, Ben Salah G, Ben Salah R, Fakhfakh F, Zahaf A, Turki H. Masmoudi A, et al. Among authors: marrakchi s. J Dermatol Case Rep. 2012 Mar 27;6(1):29-33. doi: 10.3315/jdcr.2012.1086. J Dermatol Case Rep. 2012. PMID: 22514588 Free PMC article.
Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations.
Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Ouragini H, Bchetnia M, Romdhane L, Marrakchi S, Boubaker MS, Castiglia D, Hovnanian A, Abdelhak S, Turki H, Kharfi M. Ben Brick AS, et al. Among authors: marrakchi s. J Eur Acad Dermatol Venereol. 2016 Jan;30(1):155-7. doi: 10.1111/jdv.12645. Epub 2014 Aug 4. J Eur Acad Dermatol Venereol. 2016. PMID: 25088787 No abstract available.
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.
Tauber M, Bal E, Pei XY, Madrange M, Khelil A, Sahel H, Zenati A, Makrelouf M, Boubridaa K, Chiali A, Smahi N, Otsmane F, Bouajar B, Marrakchi S, Turki H, Bourrat E, Viguier M, Hamel Y, Bachelez H, Smahi A. Tauber M, et al. Among authors: marrakchi s. J Invest Dermatol. 2016 Sep;136(9):1811-1819. doi: 10.1016/j.jid.2016.04.038. Epub 2016 May 21. J Invest Dermatol. 2016. PMID: 27220475 Free article. Review.
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J. Heinz L, et al. Among authors: marrakchi s. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. Am J Hum Genet. 2017. PMID: 28575648 Free PMC article.
116 results