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A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
Salomon J, Espinosa-Parrilla Y, Goulet O, Al-Qabandi W, Guigue P, Canioni D, Bruneau J, Alzahrani F, Almuhsen S, Cerf-Bensussan N, Jeanpierre M, Brousse N, Lyonnet S, Munnich A, Smahi A. Salomon J, et al. Among authors: guigue p. Eur J Med Genet. 2011 May-Jun;54(3):319-22. doi: 10.1016/j.ejmg.2011.01.009. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315192
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.
Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, Boddaert N, Bole-Feysot C, Nitschke P, Smahi A, Munnich A, Colleaux L. Philippe O, et al. Among authors: guigue p. Am J Hum Genet. 2009 Dec;85(6):903-8. doi: 10.1016/j.ajhg.2009.11.007. Am J Hum Genet. 2009. PMID: 20004764 Free PMC article.
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Cluzeau C, et al. Among authors: guigue p. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Hum Mutat. 2011. PMID: 20979233
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. Among authors: guigue p. N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. N Engl J Med. 2011. PMID: 21848462 Free article.
16 results