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Page 1
Reduction of palmoplantar keratoderma Buschke-Fischer-Brauer locus to only 0.967 Mb.
Mamaï O, Boussofara L, Adala L, Amara A, Ben Charfeddine I, Ghariani N, Sriha B, Denguezli M, Mili A, Belazreg T, Saad A, Gribaa M. Mamaï O, et al. J Dermatol Sci. 2012 Sep;67(3):210-2. doi: 10.1016/j.jdermsci.2012.06.011. Epub 2012 Jul 6. J Dermatol Sci. 2012. PMID: 22789686 No abstract available.
Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.
Mamaï O, Boussofara L, Denguezli M, Escande-Beillard N, Kraeim W, Merriman B, Ben Charfeddine I, Stevanin G, Bouraoui S, Amara A, Mili A, Nouira R, H'mida D, Sriha B, Gribaa M, Saad A, Reversade B. Mamaï O, et al. J Invest Dermatol. 2015 Jan;135(1):304-308. doi: 10.1038/jid.2014.311. Epub 2014 Jul 22. J Invest Dermatol. 2015. PMID: 25050600 Free PMC article. No abstract available.
Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
Ben Charfeddine I, Ben Lazreg T, Ben Rayana N, Amara A, Mamaï O, Knani L, Mili A, M'sakni A, Saad A, Ben Hadj Hamida F, Gribaa M. Ben Charfeddine I, et al. Among authors: mamai o. Ann Biol Clin (Paris). 2015 Jul-Aug;73(4):469-73. doi: 10.1684/abc.2015.1052. Ann Biol Clin (Paris). 2015. PMID: 26411914 Free article.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Pohler E, et al. Among authors: mamai o. Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064416 Free PMC article.
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
Chourabi M, Liew MS, Lim S, H'mida-Ben Brahim D, Boussofara L, Dai L, Wong PM, Foo JN, Sriha B, Robinson KS, Denil S, Common JE, Mamaï O, Ben Khalifa Y, Bollen M, Liu J, Denguezli M, Bonnard C, Saad A, Reversade B. Chourabi M, et al. Among authors: mamai o. J Invest Dermatol. 2018 Feb;138(2):291-300. doi: 10.1016/j.jid.2017.08.045. Epub 2017 Sep 28. J Invest Dermatol. 2018. PMID: 28964717 Free article.
16 results