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Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.
Ben Rekaya M, Jerbi M, Messaoud O, Ben Brick AS, Zghal M, Mbarek C, Chadli-Debbiche A, Jones M, Mokni M, Boussen H, Boubaker MS, Fazaa B, Yacoub-Youssef H, Abdelhak S. Ben Rekaya M, et al. Biomed Res Int. 2013;2013:316286. doi: 10.1155/2013/316286. Epub 2013 Jul 25. Biomed Res Int. 2013. PMID: 23984341 Free PMC article.
A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.
Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H. Ben Rekaya M, et al. Biomed Res Int. 2014;2014:256245. doi: 10.1155/2014/256245. Epub 2014 May 4. Biomed Res Int. 2014. PMID: 24877075 Free PMC article. Clinical Trial.
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia.
Jerbi M, Ben Rekaya M, Naouali C, Jones M, Messaoud O, Tounsi H, Nagara M, Chargui M, Kefi R, Boussen H, Mokni M, Mrad R, Boubaker MS, Abdelhak S, Khaled A, Zghal M, Yacoub-Youssef H. Jerbi M, et al. Br J Dermatol. 2016 Feb;174(2):439-43. doi: 10.1111/bjd.14046. Epub 2015 Nov 26. Br J Dermatol. 2016. PMID: 26211814 No abstract available.
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.
Ben Rekaya M, Naouali C, Messaoud O, Jones M, Bouyacoub Y, Nagara M, Pippucci T, Jmel H, Chargui M, Jerbi M, Alibi M, Dallali H, Bashamboo A, McElreavey K, Romeo G, Barakat A, Zghal M, Yacoub-Youssef H, Abdelhak S. Ben Rekaya M, et al. J Dermatol Sci. 2018 Feb;89(2):172-180. doi: 10.1016/j.jdermsci.2017.10.015. Epub 2017 Nov 2. J Dermatol Sci. 2018. PMID: 29169765
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Sayeb M, Riahi Z, Laroussi N, Bonnet C, Romdhane L, Mkaouar R, Zaouak A, Marrakchi J, Abdessalem G, Messaoud O, Bouchniba O, Ghilane N, Mokni M, Besbes G, Yacoub-Youssef H, Petit C, Abdelhak S. Sayeb M, et al. Int J Dermatol. 2019 Dec;58(12):1439-1443. doi: 10.1111/ijd.14452. Epub 2019 Apr 25. Int J Dermatol. 2019. PMID: 31020658
36 results