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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: ouragini h. 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.
Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease.
Nouira S, Arfa I, Kammoun I, Abid A, Ouragini H, Dorboz I, Ghazouani W, Fadhel SB, Zorgati MM, Ammar SB, Blousa-Chabchoub S, Kachboura S, Abdelhak S. Nouira S, et al. Among authors: ouragini h. Diabetes Res Clin Pract. 2010 Feb;87(2):e7-10. doi: 10.1016/j.diabres.2009.11.009. Epub 2009 Dec 22. Diabetes Res Clin Pract. 2010. PMID: 20022652
Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations.
Ouragini H, Cherif F, Brick SA, Nouira S, Floriddia G, Pascucci M, Kefi R, Daoud W, Mahdhaoui N, Kassar S, Mrad R, Kamoun MR, Ben Osman-Dhahri A, Denguezli M, Monastiri K, Seboui H, Mokni M, Boubaker S, Castiglia D, Abdelhak S. Ouragini H, et al. J Dermatol Sci. 2010 Feb;57(2):144-6. doi: 10.1016/j.jdermsci.2009.12.001. Epub 2010 Jan 8. J Dermatol Sci. 2010. PMID: 20060269 No abstract available.
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L. Ouechtati F, et al. Among authors: ouragini h. J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107338
27 results