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Page 1
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O, Rekaya MB, Ouragini H, Benfadhel S, Azaiez H, Kefi R, Gouider-Khouja N, Mokhtar I, Amouri A, Boubaker MS, Zghal M, Abdelhak S. Messaoud O, et al. Among authors: boubaker ms. Arch Dermatol Res. 2012 Mar;304(2):171-6. doi: 10.1007/s00403-011-1190-4. Epub 2011 Nov 12. Arch Dermatol Res. 2012. PMID: 22081045
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. Among authors: boubaker ms. Biomed Res Int. 2013;2013:316286. doi: 10.1155/2013/316286. Epub 2013 Jul 25. Biomed Res Int. 2013. PMID: 23984341 Free PMC article.
Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.
Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H. Ben Brick AS, et al. Among authors: boubaker ms. Arch Dermatol Res. 2014 May;306(4):405-11. doi: 10.1007/s00403-013-1421-y. Epub 2013 Oct 30. Arch Dermatol Res. 2014. PMID: 24170138
The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
Bchetnia M, Bozgia M, Laroussi N, Ben Brick AS, Charfeddine C, Ben Halim N, Mokni M, Boubaker MS, Abdelhak S. Bchetnia M, et al. Among authors: boubaker ms. Int J Dermatol. 2015 Dec;54(12):1426-8. doi: 10.1111/ijd.12373. Epub 2014 Apr 16. Int J Dermatol. 2015. PMID: 24738704 No abstract available.
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. Among authors: boubaker ms. 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.
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: boubaker ms. 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.
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. Among authors: boubaker ms. 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.
35 results