Abdelhak S - Search Results

1

Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system.

Jandoubi N, Boujemaa M, Mighri N, Mejri N, Ben Nasr S, Bouaziz H, Berrazega Y, Rachdi H, Daoud N, Zribi A, Ayari J, El Benna H, Labidi S, Haddaoui A, Mrad R, Ben Ahmed S, Boussen H, Abdelhak S, Boubaker S, Hamdi Y. Jandoubi N, et al. Among authors: abdelhak s. Transl Oncol. 2024 May;43:101912. doi: 10.1016/j.tranon.2024.101912. Epub 2024 Feb 21. Transl Oncol. 2024. PMID: 38387387 Free PMC article.

2

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.

Ouragini H, Cherif F, Daoud W, Kassar S, Charfeddine C, Rebaï A, Boubaker S, Ben Osman-Dhahri A, Abdelhak S. Ouragini H, et al. Among authors: abdelhak s. Arch Dermatol Res. 2008 Aug;300(7):365-70. doi: 10.1007/s00403-008-0861-2. Epub 2008 May 22. Arch Dermatol Res. 2008. PMID: 18496702

3

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S. Ouragini H, et al. Among authors: abdelhak s. J Dermatol Sci. 2009 May;54(2):114-20. doi: 10.1016/j.jdermsci.2009.01.006. Epub 2009 Mar 3. J Dermatol Sci. 2009. PMID: 19261445

4

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M. Ben Rekaya M, et al. Among authors: abdelhak s. J Hum Genet. 2009 Jul;54(7):426-9. doi: 10.1038/jhg.2009.50. Epub 2009 May 29. J Hum Genet. 2009. PMID: 19478817

5

Histological characterization of Darier's disease in Tunisian families.

Kassar S, Tounsi-Kettiti H, Charfeddine C, Zribi H, Bchetnia M, Jerbi E, Mokni M, Ben Osman A, Abdelhak S, Boubaker S. Kassar S, et al. Among authors: abdelhak s. J Eur Acad Dermatol Venereol. 2009 Oct;23(10):1178-83. doi: 10.1111/j.1468-3083.2009.03283.x. Epub 2009 May 26. J Eur Acad Dermatol Venereol. 2009. PMID: 19486234

6

Clinical and mutational heterogeneity of Darier disease in Tunisian families.

Bchetnia M, Charfeddine C, Kassar S, Zribi H, Guettiti HT, Ellouze F, Cheour M, Boubaker S, Osman AD, Abdelhak S, Mokni M. Bchetnia M, et al. Among authors: abdelhak s. Arch Dermatol. 2009 Jun;145(6):654-6. doi: 10.1001/archdermatol.2009.52. Arch Dermatol. 2009. PMID: 19528419

7

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.

Bchetnia M, Merdassi A, Charfeddine C, Mgaieth F, Kassar S, Ouechtati F, Chouchene I, Boussen H, Mokni M, Osman AD, Boubaker MS, Abdelhak S, Elmatri L. Bchetnia M, et al. Among authors: abdelhak s. J Med Case Rep. 2010 Apr 20;4:108. doi: 10.1186/1752-1947-4-108. J Med Case Rep. 2010. PMID: 20406438 Free PMC article.

8

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.

Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M. Messaoud O, et al. Among authors: abdelhak s. Int J Dermatol. 2010 May;49(5):544-8. doi: 10.1111/j.1365-4632.2010.04421.x. Int J Dermatol. 2010. PMID: 20534089

9

Genetic diseases in the Tunisian population.

Romdhane L, Abdelhak S; Research Unit on Molecular Investigation of Genetic Orphan Diseases; Collaborators. Romdhane L, et al. Among authors: abdelhak s. Am J Med Genet A. 2011 Jan;155A(1):238-67. doi: 10.1002/ajmg.a.33771. Am J Med Genet A. 2011. PMID: 21204241 Review.

10

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.

Bouyacoub Y, Zribi H, Azzouz H, Nasrallah F, Abdelaziz RB, Kacem M, Rekaya B, Messaoud O, Romdhane L, Charfeddine C, Bouziri M, Bouziri S, Tebib N, Mokni M, Kaabachi N, Boubaker S, Abdelhak S. Bouyacoub Y, et al. Among authors: abdelhak s. Gene. 2013 Oct 15;529(1):45-9. doi: 10.1016/j.gene.2013.07.066. Epub 2013 Aug 13. Gene. 2013. PMID: 23954227

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