Abdelhak S - Search Results

1

Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway.

Hamdi Y, Jerbi M, Romdhane L, Ben Rekaya M, El Benna H, Chouchane L, Boubaker MS, Abdelhak S, Yacoub-Youssef H. Hamdi Y, et al. Among authors: abdelhak s. DNA Repair (Amst). 2020 Feb;86:102770. doi: 10.1016/j.dnarep.2019.102770. Epub 2019 Dec 12. DNA Repair (Amst). 2020. PMID: 31865061

2

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Sfar S, Abid A, Mahfoudh W, Ouragini H, Ouechtati F, Abdelhak S, Chouchane L. Sfar S, et al. Among authors: abdelhak s. Mol Biol Rep. 2009 Apr;36(4):661-7. doi: 10.1007/s11033-008-9226-3. Epub 2008 Mar 11. Mol Biol Rep. 2009. PMID: 18330718

3

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

4

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

Messaoud O, Ben Rekaya M, Kefi R, Chebel S, Boughammoura-Bouatay A, Bel Hadj Ali H, Gouider-Khouja N, Zili J, Frih-Ayed M, Mokhtar I, Abdelhak S, Zghal M. Messaoud O, et al. Among authors: abdelhak s. Br J Dermatol. 2010 Apr;162(4):883-6. doi: 10.1111/j.1365-2133.2010.09646.x. Epub 2010 Feb 25. Br J Dermatol. 2010. PMID: 20199544

5

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

6

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.

7

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: abdelhak s. 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

8

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Ben Rekaya M, Messaoud O, Mebazaa A, Riahi O, Azaiez H, Kefi R, Zghal M, Boubaker S, Amouri A, Ben Osman-Dhahri A, Abdelhak S, Mokni M. Ben Rekaya M, et al. Among authors: abdelhak s. J Genet. 2011 Dec;90(3):483-7. doi: 10.1007/s12041-011-0101-y. J Genet. 2011. PMID: 22227937 No abstract available.

9

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L, Kefi R, Azaiez H, Ben Halim N, Dellagi K, Abdelhak S. Romdhane L, et al. Among authors: abdelhak s. Orphanet J Rare Dis. 2012 Aug 21;7:52. doi: 10.1186/1750-1172-7-52. Orphanet J Rare Dis. 2012. PMID: 22908982 Free PMC article.

10

Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.

Shan J, Mahfoudh W, Dsouza SP, Hassen E, Bouaouina N, Abdelhak S, Benhadjayed A, Memmi H, Mathew RA, Aigha II, Gabbouj S, Remadi Y, Chouchane L. Shan J, et al. Among authors: abdelhak s. Breast Cancer Res Treat. 2012 Oct;135(3):715-24. doi: 10.1007/s10549-012-2202-6. Epub 2012 Aug 22. Breast Cancer Res Treat. 2012. PMID: 22910930 Free PMC article.

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