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Article
Open AccessA map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
Copy number variation (CNV) is considered as the most frequent type of structural variation in the human genome. Some CNVs can act on human phenotype diversity, encompassing rare Mendelian diseases and genomic...
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Article
Open AccessA genome wide SNP genoty** study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
Breast cancer is the most common cancer in women worldwide. Around 50% of breast cancer familial risk has been so far explained by known susceptibility alleles with variable levels of risk and prevalence. The ...
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Article
Open AccessFamily specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics hav...
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Article
c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum
Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway. Eight genes (XPA to XPG and XPV) ar...
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Article
A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation
