Faten Talmoudi

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BACKGROUND Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by cutaneous and ocular alterations. Eight genes, Xeroderma Pigmentosum group A (XPA) to Xeroderma Pigmentosum group G (XPG) and Xeroderma Pigmentosum group V (XPV), are known to be responsible for the disease and products of these genes are involved in the repair of(More)
Nizar Ben Halim & Nissaf Ben Alaya Bouafif & Lilia Romdhane & Rym Kefi Ben Atig & Ibtissem Chouchane & Yosra Bouyacoub & Imen Arfa & Wafa Cherif & Sonia Nouira & Faten Talmoudi & Khaled Lasram & Sana Hsouna & Welid Ghazouani & Hela Azaiez & Leila El Matri & Abdelmajid Abid & Neji Tebib & Marie-Françoise Ben Dridi & Salem Kachboura & Ahlem Amouri & Mourad(More)
OBJECTIVES Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders and consider how other factors, such as population substructure and mutation frequency, may be of equal(More)
Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated(More)
Fanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test.(More)
BACKGROUND Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for Fanconi anemia (FA) diagnosis. The aim of the present study was to assess the proportion of FA cases among aplastic anemia (AA) in Tunisian pediatric patients. OBSERVATION Investigation of mitomycin C-induced chromosomal breakage was carried out in 163(More)
Xeroderma pigmentosum (XP, OMIM 278700-278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven complementation groups of XP (XPA to XPG) and XPV. Among them, the XP group C (XP-C) is the most prevalent type in Western Europe and in the United States. We report here on the clinical and genetic(More)
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