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  1. Article

    Open Access

    A 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...

    Lilia Romdhane, Nessrine Mezzi, Hamza Dallali, Olfa Messaoud… in npj Genomic Medicine (2021)

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  2. Article

    Open Access

    Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations

    The ability to digest lactose after weaning, namely, lactase persistence (LP), is encoded by polymorphisms in the MCM6 gene and varies widely in frequency among different human populations. Although, evolution of...

    Yosra Ben Halima, Rym Kefi, Marco Sazzini, Cristina Giuliani… in Genes & Nutrition (2017)

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  3. Article

    Open Access

    Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

    In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection...

    Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak… in BMC Medical Genetics (2017)

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  4. No Access

    Article

    Consanguinity, endogamy, and genetic disorders in Tunisia

    Nizar Ben Halim, Nissaf Ben Alaya Bouafif, Lilia Romdhane… in Journal of Community Genetics (2013)

  5. Article

    Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients

    Megaloblastic anaemia 1 (MGA1) is a rare autosomal recessive condition characterized by selective intestinal vitamin B12 malabsorption and proteinuria. More than 200 MGA1 patients have been identified worldwid...

    Chiraz Bouchlaka, Chokri Maktouf, Bahri Mahjoub… in Journal of Human Genetics (2007)

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  6. Article

    Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

    Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and fee...

    Cherine Charfeddine, Mourad Mokni, Selma Kassar, Hela Zribi… in Journal of Human Genetics (2006)

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  7. Article

    Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations

    Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically hetero...

    Chiraz Bouchlaka, Sonia Abdelhak, Ahlem Amouri, Hela Ben Abid… in Journal of Human Genetics (2003)

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  8. No Access

    Article

    A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

    A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gen...

    Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig, Sylvie Compain… in Nature Genetics (1997)