Search Results - "Romdhane, Lilia"

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    Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity by Romdhane, Lilia, Kefi, Sameh, Mezzi, Nessrine, Abassi, Najla, Jmel, Haifa, Romdhane, Safa, Shan, Jingxuan, Chouchane, Lotfi, Abdelhak, Sonia

    Published in Scientific reports (26-02-2024)
    “…Admixture mapping has been useful in identifying genetic variations linked to phenotypes, adaptation and diseases. Copy number variations (CNVs) represents…”
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    Journal Article
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    Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East by Romdhane, Lilia, Kefi, Rym, Azaiez, Hela, Ben Halim, Nizar, Dellagi, Koussay, Abdelhak, Sonia

    Published in Orphanet journal of rare diseases (21-08-2012)
    “…Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the…”
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    Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations by Jmel, Haifa, Romdhane, Lilia, Ben Halima, Yosra, Hechmi, Meriem, Naouali, Chokri, Dallali, Hamza, Hamdi, Yosr, Shan, Jingxuan, Abid, Abdelmajid, Jamoussi, Henda, Trabelsi, Sameh, Chouchane, Lotfi, Luiselli, Donata, Abdelhak, Sonia, Kefi, Rym

    Published in PloS one (13-04-2018)
    “…Genetic variation is an important determinant affecting either drug response or susceptibility to adverse drug reactions. Several studies have highlighted the…”
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    A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci by Hamdi, Yosr, Ben Rekaya, Mariem, Jingxuan, Shan, Nagara, Majdi, Messaoud, Olfa, Benammar Elgaaied, Amel, Mrad, Ridha, Chouchane, Lotfi, Boubaker, Mohamed Samir, Abdelhak, Sonia, Boussen, Hamouda, Romdhane, Lilia

    Published in BMC cancer (29-12-2018)
    “…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…”
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    A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa by Romdhane, Lilia, Mezzi, Nessrine, Dallali, Hamza, Messaoud, Olfa, Shan, Jingxuan, Fakhro, Khalid A., Kefi, Rym, Chouchane, Lotfi, Abdelhak, Sonia

    Published in Npj genomic medicine (08-01-2021)
    “…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…”
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    Consanguinity and Inbreeding in Health and Disease in North African Populations by Romdhane, Lilia, Mezzi, Nessrine, Hamdi, Yosr, El-Kamah, Ghada, Barakat, Abdelhamid, Abdelhak, Sonia

    “…North Africa is defined as the geographical region separated from the rest of the continent by the Sahara and from Europe by the Mediterranean Sea. The main…”
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    Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing by Mezzi, Nessrine, Zaouak, Anissa, Mkaouar, Rahma, Kacem, Imen, Gouider, Riadh, Fenniche, Samy, Mrad, Ridha, Abdelhak, Sonia, Romdhane, Lilia

    Published in Gene (30-03-2024)
    “…Elevated rates of consanguinity and inbreeding are responsible for the high prevalence of recessively inherited diseases among inbred populations including…”
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    The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach by Romdhane, Lilia, Bouhamed, Heni, Ghedira, Kais, Ben Hamda, Cherif, Louhichi, Amel, Jmel, Haifa, Romdhane, Safa, Charfeddine, Chérine, Mokni, Mourad, Abdelhak, Sonia, Rebai, Ahmed

    Published in Genomics (San Diego, Calif.) (01-11-2020)
    “…Computational approaches have been developed to prioritize candidate genes in disease gene identification. They are based on different pieces of evidences…”
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    Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway by Hamdi, Yosr, Jerbi, Manel, Romdhane, Lilia, Ben Rekaya, Mariem, El Benna, Houda, Chouchane, Lotfi, Boubaker, Mohamed Samir, Abdelhak, Sonia, Yacoub-Youssef, Houda

    Published in DNA repair (01-02-2020)
    “…•Twenty regulatory SNPs contributed to the inter-ethnic diversity of the NER-complex.•Common regulatory variants of DDB1 seem to be associated with skin…”
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    Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved by Mezzi, Nessrine, Messaoud, Olfa, Mkaouar, Rahma, Zitouna, Nadia, Romdhane, Safa, Abdessalem, Ghaith, Charfeddine, Cherine, Maazoul, Faouzi, Ouerteni, Ines, Hamdi, Yosr, Zaouak, Anissa, Mrad, Ridha, Abdelhak, Sonia, Romdhane, Lilia

    Published in Genes (19-11-2021)
    “…Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the…”
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    Consanguinité et son impact sur la santé et la dynamique du génome : Un exemple de la Tunisie by Mezzi, Nessrine, Abassi, Najla, Fatnassi, Faten, Abdelhak, Sonia, Romdhane, Lilia

    Published in Tunisie Medicale (12-05-2024)
    “…Le spectre des maladies génétiques en Tunisie résulte de l'effet fondateur, de la dérive génétique, de la pression de sélection, et de la consanguinité…”
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    Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss by Riahi, Zied, Hammami, Hassen, Ouragini, Houyem, Messai, Habib, Zainine, Rim, Bouyacoub, Yosra, Romdhane, Lilia, Essaid, Donia, Kefi, Rym, Rhimi, Mohsen, Bedoui, Monia, Dhaouadi, Afef, Feldmann, Delphine, Jonard, Laurence, Besbes, Ghazi, Abdelhak, Sonia

    Published in Gene (01-08-2013)
    “…Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to…”
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