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
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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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
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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Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia
Published in PloS one (27-01-2021)“…Hereditary breast cancer accounts for 5-10% of all breast cancer cases. So far, known genetic risk factors account for only 50% of the breast cancer genetic…”
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Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations
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
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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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Published in Frontiers in genetics (25-06-2024)“…[This corrects the article DOI: 10.3389/fgene.2024.1384094.]…”
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A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
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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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Published in Frontiers in genetics (22-04-2024)“…Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic…”
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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome
Published in Molecular genetics & genomic medicine (01-07-2019)“…Background Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive…”
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Consanguinity and Inbreeding in Health and Disease in North African Populations
Published in Annual review of genomics and human genetics (31-08-2019)“…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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Consanguinity and rare disease in North Africa: Current situation and perspectives
Published in Journal of biotechnology (01-09-2014)Get full text
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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
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
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
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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Human OMICs and Computational Biology Research in Africa: Current Challenges and Prospects
Published in Omics (Larchmont, N.Y.) (01-04-2021)“…Following the publication of the first human genome, OMICs research, including genomics, transcriptomics, proteomics, and metagenomics, has been on the rise…”
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A review of clinical pharmacogenetics Studies in African populations
Published in Personalized medicine (01-03-2020)“…Effective interventions and treatments for complex diseases have been implemented globally, however, coverage in Africa has been comparatively lower due to…”
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Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population
Published in Human mutation (01-11-2015)“…ABSTRACT The Mediterranean basin has been the theater of migration crossroads followed by settlement of several societies and cultures in prehistoric and…”
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Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
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
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
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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