16 Result(s)
within
Sonia Abdelhak
Biomedicine
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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 AccessDysregulated PDGFR alpha expression and novel somatic mutations in colorectal cancer: association to RAS wild type status and tumor size
Platelet derived growth factor receptor alpha (PDGFRα) has been considered as a relevant factor in tumor proliferation, angiogenesis and metastatic dissemination. It was a target of tyrosine kinase (TK) inhibi...
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Article
Correction to: BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report
The original version of this article unfortunately contained an error in the abstract section and Figure 2h image.
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Article
BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report
Breast cancer is currently the leading cause of cancer morbidity and mortality among Algerian women. In this study, we aimed to investigate the mutation spectrum of BRCA1 and BRCA2 genes in hereditary breast/ovar...
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Article
Open AccessIdentification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic ...
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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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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
Open AccessLactase 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...
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Article
Open AccessUsing 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...
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Article
Association Analysis of IGF2BP2, KCNJ11, and CDKAL1 Polymorphisms with Type 2 Diabetes Mellitus in a Moroccan Population: A Case–Control Study and Meta-analysis
Associations with type 2 diabetes mellitus have been identified for variants CDKAL1 rs7756992, KCNJ11 rs5219, and IGF2BP2 rs4402960 in different populations. In a case–control study of 250 unrelated Moroccan diab...
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Article
Consanguinity, endogamy, and genetic disorders in Tunisia
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Article
Systems medicine and integrated care to combat chronic noncommunicable diseases
We propose an innovative, integrated, cost-effective health system to combat major non-communicable diseases (NCDs), including cardiovascular, chronic respiratory, metabolic, rheumatologic and neurologic disor...
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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...
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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...
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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...
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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...
