Search Results - "Hadj Fredj, Sondes"
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A gain-of-function mutation in zinc cluster transcription factor Rob1 drives Candida albicans adaptive growth in the cystic fibrosis lung environment
Published in PLoS pathogens (11-04-2024)“…Candida albicans chronically colonizes the respiratory tract of patients with Cystic Fibrosis (CF). It competes with CF-associated pathogens (e.g. Pseudomonas…”
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2
Association between H2 haplotype of microtubule associated protein tau gene (deletion / insertion) with Alzheimer Disease in Tunisian patients
Published in Neurological research (New York) (02-09-2022)“…It is widely recognized that Alzheimer's disease (AD) is the main cause of dementia in the elderly. AD is typically characterized by the extraneuronal plaque…”
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3
Determination of glucose-6-phosphate dehydrogenase cut-off values in a Tunisian population
Published in Clinical chemistry and laboratory medicine (26-07-2017)“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. The incidence depends essentially on the methods used for the…”
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4
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease
Published in Neurobiology of aging (01-10-2015)“…Abstract A minority of Alzheimer disease (AD) patients begin presenting symptoms before the age of 65 years. A familial aggregation is often found in this…”
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Association Between Alzheimer Disease and the −491T Allele of Regulatory Region Polymorphism of Apolipoprotein E in a Tunisian Population
Published in Neurochemical research (01-02-2014)“…The apolipoprotein E ( APOE ) is a well-established risk factor for late-onset Alzheimer’s disease (AD). Several studies have attempted to confirm the…”
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6
Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease
Published in Annales de biologie clinique (Paris) (01-07-2017)“…Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the…”
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7
High APOE epsilon 4 allele frequencies associated with Alzheimer disease in a Tunisian population
Published in Neurological sciences (01-02-2012)“…The goal of the study was to examine the Apolipoprotein E ( APOE ) genotypes in a Tunisian sample of patients with Alzheimer disease (AD) and normal controls,…”
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Setup of a Protocol of Molecular Diagnosis of β-Thalassemia Mutations in Tunisia using Denaturing High-Performance Liquid Chromatography (DHPLC)
Published in Journal of clinical laboratory analysis (01-09-2016)“…Backgrounds β‐Thalassemia is one of the most prevalent worldwide autosomal recessive disorders. It presents a great molecular heterogeneity resulting from more…”
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9
Molecular Characterization of Mycobacterium tuberculosis Strains Resistant to Isoniazid
Published in International journal of mycobacteriology (01-12-2016)“…Abstract Objective/Background Tuberculosis is a major public health problem and the emergence of drug resistance complicates the situation even more. It is…”
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10
Association between ACE polymorphism, cognitive phenotype and APOE E4 allele in a Tunisian population with Alzheimer disease
Published in Journal of Neural Transmission (01-03-2016)“…Angiotensin-converting enzyme (ACE) has shown altered activity in patients with neurological diseases. An insertion/deletion (I/D) polymorphism of the ACE gene…”
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11
Genotypic and phenotypic portrait of Candida albicans clinical isolates colonizing the airways of patients with cystic fibrosis
Published in Access microbiology (17-12-2021)“…Candida albicans colonizes the respiratory tract of patients with Cystic Fibrosis (CF). It competes with CF-associated pathogens, such as Pseudomonas…”
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12
Setup of a Protocol of Molecular Diagnosis of [beta]-Thalassemia Mutations in Tunisia using Denaturing High-Performance Liquid Chromatography (DHPLC)
Published in Journal of clinical laboratory analysis (01-09-2016)“…Backgrounds [beta]-Thalassemia is one of the most prevalent worldwide autosomal recessive disorders. It presents a great molecular heterogeneity resulting from…”
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