Ikhlas Ben Ayed
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View article: Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients Open
Objective Colorectal cancer (CRC) is among the most commonly diagnosed cancers worldwide, with 2% to 5% of cases being linked to inherited syndromes. Material and methods A cohort of 30 Tunisian patients was selected and divided into two g…
View article: Genome Tunisia Project: paving the way for precision medicine in North Africa
Genome Tunisia Project: paving the way for precision medicine in North Africa Open
Genome Tunisia is the first initiative in North Africa that seeks to demonstrate the major impact that can be achieved by Human Genome Projects in low- and middle-income countries to strengthen research and to improve disease management an…
View article: Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutation
Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutation Open
Kabuki syndrome is a rare condition characterized by intellectual disability, poly-malformative syndrome, and distinctive facial dysmorphia. It also exhibits clinical and biological heterogeneity, with rare and diverse symptoms. Genetic an…
View article: Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy Open
Objective To develop a high‐throughput sequencing panel for the diagnosis of developmental and epileptic encephalopathy in Tunisia and to clarify the frequency of disease‐causing genes in this region. Methods We developed a custom panel fo…
View article: Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy Open
Background Developmental and Epileptic Encephalopathies stand for a heterogenous group of epileptic syndromes, where the epileptic activity itself and/or the etiology contribute to cognitive and behavioral impairment. In recent decades, ge…
View article: Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region Open
Pathogenic germline variants in the PIGT gene are associated with the “multiple congenital anomalies–hypotonia-seizures syndrome 3” (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epileps…
View article: Familial Autism Spectrum Disorder : A clinical study from South Tunisia
Familial Autism Spectrum Disorder : A clinical study from South Tunisia Open
Introduction Autism Spectrum Disorder (ASD) is a multifactorial neurodevelopmental disorder, with both contribution of genetic and non-genetic factors. A collaboration of de novo mutations and prenatal with postnatal environmental factors …
View article: Psychological impact of motor impairment in tow forms of congenital muscular dystrophy
Psychological impact of motor impairment in tow forms of congenital muscular dystrophy Open
Introduction Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development. Several genes are known to be responsible for CMDs, incl…
View article: Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus
Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus Open
Background Almost 5% of the world's population develops an autoimmune disease (AID), it is considered the fourth leading cause of disability for women, who represent 78% of cases. The sex ratio when it comes to the most prevalent AID varie…
View article: Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss
Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss Open
Otosclerosis (OTSC) is a complex bone disorder of the otic capsule, which causes conductive hearing impairment in human adults. The dysregulation of the signaling axis mediated by the receptor activator of nuclear factor-kappa-B (RANK), RA…
View article: Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys
Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys Open
Background In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and th…
View article: rs1021188-TN.xlsx
rs1021188-TN.xlsx Open
Genetic association of rs1021188 and DNA methylation signatures of TNFSF11 in the risk of Conductive Hearing Loss
View article: 8q21.11 microdeletion syndrome: Delineation of <i>HEY1</i> as a candidate gene in neurodevelopmental and cardiac defects
8q21.11 microdeletion syndrome: Delineation of <i>HEY1</i> as a candidate gene in neurodevelopmental and cardiac defects Open
Background 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the on…
View article: A year of genomic surveillance reveals how the SARS-CoV-2 pandemic unfolded in Africa
A year of genomic surveillance reveals how the SARS-CoV-2 pandemic unfolded in Africa Open
The progression of the SARS-CoV-2 pandemic in Africa has so far been heterogeneous and the full impact is not yet well understood. Here, we describe the genomic epidemiology using a dataset of 8746 genomes from 33 African countries and two…
View article: Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population Open
In conclusion, our findings do not only expand the spectrum of HI mutations in Tunisian patients, but also improve our knowledge about clinical relevance of HI causing genes and variants.