N. Bouayed Abdelmoula

ORCID: 0000-0002-0102-4405
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About
Contact & Profiles
Research Areas
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Sexual Differentiation and Disorders
  • Sperm and Testicular Function
  • Prenatal Screening and Diagnostics
  • Genomic variations and chromosomal abnormalities
  • Reproductive Biology and Fertility
  • Chromosomal and Genetic Variations
  • Genetics and Neurodevelopmental Disorders
  • Chronic Myeloid Leukemia Treatments
  • Gut microbiota and health
  • Folate and B Vitamins Research
  • Spine and Intervertebral Disc Pathology
  • Assisted Reproductive Technology and Twin Pregnancy
  • Genetic factors in colorectal cancer
  • Acute Lymphoblastic Leukemia research
  • Urological Disorders and Treatments
  • Galectins and Cancer Biology
  • Williams Syndrome Research
  • Antiplatelet Therapy and Cardiovascular Diseases
  • Protein Tyrosine Phosphatases
  • Estrogen and related hormone effects
  • CRISPR and Genetic Engineering
  • Cardiac electrophysiology and arrhythmias
  • Genomics and Rare Diseases
  • Blood Coagulation and Thrombosis Mechanisms

University of Sfax
2015-2025

Universidad Autónoma de Baja California
2023

Madurai Medical College
2023

Sols, Solides, Structures, Risques
2016

Centre Hospitalier Universitaire Hassan II
2014

Hôpital Paule de Viguier
2008

Hôpital Farhat Hached
2008

Lille’s Cardiology Hospital
2008

Institut Paoli-Calmettes
2007-2008

Yahoo (Spain)
2004

The coronary artery disease (CAD) is a chronic inflammatory involving genetic as well environmental factors. Recent evidence suggests that the oral microbiome has significant role in triggering atherosclerosis. present study assessed composition variation between patients and healthy subjects order to identify potential pathogenic signature associated with CAD. We performed metagenomic profiling of salivary microbiomes by 16S ribosomal RNA (rRNA) next-generation sequencing. Oral microbiota...

10.1042/bsr20220583 article EN Bioscience Reports 2022-06-13

Introduction Noonan-like syndrome with loose anagen hair (NSLH MIM 607721) is associated to mutations in PTPN11, RAF1, BRAF and SHOC2 genes. Objectives Here, we report behavioral phenotype of a child suspected have NSLH. Methods A 2-years-old Tunisian harboring severe pulmonic valvular stenosis was referred our genetic counselling for assessment. Medical dysmorphology, cytogenetic analysis as well exploration RAS-MAPK pathway genes were conducted. Results The had short stature ectodermal...

10.1192/j.eurpsy.2022.1172 article EN cc-by-nc-nd European Psychiatry 2022-06-01

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating infection of the central nervous system caused by JC papovavirus usually seen among immunocompromised patients. PML arises upon virus reactivation during periods immunosuppression. may be patients with

10.3324/haematol.11259 article EN cc-by-nc Haematologica 2007-10-01

Uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1), which is the major UGT1 gene product, located on chromosome 2q37. The expression of UGT1A1 relatively managed by a polymorphic dinucleotide repeat inside promoter TATA box consisting 5-8 copies TA repeat. A (TA) 6TAA considered as wild type. 7TAA allele has been identified most frequent in Caucasian populations while 8TAA remains rarest worldwide North Africa, including Arab populations.The spectrum genetic mutations seventeen...

10.1002/jcla.24482 article EN cc-by-nc-nd Journal of Clinical Laboratory Analysis 2022-05-09

We describe a female infant with severe abnormal phenotype de novo partial duplication of the short arm X chromosome. Chromosome painting confirmed origin this duplication. Molecular cytogenetic analysis fluorescence in situ hybridization (FISH) was performed YAC probes, further delineating breakpoints. The karyotype 46, dup(X)(p11‐p21.2).Cytogenetic replication studies showed that normal and duplicated chromosomes were randomly inactivated lymphocytes. In most females structurally...

10.1034/j.1399-0004.2000.580205.x article EN Clinical Genetics 2000-08-01

Introduction While the acoustic environment in cities correlates with various health-related problems, health benefits of natural sounds are proven. These positive effects nature should probably be taken seriously urban design and renewal projects. Objectives The aim this study was to review paradigm soundscapes cities, psychological potential recommendations for such architecture design. Methods We conducted a comprehensive scientific literature using Web databases following keywords:...

10.1192/j.eurpsy.2024.1414 article EN cc-by-nc-nd European Psychiatry 2024-04-01

Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, mainly the C677T, have been implicated as risk factors for several cancers acute lymphoblastic leukemia (ALL). In addition, a potential effect of such variant on efficacy methotrexate (MTX) has reported.In this study, we evaluated impact C677T MTHFR MTX-related toxicity in ALL patients from Tunisia; to provide new insights personalized therapy based human genotype.Genotyping was carried out with restriction fragment length...

10.1177/1078155218818244 article EN Journal of Oncology Pharmacy Practice 2018-12-14
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