A5067391413- Congenital Diaphragmatic Hernia Studies
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Renal and related cancers
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Reproductive Biology and Fertility
- RNA modifications and cancer
- Cancer and Skin Lesions
- Fetal and Pediatric Neurological Disorders
- Sperm and Testicular Function
- Pancreatic function and diabetes
- Sexual Differentiation and Disorders
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Urological Disorders and Treatments
- Hedgehog Signaling Pathway Studies
- Genetic and rare skin diseases.
- Neonatal Health and Biochemistry
- Williams Syndrome Research
- Pregnancy and preeclampsia studies
- Reproductive Health and Technologies
- BRCA gene mutations in cancer
Hôpital Farhat Hached
2012-2023
KU Leuven
2015-2019
University of Sousse
2015
University Teaching Hospital
2011-2012
Abstract Background Congenital diaphragmatic hernia (CDH) is characterized by a defective closure of the diaphragm occurring as an isolated defect in 60% cases. Lung size, liver herniation, and pulmonary circulation are major prognostic indices. Isolated CDH genetics heterogeneous poorly understood. Whether genetic lesions also outcome determinants has never been explored. Objectives To identify causes, to fine map mutational burden, search for correlation between genotype disease severity...
Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression phenotype. Despite progress in the genetic diagnosis DSD, most 46,XY DSD cases remain idiopathic.To determine causes we studied 165 patients Tunisian ancestry, who presented wide range phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES)...
Premature ovarian insufficiency ( POI ) affects approximately 1% of women before the age 40. Genetic contribution is a significant component . In this context, heterozygous mutations in NOBOX , BMP15 and GDF9 have been reported. The objective our study was to evaluate prevalence these genes 125 unrelated Tunisian patients diagnosed with screening gene revealed three missense (p. Arg117Trp ; p. Gly91Trp Pro619Leu eight patients. These were not found 200 ethnically matched without fertility...
Congenital diaphragmatic hernia (CDH) is a malformation leading to pulmonary hypoplasia which can be treated in utero by fetal tracheal occlusion (TO). However the changes of gene expression induced TO remain largely unknown but could used further improve clinically prenatal treatment this devastating malformation. Therefore we aimed investigate transcriptome due surgical induction (DH) and additional rabbit model. Induction DH was associated with 378 up-regulated genes compared controls...
Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk aneuploid gametes production. Besides the direct effect on involved chromosomes, these rearrangements might disturb segregation other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers translocations, four reciprocals two Robertsonians, were investigated. addition, seven fertile men with 46,XY karyotypes sperm...
Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders been correlated with sSMC presence. The aim of this study is to characterize the derived from chromosome 18 by Fluorescence in situ hybridization (FISH) Array Comparative Genomic Hybridization (aCGH). Nine children dysmorphic features investigated. They these common: a triangular face, low-set ears, large mouth thin upper lip,...
Corpus callosum malformations (CCM) represent one of the most common congenital cerebral with a prevalence around for 4000 births. There have been at least 230 reports in literature concerning 1q43q44 deletions varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus defects, and significant craniofacial dysmorphism. In this study, we present molecular cytogenetic analysis 2 Tunisian patients...
We describe two patients carrying deletions of chromosome 8p23.1 with a commonly critical region identified by means oligonucleotide array comparative genomic hybridization (array CGH). They didn't present congenital heart defects or behavioral problems. Only one patient presented intellectual disability and deletion TNKS gene. presumed the inclusion gene in mental impairment.
RLIM, also called RNF12, is an X-linked E3 ubiquitin ligase. It a pleotropic protein acting as negative regulator of LIM-homeodomain transcription factors and SMAD7, antagonist the BMP TGFβ pathways. Mutations in RLIM are associated with variable congenital malformations human. The molecular mechanism causing these still poorly understood. In this study, we used conventional knockout (KO) mouse model to phenotypically characterize male mutants investigate effect Rlim mutation on pathway...
The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but also thought to be responsible for unexplained recurrent miscarriage (RM). Such can go unnoticed through conventional cytogenetic techniques undetectable even with high-resolution molecular such as array comparative genomic hybridization (aCGH), especially when DNA the stillbirth or families not available. aim study is evaluate rate...
Turner syndrome (TS) is defined by total or partial loss of the sex chromosomes X. Features vary widely including short stature and ovarian failure inconstantly associated with characteristic face, skeletal malformations, renal cardiac anomalies endocrine disorders. We analyzed clinical cytogenetic profiles 37 TS children diagnosed from January 2007 to December 2011 in aim establish genotype- phenotype correlations. Growth delay hypothyroidism were noted respectively 89.2% 19.4%of patients....
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, clubfeet. A terminal 2q at least 10 9 Mb, respectively, derived from maternal translocation, were found. The represents contiguous gene syndrome mainly characterized by IUGR, congenital less frequently defects. This encompasses the IGF1R COUPTF2 genes, known to lead...
Ziel: Erfassung und Quantifizierung von Veränderungen im Transkriptom der fetalen Lunge durch eine intrauterin chirurgisch erzeugte Zwerchfellhernie (DH) anschließende Trachealokklusion (TO) Kaninchen-Model.
The deletion of the long arm chromosome 18 causes a contiguous gene syndrome with highly variable phenotype, usually related to extent deleted region. most commonly reported clinical features include: mental disabilities, decreased growth, microcephaly and facial abnormalities. We report on case partial monosomy 18q22 derived from maternal reciprocal translocation t(8; 18). patient was 7 months old referred for genetic exploration neurodevelopmental delay, craniofacial dysmorphism, post...