3 results match your criteria: "CHU Hedi Chaker Hospital[Affiliation]"
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
IUBMB Life
December 2019
Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Tuberous sclerosis complex (TSC) syndrome is a neurocutaneous syndrome that affects the brain, skin, and kidneys that has an adverse impact on the patient's health and quality of life. There have been several recent advances that elucidate the genetic complex of this disorder that will help understand the basic neurobiology of this disorder. We report a Tunisian patient with clinical manifestations of TSC syndrome.
View Article and Find Full Text PDFA novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Biochem Biophys Res Commun
May 2018
Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. Electronic address:
Article Synopsis
- * In a study of 27 patients with congenital heart defects, researchers used karyotype analysis and FISH, discovering a de novo 22q11.2 deletion in two patients and a novel TBX1 mutation (c.569C > A) in six patients.
- * The novel mutation could negatively affect the TBX1 protein's function and stability and was absent in 50 healthy controls, suggesting it may play a harmful role linked to the 22q11.2 deletion syndrome phenotype
Primary adenocarcinoma in a kidney allograft: a case report and review of the literature.
Transplant Proc
March 2011
Department of nephrology, CHU Hedi Chaker Hospital, Sfax, Tunisia.
De novo tumors are common complications after solid organ transplantation. Lymphoma and skin cancers are the most frequently observed malignancies. However, graft carcinomas can be observed to be five times more frequent after kidney transplantation compared to their incidence in the general population.
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