User profiles for Faiza Fakhfakh

faiza fakhfakh

professor of human molecular genetics , university of Sfax TUNISIA
Verified email at fss.usf.tn
Cited by 3431

[HTML][HTML] Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis

…, H Makni, N Mahfoudh, F Fakhfakh… - … England Journal of …, 2011 - Mass Medical Soc
Background Generalized pustular psoriasis is a life-threatening disease of unknown cause.
It is characterized by sudden, repeated episodes of high-grade fever, generalized rash, and …

Effect of freezing–thawing process and quercetin on human sperm survival and DNA integrity

…, H Elleuch, A Sellami, J Gargouri, T Rebai, F Fakhfakh… - Cryobiology, 2012 - Elsevier
We aimed in the first part of our work to study the effect of cryopreservation on the human
sperm DNA integrity and the activation of caspase 3, the main apoptosis indicator. In the …

[HTML][HTML] Sperm DNA fragmentation and oxidation are independent of malondialdheyde

…, AS Ben Hamida, J Gargouri, F Fakhfakh… - Reproductive Biology …, 2011 - Springer
Background There is clinical evidence to show that sperm DNA damage could be a marker
of sperm quality and extensive data exist on the relationship between DNA damage and …

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder …

…, NB Romero, H Ayadi, P Guicheney, F Fakhfakh - neurogenetics, 2004 - Springer
The congenital muscular dystrophies (CMD) constitute a clinically and genetically
heterogeneous group of autosomal recessive myopathies. Patients show congenital hypotonia, …

Chromosomal defects in infertile men with poor semen quality

…, A Sellami, N Belguith, H Kamoun, F Fakhfakh… - Journal of assisted …, 2012 - Springer
Purpose To assess the incidence and the type of chromosomal aberrations in males with
infertility we reviewed cytogenetic results in 76 Tunisian infertile men (54 nonobstructive …

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men

…, M Cherif, N Chakroun, A Sellami, F Fakhfakh… - Molecular biology …, 2013 - Springer
In this study we performed a systematic sequence analysis of 6 mitochondrial genes (cytochrome
oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate …

The heteroplasmic m. 14709T> C mutation in the tRNAGlu gene in two Tunisian families with mitochondrial diabetes

…, N Rekik, S Youssef, M Abid, F Fakhfakh - Journal of Diabetes and …, 2010 - Elsevier
Diabetes mellitus (DM) is a heterogeneous disorder characterized by the presence of chronic
hyperglycemia. Genetic factors play an important role in the development of this disorder, …

A novel mutation MT-COIII m. 9267G> C and MT-COI m. 5913G> A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and …

…, H Kamoun, M Abid, F Fakhfakh - Biochemical and …, 2015 - Elsevier
Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic
hyperglycemia, maternal transmission and its association with a bilateral hearing impairment. …

Association between Leptin gene polymorphisms and plasma leptin level in three consanguineous families with obesity

…, N Fendri, S Sessi, M Abid, A Rebai, F Fakhfakh - Gene, 2013 - Elsevier
Introduction Leptin (LEP) gene is one of the most promising candidate genes for obesity.
Previous studies have tested the association of polymorphisms in LEP gene with obesity and …

Pustular psoriasis of pregnancy: Clinical and genetic characteristics in a series of eight patients and review of the literature

…, K Sellami, S Marrakchi, F Fakhfakh… - Dermatologic …, 2022 - Wiley Online Library
Pustular psoriasis of pregnancy (PPP) can lead to life‐threatening complications. The
objective of this study is to report clinical and genetic spectrum, prognostic factors and …