Search Results - "Fakhfakh, Faiza"

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis by Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma

“…A study of families from southern Tunisia affected by general pustular psoriasis uncovered the genetic cause of their disease: a mutation affecting the…”
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A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity by Jdila, Marwa Ben, Mignon-Ravix, Cécile, Ncir, Sihem Ben, Kammoun, Fatma, Fakhfakh, Faiza, Villard, Laurent, Triki, Chahnez

“…Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of…”
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Effect of freezing–thawing process and quercetin on human sperm survival and DNA integrity by Zribi, Nassira, Chakroun, Nozha Feki, Ben Abdallah, Fatma, Elleuch, Henda, Sellami, Afifa, Gargouri, Jalel, Rebai, Tarek, Fakhfakh, Faiza, Keskes, Leila Ammar

“…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…”
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Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation by Mkaouar-Rebai, Emna, Ammar, Marwa, Sfaihi, Lamia, Alila-Fersi, Olfa, Maalej, Marwa, Felhi, Rahma, Hachicha, Mongia, Fakhfakh, Faiza

“…Mitochondrial diseases include a wide group of clinically heterogeneous disorders caused by a dysfunction of the mitochondrial respiratory chain and can be…”
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Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation by Ennouri, Mariem, Zimmer, Andreas D, Bahloul, Emna, Chaabouni, Rim, Marrakchi, Slaheddine, Turki, Hamida, Fakhfakh, Faiza, Bougacha-Elleuch, Noura, Fischer, Judith

“…Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital…”
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Protective effects of pomegranate peel against hematotoxicity, chromosomal aberrations, and genotoxicity induced by barium chloride in adult rats by Elwej, Awatef, Ben Salah, Ghada, Kallel, Choumous, Fakhfakh, Faiza, Zeghal, Najiba, Ben Amara, Ibtissem

“…Context Pomegranate peel (PP) has health benefits including antibacterial, antioxidant, anti-inflammatory, and antimutagenic properties. Objective This study…”
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Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene by Louhichi, Nacim, Bahloul, Emna, Marrakchi, Slaheddine, Othman, Houda Ben, Triki, Chahnez, Aloulou, Kawthar, Trabelsi, Lobna, Mahfouth, Nadia, Ayadi-Mnif, Zeineb, Keskes, Leila, Fakhfakh, Faiza, Turki, Hamida

“…Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to…”
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Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations by Alila-Fersi, Olfa, Aloulou, Hajer, Werteni, Ines, Mahfoudh, Nadia, Chabchoub, Imen, Kammoun, Hassen, Keskes, Leila, Hachicha, Mongia, Belguith, Neila, Fakhfakh, Faiza

“…Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase ( GAA ) gene leading to a…”
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Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy by Ben Said, Mariem, Jallouli, Olfa, Ben Aissa, Abir, Souissi, Amal, Kamoun, Fatma, Fakhfakh, Faiza, Masmoudi, Saber, Ben Ayed, Ikhlas, Charfi Triki, Chahnez

“…Objective To develop a high‐throughput sequencing panel for the diagnosis of developmental and epileptic encephalopathy in Tunisia and to clarify the frequency…”
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Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men by Ghorbel, Myriam, Baklouti-Gargouri, Siwar, Keskes, Rim, Chakroun, Nozha, Sellami, Afifa, Fakhfakh, Faiza, Ammar-Keskes, Leila

“…The relationship between male infertility and microdeletions in the Y chromosome that remove multiple genes varies among countries and populations. The aim of…”
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Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases by Felhi, Rahma, Charif, Majida, Sfaihi, Lamia, Mkaouar-Rebai, Emna, Desquiret-Dumas, Valerie, Kallel, Rim, Bris, Céline, Goudenège, David, Guichet, Agnès, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Hachicha, Mongia, Fakhfakh, Faiza, Lenaers, Guy

“…Mitochondrial diseases are a clinically heterogeneous group of multisystemic disorders that arise as a result of various mitochondrial dysfunctions. Autosomal…”
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First report of Tunisian patients with CDKL5‐related encephalopathy by Charfi Triki, Chahnez, Zouari Mallouli, Salma, Ben Jdila, Marwa, Ben Said, Mariem, Kamoun Feki, Fatma, Weckhuysen, Sarah, Masmoudi, Sabeur, Fakhfakh, Faiza

“…Objective Mutations in the cyclin‐dependent kinase‐like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early‐onset epileptic…”
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Sperm DNA fragmentation and oxidation are independent of malondialdheyde by Zribi, Nassira, Chakroun, Nozha Feki, Elleuch, Henda, Abdallah, Fatma Ben, Ben Hamida, Afifa Sellami, Gargouri, Jalel, Fakhfakh, Faiza, Keskes, Leila Ammar

“…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…”
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Genetic analysis of Turner syndrome in Tunisian patients: from diagnosis to management by Siala-Sahnoun, Olfa, Laadhar, Fatma, Mnif, Mouna, Sefi, Wajdi, Kacem, Faten, Kessentini, Mohamed, Abid, Mohamed, Fakhfakh, Faiza

“…Background/aim Turner syndrome (TS) is a rare sex chromosome abnormality in women, occurring in approximately one in 2500 live births, associated with a wide…”
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Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations by Kanoun, Houda, Jarraya, Faiçal, Maalej, Bayen, Lahiani, Amina, Mahfoudh, Hichem, Makni, Fatma, Hachicha, Jamil, Fakhfakh, Faiza

“…Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver…”
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The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes by Tabebi, Mouna, Safi, Wajdi, Felhi, Rahma, Alila Fersi, Olfa, Keskes, Leila, Abid, Mohamed, Mnif, Mouna, Fakhfakh, Faiza

“…Background Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial…”
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CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements by Salem, Ikhlass Hadj, Hsairi, Ines, Mezghani, Najla, Kenoun, Houda, Triki, Chahnez, Fakhfakh, Faiza

“…Recessive mutations of CAPN3 gene are reported to be responsible for limb girdle muscular dystrophy type 2A (LGMD2A). In all, 15-25% of intronic nucleotide…”
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Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity by Laadhar, Sahar, Ben Mansour, Riadh, Marrakchi, Slaheddine, Miled, Nabil, Ennouri, Mariem, Fischer, Judith, Kaddechi, Mohamed Ali, Turki, Hamida, Fakhfakh, Faiza

“…Background The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane‐associated…”
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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene by Louhichi, Nacim, Hadjsalem, Ikhlass, Marrakchi, Slaheddine, Trabelsi, Fatma, Masmoudi, Abderrahmen, Turki, Hamida, Fakhfakh, Faiza

“…Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate…”
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Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease by Combes, Patricia, Kammoun, Nadège, Monnier, Aurélie, Gonthier-Guéret, Céline, Giraud, Geneviève, Bertini, Enrico, Chahnez, Triki, Fakhfakh, Faiza, Boespflug-Tanguy, Odile, Vaurs-Barrière, Catherine

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