Search Results - "Haj Khelil, Amel"

Rapid Genotyping of Alpha 1 Antitrypsin Deletion Mutation (PIMmalton) Using Bi-directional PCR Allele-specific Amplification by Denden, Sabri, Lakhdar, Ramzi, Leban, Nadia, Ben Chibani, Jemni, Haj Khelil, Amel

“…Alpha 1 antitrypsin deficiency (AATD) is a well recognized genetic risk factor for pulmonary disease and less common liver disease. The two most common…”
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Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype? by Touhami, Rahma, Foddha, Hajer, Alix, Eudeline, Jalloul, Afef, Mougou-Zerelli, Soumaya, Saad, Ali, Sanlaville, Damien, Haj Khelil, Amel

“…Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations…”
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Beverage preference (coffee vs. tea) according to CYP1A2 gene rs2470893 SNP genotypes in the Tunisian population by Denden, Sabri, Sellami, Mohamed Hichem, Kibech, Ridha, Haj Khelil, Amel, Hamdaoui, Mohamed Hédi

“…Background Caffeine intake has been positively or negatively associated with the risk of chronic disease. Genome-wide association studies identified…”
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Regulation of SCN5A by microRNAs: miR-219 modulates SCN5A transcript expression and the effects of flecainide intoxication in mice by Daimi, Houria, PhD, Lozano-Velasco, Estefania, PhD, Haj Khelil, Amel, MD, PhD, Chibani, Jemni B.E., MD, PhD, Barana, Adriana, PhD, Amorós, Irene, PhD, González de la Fuente, Marta, PhD, Caballero, Ricardo, PhD, Aranega, Amelia, MD, PhD, Franco, Diego, PhD

“…Background The human cardiac action potential in atrial and ventricular cells is initiated by a fast-activating, fast-inactivating sodium current generated by…”
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Role of SCN5A coding and non-coding sequences in Brugada syndrome onset: What's behind the scenes? by Daimi, Houria, Khelil, Amel Haj, Neji, Ali, Ben Hamda, Khaldoun, Maaoui, Sabri, Aranega, Amelia, Be Chibani, Jemni, Franco, Diego

“…Brugada syndrome (BrS) is a rare inherited cardiac arrhythmia associated with a high risk of sudden cardiac death (SCD) due to ventricular fibrillation (VF)…”
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Single nucleotide polymorphisms of SCN5A and SCN10A genes increase the risk of ventricular arrhythmias during myocardial infarction by Foddha, Hajer, Bouzidi, Nadia, Foddha, Abdelhak, Chouchene, Saoussen, Touhami, Rahma, Leban, Nadia, Maatoug, Mohamed Faouzi, Gamra, Habib, Ferchichi, Salima, Chibani, Jemni Ben, Khelil, Amel Haj

“…Coronary artery disease (CAD) and its ultimate consequence - myocardial infarction (MI) - are major causes of sudden cardiac death (SCD). Previous studies have…”
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Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes by Elhayek, Donia, Perez de Nanclares, Gustavo, Chouchane, Slaheddine, Hamami, Saber, Mlika, Adnène, Troudi, Monia, Leban, Nadia, Ben Romdane, Wafa, Gueddiche, Mohamed Neji, El Amri, Féthi, Mrabet, Samir, Ben Chibani, Jemni, Castaño, Luis, Haj Khelil, Amel, Ariceta, Gema

“…Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a…”
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Relationship between GSTM1 and GSTT1 polymorphisms and schizophrenia: A case–control study in a Tunisian population by Raffa, Monia, Lakhdar, Ramzi, Ghachem, Meriem, Barhoumi, Sana, Safar, Mohamed Taher, Bel Hadj Jrad, Besma, Haj Khelil, Amel, Kerkeni, Abdelhamid, Mechri, Anwar

“…There is substantial evidence found in the literature that supports the fact that the presence of oxidative stress may play an important role in the…”
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Oxidant, antioxidant status and metabolic data in patients with beta-thalassemia by Kassab-Chekir, Asma, Laradi, Sandrine, Ferchichi, Selima, Haj Khelil, Amel, Feki, Moncef, Amri, Fathi, Selmi, Habib, Bejaoui, Mohamed, Miled, Abdelhédi

“…Background: In beta-thalassemia major impaired biosynthesis of beta globin leads to accumulation of unpaired alpha globin chain. An iron overload, usually…”
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Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3 by Chouery, Eliane, Corbani, Sandra, Dahmen, Jaleleddine, Zouari, Leila, Gribaa, Moez, Leban, Nadia, Ben Chibani, Jemni, Lefranc, Gérard, Saad, Ali, Haj Khelil, Amel, Urtizberea, Andoni, Mégarbané, André

“…Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular…”
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Update in chronic obstructive pulmonary disease: role of antioxidant and metabolizing gene polymorphisms by Lakhdar, Ramzi, Denden, Sabri, Kassab, Asma, Leban, Nadia, Knani, Jalel, Lefranc, Gérard, Miled, Abelhadi, Chibani, Jemni Ben, Khelil, Amel Haj

“…ABSTRACT Chronic obstructive pulmonary disease (COPD) is characterized by systemic and local chronic inflammation and oxidative stress. The sources of the…”
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Hemoglobinopathies in North Africa: A Review by Haj Khelil, Amel, Denden, Sabri, Leban, Nadia, Daimi, Houria, Lakhdhar, Ramzi, Lefranc, Gérard, Ben Chibani, Jemni, Perrin, Pascale

“…Hemolytic anemias are very common diseases. Among these diseases, hemoglobinopathies are widely spread throughout the Mediterranean Basin, including North…”
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Atypical hemolytic uremic syndrome in the Tunisian population by Leban, Nadia, Aloui, Sabra, Touati, Dalel, Lakhdhar, Ramzy, Skhiri, Habib, Lefranc, Gerard, Achour, Abdellatif, Elmay, Mezri, Lopez-Trascasa, Margarita, Sanchez-Corral, Pilar, Chibani, Jemni, Haj Khelil, Amel

“…Background Hemolytic uremic syndrome consists of a triad of acquired hemolytic anemia, thrombocytopenia and renal failure. Aim Our objectives were to determine…”
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Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD) by Denden, Sabri, Khelil, Amel Haj, Knani, Jalel, Lakhdar, Ramzi, Perrin, Pascale, Lefranc, Gérard, Chibani, Jemni Ben

“…Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of…”
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Association of GSTM1 and GSTT1 Polymorphisms with Chronic Obstructive Pulmonary Disease in a Tunisian Population by Lakhdar, Ramzi, Denden, Sabri, Knani, Jalel, Leban, Nadia, Daimi, Houria, Hassine, Mohsen, Lefranc, Gérard, Ben Chibani, Jemni, Haj Khelil, Amel

“…GSTM1 and GSTT1 polymorphisms have been proposed in relationship with chronic obstructive pulmonary disease (COPD). We investigated the association between…”
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Clinical and molecular aspects of haemoglobinopathies in Tunisia by Haj Khelil, Amel, Laradi, Sandrine, Miled, Abdelhedi, Omar Tadmouri, Ghazi, Ben Chibani, Jemni, Perrin, Pascale

“…Background: For the last two decades, studies on the population genetics of Tunisians have focused on variations of protein and genetic markers. Results…”
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In silico analysis of alpha1-antitrypsin variants: The effects of a novel mutation by Denden, Sabri, Leban, Nadia, Hayek, Donia, Knani, Jalel, Chibani, Jemni Ben, Khelil, Amel Haj

“…Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient…”
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Genetic polymorphisms in VEGFA and VEGFR2 genes associated with coronary heart disease susceptibility and severity by Hajer, Foddha, Hana, Saoud, Saoussen, Chouchene, Abdelhak, Foddha, Nadia, Bouzidi, Ameni, Dhiflaoui, Habib, Gamra, Hassen, Ben abdennebi, Amel, Haj Khelil

“…Background ​Vascular endothelial growth factor A ( VEGFA ) is well acknowledged as a powerful angiogenesis-promoting agent mainly through its receptor VEGFR2 …”
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The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape by Busby, George B.J., Hellenthal, Garrett, Montinaro, Francesco, Tofanelli, Sergio, Bulayeva, Kazima, Rudan, Igor, Zemunik, Tatijana, Hayward, Caroline, Toncheva, Draga, Karachanak-Yankova, Sena, Nesheva, Desislava, Anagnostou, Paolo, Cali, Francesco, Brisighelli, Francesca, Romano, Valentino, Lefranc, Gerard, Buresi, Catherine, Ben Chibani, Jemni, Haj-Khelil, Amel, Denden, Sabri, Ploski, Rafal, Krajewski, Pawel, Hervig, Tor, Moen, Torolf, Herrera, Rene J., Wilson, James F., Myers, Simon, Capelli, Cristian

“…Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of…”
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Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis by Baklouti, Faouzi, Morinière, Madeleine, Haj-Khélil, Amel, Fénéant-Thibault, Madeleine, Gruffat, Henri, Couté, Yohann, Ninot, Alain, Guitton, Corinne, Delaunay, Jean

“…Complete loss of protein 4.1R in red blood cell membrane is a very rare condition in humans. We here explore the third case. The morphological and biochemical…”
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