Search Results - "Nagara, Majdi"

Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer by Zaravinos, Apostolos, Roufas, Constantinos, Nagara, Majdi, de Lucas Moreno, Beatriz, Oblovatskaya, Maria, Efstathiades, Christodoulos, Dimopoulos, Christos, Ayiomamitis, Georgios D

“…Microsatellite unstable colorectal cancers (MSI+ CRCs) expressing PD-L1, respond to anti-PD-1 or anti-PD-L1 checkpoint blockade, whereas microsatellite-stable…”
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A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci by Hamdi, Yosr, Ben Rekaya, Mariem, Jingxuan, Shan, Nagara, Majdi, Messaoud, Olfa, Benammar Elgaaied, Amel, Mrad, Ridha, Chouchane, Lotfi, Boubaker, Mohamed Samir, Abdelhak, Sonia, Boussen, Hamouda, Romdhane, Lilia

“…Breast cancer is the most common cancer in women worldwide. Around 50% of breast cancer familial risk has been so far explained by known susceptibility alleles…”
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Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young by Jaouadi, Hager, Bouyacoub, Yosra, Chabrak, Sonia, Kraoua, Lilia, Zaroui, Amira, Elouej, Sahar, Nagara, Majdi, Dallali, Hamza, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mechmeche, Rachid, Zaffran, Stéphane, Abdelhak, Sonia

“…Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie…”
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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis by Ben Rekaya, Mariem, Naouali, Chokri, Messaoud, Olfa, Jones, Meriem, Bouyacoub, Yosra, Nagara, Majdi, Pippucci, Tommaso, Jmel, Haifa, Chargui, Mariem, Jerbi, Manel, Alibi, Mohamed, Dallali, Hamza, Bashamboo, Anu, McElreavey, Kenneth, Romeo, Giovanni, Barakat, Abdelhamid, Zghal, Mohamed, Yacoub-Youssef, Houda, Abdelhak, Sonia

“…•We identify two very rare and under-diagnosed groups of XP, the XP-E and XP-D. These two groups have never been reported in North Africa region.•WES and ROH…”
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Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations by Ben Halima, Yosra, Kefi, Rym, Sazzini, Marco, Giuliani, Cristina, De Fanti, Sara, Nouali, Chokri, Nagara, Majdi, Mengozzi, Giacomo, Elouej, Sahar, Abid, Abdelmajid, Jamoussi, Henda, Chouchane, Lotfi, Romeo, Giovanni, Abdelhak, Sonia, Luiselli, Donata

“…The ability to digest lactose after weaning, namely, lactase persistence (LP), is encoded by polymorphisms in the gene and varies widely in frequency among…”
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Adult Gaucher disease in southern Tunisia: report of three cases by Ben Rhouma, Faten, Kallel, Faten, Kefi, Rym, Cherif, Wafa, Nagara, Majdi, Azaiez, Hela, Jedidi, Ines, Elloumi, Moez, Abdelhak, Sonia, Mseddi, Sondes

“…Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of…”
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FOXP3+/CD68+ ratio within the tumor microenvironment may serve as a potential prognostic factor in classical Hodgkin lymphoma by Zawati, Imen, Adouni, Olfa, Manai, Maroua, Nagara, Majdi, Tacam, Moisis, Reduzzi, Carolina, Gamoudi, Amor, Manai, Mohamed

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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst by Mignon‐Ravix, Cécile, Milh, Mathieu, Kaiser, Charlotte Sophia, Daniel, Jens, Riccardi, Florence, Cacciagli, Pierre, Nagara, Majdi, Busa, Tiffany, Liebau, Eva, Villard, Laurent

“…Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a…”
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Findings of Whole-Exome Sequencing in a Tunisian Man with Congenital Anomalies of Kidney and Ureteral Tract and Dilated Cardiomyopathy: PUB141 by Aloui, Sabra, Nagara, Majdi, Ltaief, Salima, Letaief, Ahmed, salah, Manel Ben, Hamouda, Mouna, salem, Meriem Ben, Skhiri, Habib, Mrad, Ridha, Abdelhak, Sonia

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Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa by Nagara, Majdi, Tiar, Afaf, Ben Halim, Nizar, Ben Rhouma, Faten, Messaoud, Olfa, Bouyacoub, Yosra, Kefi, Rym, Hassayoun, Saida, Zouari, Noura, Ben Ammar, Mohamed Slim, Abdelhak, Sonia, Chemli, Jalel

“…Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited metabolic disease, characterized by progressive kidney failure due to renal deposition…”
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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance by Nagara, Majdi, Papagregoriou, Gregory, Ben Abdallah, Rim, Landoulsi, Zied, Bouyacoub, Yosra, Elouej, Sahar, Kefi, Rym, Pippucci, Tommaso, Voskarides, Konstantinos, Bashamboo, Anu, McElreavey, Kenneth, Hachicha, Mongia, Romeo, Giovanni, Seri, Marco, Deltas, Constantinos, Abdelhak, Sonia

“…Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary…”
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Association of genetic variants in the FTO gene with metabolic syndrome: A case-control study in the Tunisian population by Elouej, Sahar, Nagara, Majdi, Attaoua, Redha, Sallem, Om Kalthoum, Rejeb, Insaf, Hsouna, Sana, Lasram, Khaled, Halim, Nizar Ben, Chargui, Mariem, Jamoussi, Henda, Turki, Zinet, Kamoun, Ines, Belfki-Benali, Hanen, Abid, Abdelmajid, Slama, Claude Ben, Bahri, Sonia, Triki, Dalenda, Romdhane, Habiba Ben, Abdelhak, Sonia, Kefi, Rym, Grigorescu, Florin

“…Abstract Aims Variants in the fat mass and obesity-associated gene ( FTO ) are associated with obesity and type 2 diabetes. However, the association of FTO…”
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Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population by Elouej, Sahar, Rejeb, Insaf, Attaoua, Redha, Nagara, Majdi, Sallem, Om Kalthoum, Kamoun, Ines, Chargui, Mariem, Jamoussi, Henda, Turki, Zinet, Abid, Abdelmajid, Ben Slama, Claude, Bahri, Sonia, Ben Romdhane, Habiba, Abdelhak, Sonia, Kefi, Rym, Grigorescu, Florin

“…Aim of the study: Recent genome-wide association studies (GWASs) have identified many genetic variants associated with metabolic syndrome (MetS). However,…”
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Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity by Ben Halim, Nizar, Nagara, Majdi, Regnault, Béatrice, Hsouna, Sana, Lasram, Khaled, Kefi, Rym, Azaiez, Hela, Khemira, Laroussi, Saidane, Rachid, Ammar, Slim Ben, Besbes, Ghazi, Weil, Dominique, Petit, Christine, Abdelhak, Sonia, Romdhane, Lilia

“…Summary Runs of homozygosity (ROHs) are extended genomic regions of homozygous genotypes that record populations’ mating patterns in the past. We performed…”
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Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia by Ben Halim, Nizar, Hsouna, Sana, Lasram, Khaled, Rejeb, Insaf, Walha, Asma, Talmoudi, Faten, Messai, Habib, Sabrine Ben Brick, Ahlem, Ouragini, Houyem, Cherif, Wafa, Nagara, Majdi, Rhouma, Faten Ben, Chouchene, Ibtissem, Ouechtati, Farah, Bouyacoub, Yosra, Ben Rekaya, Mariem, Messaoud, Olfa, Ben Ammar, Slim, El Matri, Leila, Tebib, Neji, Ben Dridi, Marie F., Mokni, Mourad, Amouri, Ahlem, Kefi, Rym, Abdelhak, Sonia

“…Objectives Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact…”
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Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population by Ben Halim, Nizar, Dorboz, Imen, Kefi, Rym, Kharrat, Najla, Eymard-Pierre, Eleonore, Nagara, Majdi, Romdhane, Lilia, Ben Alaya-Bouafif, Nissaf, Rebai, Ahmed, Miladi, Najoua, Boespflug-Tanguy, Odile, Abdelhak, Sonia

“…Arylsulfatase A (ASA) is a lysosomal enzyme involved in the catabolism of cerebroside sulfate. ASA deficiency is associated with metachromatic leukodystrophy…”
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Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome by Elouej, Sahar, Belfki-Benali, Hanen, Nagara, Majdi, Lasram, Khaled, Attaoua, Redha, Sallem, Om Kalthoum, Kamoun, Ines, Chargui, Mariem, Romdhane, Lilia, Jamoussi, Henda, Turki, Zinet, Abid, Abdelmajid, Ben Slama, Claude, Bahri, Sonia, Abdelhak, Sonia, Grigorescu, Florin, Ben Romdhane, Habiba, Kefi, Rym

“…Variants in the fat mass and obesity-associated (FTO) gene are associated with obesity and type 2 diabetes mellitus. This study aims to assess the association…”
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Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population by Kefi, Rym, Hechmi, Meriem, Dallali, Hamza, Elouej, Sahar, Jmel, Haifa, Halima, Yossra Ben, Nagara, Majdi, Chargui, Mariem, Fadhel, Sihem Ben, Romdhane, Safa, Kamoun, Ines, Turki, Zinet, Abid, Abdelmajid, Bahri, Sonia, Bahlous, Afaf, Gomis, Ramon, Baraket, Abdelhamid, Grigorescu, Florin, Normand, Christophe, Jamoussi, Henda, Abdelhak, Sonia

“…Abstract Aim of the study APOA5 has been linked to metabolic syndrome (MetS) or its traits in several populations. In North Africa, only the Moroccan…”
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Specific aspects of consanguinity: some examples from the Tunisian population by Romdhane, Lilia, Ben Halim, Nizar, Rejeb, Insaf, Kefi, Rym, Bouyacoub, Yosra, Ben Rekaya, Mariem, Messai, Habib, Messaoud, Olfa, Riahi, Zied, Bonnet, Crystel, Ben Rhouma, Faten, Nagara, Majdi, Petit, Christine, McElreavey, Ken, Romeo, Giovanni, Abdelhak, Sonia

“…Located at the cross-road between Europe and Africa, Tunisia is a North African country of 11 million inhabitants. Throughout its history, it has been invaded…”
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A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism by Cherif Ben Abdallah, Lamia, Lakhoua, Youssef, Nagara, Majdi, Khiari, Karima, Elouej, Sahar, Messaoud, Olfa, Bouyacoub, Yosra, Romdhane, Lilia, Turki, Zinet, Abdelhak, Sonia, Ben Abdallah, Nejib

“…The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed…”
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