Search Results - "MAHFOUDH, Nadia"

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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Exploring the role of vitamin D-VDR pathway in pemphigus foliaceous: a novel perspective on disease pathogenesis by Tahri, Safa, Elloumi, Nesrine, Khabou, Boudour, Frikha, Rim, Turki, Hamida, Mahfoudh, Nadia, Bahloul, Emna, Hachicha, Hend, Masmoudi, Hatem, Abida, Olfa

“…Several auto-immune diseases have been linked to vitamin D deficiency as a contributing environmental factor. Its pleiotropic effects on the immune system,…”
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A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation by Hörer, Steffen, Marrakchi, Slaheddine, Radner, Franz P.W., Zolles, Gerd, Heinz, Lisa, Eichmann, Thomas O., Has, Cristina, Salavei, Pavel, Mahfoudh, Nadia, Turki, Hamida, Zimmer, Andreas D., Fischer, Judith

“…Trichilemmal cysts are common hair follicle–derived intradermal cysts. The trait shows an autosomal dominant mode of transmission with incomplete penetrance…”
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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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HLA Class III: A susceptibility region to systemic lupus erythematosus in Tunisian population by Hachicha, Hend, Mahfoudh, Nadia, Fourati, Hajer, Elloumi, Nesrine, Marzouk, Sameh, Feki, Sawsan, Fakhfakh, Raouia, Frikha, Faten, Ayadi, Abir, Maatoug, Amira, Gaddour, Lilia, Hakim, Feiza, Bahloul, Zouheir, Makni, Hafedh, Masmoudi, Hatem, Kammoun, Arwa

“…Short tandem repeats (STR) are usually used as informative polymorphic markers for genetic mapping and for disease susceptibility analysis. The involvement of…”
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Microsatellite analysis of Candida isolates from recurrent vulvovaginal candidiasis by AMOURI, Imen, SELLAMI, Hayet, ABBES, Salma, HADRICH, Ines, MAHFOUDH, Nadia, MAKNI, Hafedh, AYADI, Ali

“…Candida albicans and Candida glabrata are the most common causative agents of both vulvovaginal candidiasis (VVC) and recurrent vulvovaginal candidiasis…”
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Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus by Abida, Olfa, Elloumi, Nesrine, Bahloul, Emna, Hachicha, Hend, Sellami, Khadija, Fakhfakh, Raouia, Marzouk, Sameh, Ben Ayed, Ikhlas, Mahfoudh, Nadia, Turki, Hamida, Masmoudi, Hatem

“…Background Almost 5% of the world's population develops an autoimmune disease (AID), it is considered the fourth leading cause of disability for women, who…”
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Chromosome 2q33genetic polymorphisms in Tunisian endemic pemphigus foliaceus by Abida, Olfa, Bahloul, Emna, Ben Jmaa, Mariem, Sellami, Khadija, Zouidi, Ferjani, Fakhfakh, Raouia, Mahfoudh, Nadia, Turki, Hamida, Masmoudi, Hatem

“…Background Several studies have suggested that polymorphisms within genes encoding T‐lymphocyte immune regulating molecules: CD28, CTLA‐4, and ICOS, may alter…”
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Extraction Strategy for DNA Recovery from Putrefied Teeth and Skull Bone by Kamoun, Arwa, Amar, Wiem Ben, Mahfoudh, Nadia, Maalej, Leila, Mallek, Bakhta, Nouma, Youssef, Bardaa, Sami, Makni, Hafedh, Maatoug, Samir

“…Forensic samples are commonly exposed to harsh environmental conditions which affect the degree of sample (DNA) preservation and subsequent genetic profiling…”
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Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility by Elloumi, Nesrine, Tahri, Safa, Fakhfakh, Raouia, Abida, Olfa, Mahfoudh, Nadia, Hachicha, Hend, Marzouk, Sameh, Bahloul, Zouhir, Masmoudi, Hatem

“…Aim Through their recognition of various bacterial cell wall components, TLR2 and TLR4 participate in the innate response and modulate the activation of…”
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Molecular Genotyping of Candida parapsilosis Species Complex by Neji, Sourour, Hadrich, Ines, Ilahi, Amine, Trabelsi, Houaida, Chelly, Hedi, Mahfoudh, Nadia, Cheikhrouhou, Fatma, Sellami, Hayet, Makni, Fattouma, Ayadi, Ali

“…Background The Candida parapsilosis complex species has emerged as an important cause of human disease. The molecular identification of C. parapsilosis…”
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Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect by Ben Rhouma, Bochra, Kallabi, Fakhri, Mahfoudh, Nadia, Ben Mahmoud, Afif, Engeli, Roger T., Kamoun, Hassen, Keskes, Leila, Odermatt, Alex, Belguith, Neila

“…•We describe novel mutations in the HSD17B3 gene causing 46, XY DSD in the Tunisian population.•We show that carriers of the p.C206X mutation harbor the same…”
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The most frequent HLA alleles around the world: A fundamental synopsis by Sanchez-Mazas, Alicia, Nunes, José Manuel, Di, Da, Dominguez, Enrique Alanis, Gerbault, Pascale, Faye, Ndeye Khady, Almawi, Wassim, Andreani, Marco, Arrieta-Bolanos, Esteban, Augusto, Danillo G., Buhler, Stéphane, de Groot, Natasja G., Díaz-Peña, Roberto, D'Silva, Selma, Dubois, Valérie, ElGhazali, Gehad, Gorodezky, Clara, Grubić, Zorana, Hajeer, Ali, Hollenbach, Jill, Issler, Hellen C., Ivanova, Milena, Jawdat, Dunia, Kanga, Uma, Kirijas, Meri, Lemieux, William, Loginova, Maria, Mahfoudh, Nadia, Mehra, Narinder, Mouron, Delphine, Petřek, Martin, Petzl-Erler, Maria Luiza, Richard, Lucie, Roelen, Dave L., Sacchi, Nicoletta, Sharma, Akanksha, Singh, Bisu, Singh, Meenakshi, Singh, Yoginder, Tarassi, Katerina, Vidan-Jeras, Blanka, Villard, Jean

“…A comprehensive knowledge of human leukocyte antigen (HLA) molecular variation worldwide is essential in human population genetics research and disease…”
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Association of HLA Alleles with Primary Sjögren Syndrome in the South Tunisian Population by Charfi, Aida, Mahfoudh, Nadia, Kamoun, Arwa, Frikha, Feten, Dammak, Chifa, Gaddour, Lilia, Hakim, Feiza, Maalej, Leila, Mallek, Bakhta, Kammoun, Ines, Bahloul, Zouhir, Makni, Hafedh

“…Objective: In order to investigate human leukocyte antigen (HLA) genes predisposing to primary Sjögren syndrome (pSS), we conducted an association study using…”
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Combining Autosomal and Y-Chromosomal Short Tandem Repeat Data in Paternity Testing with Male Child: Methods and Application by Ayadi, Imen, Mahfoudh-Lahiani, Nadia, Makni, Hafedh, Ammar-Keskes, Leila, Rebaï, Ahmed

“…:  Paternity testing is being increasingly requested with the aim of challenging presumptive fatherhood. The ability to establish the biological father is…”
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Novel cases of Tunisian patients with mutations in the gene encoding 17ß-hydroxysteroid dehydrogenase type 3 and a founder effect by Rhouma, Bochra Ben, Kallabi, Fakhri, Mahfoudh, Nadia, Mahmoud, Afif Ben, Engeli, Roger T, Kamoun, Hassen, Keskes, Leila, Odermatt, Alex, Belguith, Neila

“…17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed almost exclusively in the testis and converts Δ4-androstene-3,17-dione to testosterone…”
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Genetic diversity and haplotype structure of 21 Y‐STRs, including nine noncore loci, in South Tunisian Population: Forensic relevance by Makki‐Rmida, Faten, Kammoun, Arwa, Mahfoudh, Nadia, Ayadi, Adnene, Gibriel, Abdullah Ahmed, Mallek, Bakhta, Maalej, Leila, Hammami, Zouheir, Maatoug, Samir, Makni, Hafedh, Masmoudi, Saber

“…Y chromosome STRs (Y‐STRs) are being used frequently in forensic laboratories. Previous studies of Y‐STR polymorphisms in different groups of the Tunisian…”
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Analysis of two susceptibility SNPs in HLA region and evidence of interaction between rs6457617 in HLA-DQB1 and HLA-DRB104 locus on Tunisian rheumatoid arthritis by Achour, Yosser, Ben Hamad, Mariem, Chaabane, Souhir, Rebai, Ahmed, Marzouk, Sameh, Mahfoudh, Nadia, Bahloul, Zouhir, Keskes, Leila, Maalej, Abdellatif

“…Previous genomewide association studies (GWAS) and meta-analyses have enumerated several genes/loci in major histocompatibility complex region, which are…”
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Chromosome 2q33 genetic polymorphisms in Tunisian endemic pemphigus foliaceus by Abida, Olfa, Bahloul, Emna, Ben Jmaa, Mariem, Sellami, Khadija, Zouidi, Ferjani, Fakhfakh, Raouia, Mahfoudh, Nadia, Turki, Hamida, Masmoudi, Hatem

“…BackgroundSeveral studies have suggested that polymorphisms within genes encoding T‐lymphocyte immune regulating molecules: CD28, CTLA‐4, and ICOS, may alter…”
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Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia by ElAoud, Sahar, Kamoun, Arwa, Mahfoudh, Nadia, Charfi, Aida, Snoussi, Mouna, Hachicha, Hend, Jerbi, Ameni, Dammak, Chifa, Frikha, Feten, Hakim, Faiza, Gaddour, Lilia, Bahloul, Zouheir, Makni, Hafedh

“…Objective: The aim of this work was to establish human leukocyte antigen (HLA) class I and hereditary hemochromatosis gene (HFE) mutation associations with…”
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