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Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL. Prando C, et al. Among authors: bouguila j. Medicine (Baltimore). 2013 Mar;92(2):109-122. doi: 10.1097/MD.0b013e31828a01f9. Medicine (Baltimore). 2013. PMID: 23429356 Free PMC article.
Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.
Ben-Mustapha I, Ben-Farhat K, Guirat-Dhouib N, Dhemaied E, Larguèche B, Ben-Ali M, Chemli J, Bouguila J, Ben-Mansour L, Mellouli F, Khemiri M, Béjaoui M, Barbouche MR. Ben-Mustapha I, et al. Among authors: bouguila j. J Clin Immunol. 2013 May;33(4):865-70. doi: 10.1007/s10875-013-9863-8. Epub 2013 Jan 13. J Clin Immunol. 2013. PMID: 23314770
A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.
Ben-Mustapha I, Ben-Ali M, Mekki N, Patin E, Harmant C, Bouguila J, Elloumi-Zghal H, Harbi A, Béjaoui M, Boughammoura L, Chemli J, Barbouche MR. Ben-Mustapha I, et al. Among authors: bouguila j. Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0. Epub 2013 Oct 15. Immunogenetics. 2014. PMID: 24127073
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M. Mellouli F, et al. Among authors: bouguila j. J Clin Immunol. 2015 Nov;35(8):745-53. doi: 10.1007/s10875-015-0206-9. Epub 2015 Oct 13. J Clin Immunol. 2015. PMID: 26464197 Review.
Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.
Ben Charfeddine I, Ben Lazreg T, M'sakni A, Amara A, Mlika A, Chaïeb A, Hlel K, Zouari N, Zbidi F, Bouguila J, Soyah N, Ayedi A, Ben Hamouda H, Abroug S, Boughamoura L, Saad A, Gribaa M. Ben Charfeddine I, et al. Among authors: bouguila j. Hemoglobin. 2015;39(4):251-5. doi: 10.3109/03630269.2015.1041605. Epub 2015 May 27. Hemoglobin. 2015. PMID: 26016902
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090
Does Ramadan Fasting Affect Spirometric Data of Healthy Adolescents?
Ben Fraj S, Miladi A, Guezguez F, Ben Rejeb M, Bouguila J, Gargouri I, Rouatbi S, Latiri I, Ben Saad H. Ben Fraj S, et al. Among authors: bouguila j. Clin Med Insights Pediatr. 2019 Jul 25;13:1179556519862280. doi: 10.1177/1179556519862280. eCollection 2019. Clin Med Insights Pediatr. 2019. PMID: 31384137 Free PMC article.
Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.
Hamouda S, Fredj SH, Hilioui S, Khalsi F, Ameur SB, Bouguila J, Boussoffara R, Besbes H, Ajmi H, Mattoussi N, Messaoud T, Mehrezi A, Hachicha M, Boughamoura L, Sfar MT, Gueddiche N, Abroug S, Becheur SB, Barsaoui S, Tebib N, Samoud A, Gandoura N, Tinsa F, Boussetta K. Hamouda S, et al. Among authors: bouguila j. Afr Health Sci. 2020 Mar;20(1):444-452. doi: 10.4314/ahs.v20i1.51. Afr Health Sci. 2020. PMID: 33402933 Free PMC article.
77 results