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A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.
Fendri-Kriaa N, Hsairi I, Kifagi C, Ellouze E, Mkaouar-Rebai E, Triki C, Fakhfakh F; Tunisian network on mental retardation study. Fendri-Kriaa N, et al. Biochem Biophys Res Commun. 2011 Jun 3;409(2):270-4. doi: 10.1016/j.bbrc.2011.04.140. Epub 2011 May 7. Biochem Biophys Res Commun. 2011. PMID: 21575601
Omenn syndrome: two case reports.
Siala N, Azzabi O, Kebaier H, Mrad R, Rebah O, Barbouche R, Bejaoui M, Halioui S, Maherzi A. Siala N, et al. Acta Dermatovenerol Croat. 2013;21(4):259-62. Acta Dermatovenerol Croat. 2013. PMID: 24476615
Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations.
Ouragini H, Cherif F, Brick SA, Nouira S, Floriddia G, Pascucci M, Kefi R, Daoud W, Mahdhaoui N, Kassar S, Mrad R, Kamoun MR, Ben Osman-Dhahri A, Denguezli M, Monastiri K, Seboui H, Mokni M, Boubaker S, Castiglia D, Abdelhak S. Ouragini H, et al. J Dermatol Sci. 2010 Feb;57(2):144-6. doi: 10.1016/j.jdermsci.2009.12.001. Epub 2010 Jan 8. J Dermatol Sci. 2010. PMID: 20060269 No abstract available.
Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).
Essaddam L, Zitouni O, Kraoua L, Trabelsi M, Sassi H, Kmiha S, Charfi F, El Guiche D, Kebaïli R, Jaballah N, Rjeb M, Zouari N, El Aribi Y, Hizem S, Wannes S, Fkih Romdhane I, Sfar MT, Ben Hamouda H, Hadj Salem R, Khlayfia Z, Khmiss T, Monastiri K, Siala N, Chouchane S, Souaa H, Khochtali I, Mahjoub B, Sfar H, Ben Jemâa L, Abroug S, Boughamoura L, Kamoun I, Kamoun T, Mrad R, Ben Becher S. Essaddam L, et al. J Pediatr Endocrinol Metab. 2023 Apr 21;36(6):577-583. doi: 10.1515/jpem-2022-0360. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37084413
Alport syndrome: a genetic study of 31 families.
M'Rad R, Sanak M, Deschenes G, Zhou J, Bonaiti-Pellie C, Holvoet-Vermaut L, Heuertz S, Gubler MC, Broyer M, Grunfeld JP, et al. M'Rad R, et al. Hum Genet. 1992 Dec;90(4):420-6. doi: 10.1007/BF00220471. Hum Genet. 1992. PMID: 1483700
The Tunisian population history through the Crigler-Najjar type I syndrome.
Petit FM, Bézieau S, Gajdos V, Parisot F, Scoul C, Capel L, Stozinic V, Khrouf N, M'Rad R, Koshy A, Mollet-Boudjemline A, Francoual J, Labrune P. Petit FM, et al. Eur J Hum Genet. 2008 Jul;16(7):848-53. doi: 10.1038/sj.ejhg.5201989. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197191
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
99 results