Fakhfakh F - Search Results

1

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. Among authors: fakhfakh f. 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

2

[Molecular analysis of ten families with Duchenne muscular atrophy].

Fakhfakh F, Mhiri C, Triki C, Ayadi H. Fakhfakh F, et al. Tunis Med. 1996 Mar;74(3):113-8. Tunis Med. 1996. PMID: 9507291 French. No abstract available.

3

[Duchenne muscular dystrophy: clinico-pathologic study of 10 families from South Tunisia].

Mhiri C, Triki C, Fakhfakh F, Chouayakh F, Fki I, Jlidi R, Ayadi H, Zouari N. Mhiri C, et al. Among authors: fakhfakh f. Tunis Med. 1996 Feb;74(2):85-92. Tunis Med. 1996. PMID: 9507303 French. No abstract available.

4

[Detection of fragile X syndrome by molecular hybridization in 29 families affected by hereditary mental retardation].

Masmoudi S, Keskes L, Feki I, Fakhfakh F, Triki C, Ghribi F, Mhiri C, Ayadi H. Masmoudi S, et al. Among authors: fakhfakh f. Tunis Med. 1998 Aug-Sep;76(8-9):244-9. Tunis Med. 1998. PMID: 9810860 French. No abstract available.

5

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F. Louhichi N, et al. Among authors: fakhfakh f. Neurogenetics. 2004 Feb;5(1):27-34. doi: 10.1007/s10048-003-0165-9. Epub 2003 Dec 2. Neurogenetics. 2004. PMID: 14652796 Free PMC article.

6

Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: fakhfakh f. Biochem Biophys Res Commun. 2006 Feb 24;340(4):1251-8. doi: 10.1016/j.bbrc.2005.12.123. Epub 2006 Jan 5. Biochem Biophys Res Commun. 2006. PMID: 16406239 Clinical Trial.

7

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: fakhfakh f. Biochem Biophys Res Commun. 2007 Apr 20;355(4):1031-7. doi: 10.1016/j.bbrc.2007.02.083. Epub 2007 Feb 26. Biochem Biophys Res Commun. 2007. PMID: 17336924

8

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Siala O, Louhichi N, Triki C, Morinière M, Rebai A, Richard P, Guicheney P, Baklouti F, Fakhfakh F. Siala O, et al. Among authors: fakhfakh f. Genet Test. 2007 Fall;11(3):199-207. doi: 10.1089/gte.2006.0517. Genet Test. 2007. PMID: 17949279

9

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.

Siala O, Louhichi N, Triki C, Morinière M, Fakhfakh F, Baklouti F. Siala O, et al. Among authors: fakhfakh f. Neuromuscul Disord. 2008 Feb;18(2):137-45. doi: 10.1016/j.nmd.2007.09.003. Epub 2007 Nov 28. Neuromuscul Disord. 2008. PMID: 18053718

10

New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Charfeddine I, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: fakhfakh f. Biochem Biophys Res Commun. 2008 May 9;369(3):849-52. doi: 10.1016/j.bbrc.2008.02.107. Epub 2008 Mar 4. Biochem Biophys Res Commun. 2008. PMID: 18325329

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