Mkaouar-Rebai E - Search Results

1

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.

Mkaouar-Rebai E, Fendri-Kriaa N, Louhichi N, Tlili A, Triki C, Ghorbel A, Masmoudi S, Fakhfakh F. Mkaouar-Rebai E, et al. Biosci Rep. 2010 Dec;30(6):405-11. doi: 10.1042/BSR20090120. Biosci Rep. 2010. PMID: 20055758

2

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. 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.

3

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. 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

4

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. 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

5

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F. Chamkha I, et al. Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6. Biochem Biophys Res Commun. 2011. PMID: 21144833

6

New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.

Fendri-Kriaa N, Kammoun F, Salem IH, Kifagi C, Mkaouar-Rebai E, Hsairi I, Rebai A, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Eur J Neurol. 2011 May;18(5):695-702. doi: 10.1111/j.1468-1331.2010.03216.x. Epub 2010 Oct 6. Eur J Neurol. 2011. PMID: 21040232

7

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

Mkaouar-Rebai E, Chamkha I, Kammoun F, Kammoun T, Aloulou H, Hachicha M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Mol Genet Metab. 2009 Jul;97(3):179-84. doi: 10.1016/j.ymgme.2009.03.003. Epub 2009 Mar 16. Mol Genet Metab. 2009. PMID: 19349200

8

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.

Mkaouar-Rebai E, Chaari W, Younes S, Bousoffara R, Sfar MT, Fakhfakh F. Mkaouar-Rebai E, et al. Pediatr Neurol. 2009 Jun;40(6):437-42. doi: 10.1016/j.pediatrneurol.2009.01.004. Pediatr Neurol. 2009. PMID: 19433277

9

Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect.

Louhichi N, Medhaffar M, Hadjsalem I, Mkaouar-Rebai E, Fendri-Kriaa N, Kanoun H, Yaïch F, Souissi T, Elloumi M, Fakhfakh F. Louhichi N, et al. Ann Hematol. 2010 May;89(5):499-504. doi: 10.1007/s00277-009-0863-y. Epub 2009 Nov 24. Ann Hematol. 2010. PMID: 19937244

10

The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes.

Mezghani N, Mkaouar-Rebai E, Mnif M, Charfi N, Rekik N, Youssef S, Abid M, Fakhfakh F. Mezghani N, et al. J Diabetes Complications. 2010 Jul-Aug;24(4):270-7. doi: 10.1016/j.jdiacomp.2009.11.002. Epub 2010 Jan 4. J Diabetes Complications. 2010. PMID: 20045353

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