Aloulou H - Search Results

1

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, Abdelhak S. Nagara M, et al. Among authors: aloulou h. Genet Test Mol Biomarkers. 2014 Nov;18(11):741-8. doi: 10.1089/gtmb.2014.0175. Epub 2014 Oct 6. Genet Test Mol Biomarkers. 2014. PMID: 25285676 Free PMC article. Clinical Trial.

2

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. Among authors: aloulou h. 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

3

A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles.

Mkaouar-Rebai E, Chamkha I, Kammoun T, Chabchoub I, Aloulou H, Fendri N, Hachicha M, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: aloulou h. Mitochondrion. 2010 Aug;10(5):449-55. doi: 10.1016/j.mito.2010.04.003. Epub 2010 Apr 11. Mitochondrion. 2010. PMID: 20388556

4

[Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases].

Aloulou H, Ben Thabet A, Khanfir S, Ben Mansour L, Chabchoub I, Labrune P, Kammoun T, Hachicha M. Aloulou H, et al. Tunis Med. 2010 Oct;88(10):707-9. Tunis Med. 2010. PMID: 20890816 French.

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. Among authors: aloulou h. 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

[Bardet - Biedl syndrome in the child. A study of 11 cases].

Aloulou H, Cheikhrouhou H, Belguith N, Ben Ameur S, Ben Mansour L, Chabchoub I, Kammoun T, Hachicha M. Aloulou H, et al. Tunis Med. 2011 Jan;89(1):31-6. Tunis Med. 2011. PMID: 21267825 French.

7

A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions.

Ayed IB, Chamkha I, Mkaouar-Rebai E, Kammoun T, Mezghani N, Chabchoub I, Aloulou H, Hachicha M, Fakhfakh F. Ayed IB, et al. Among authors: aloulou h. Biochem Biophys Res Commun. 2011 Jul 29;411(2):381-6. doi: 10.1016/j.bbrc.2011.06.154. Epub 2011 Jun 29. Biochem Biophys Res Commun. 2011. PMID: 21741369

8

Nephropathic infantile form of cystinosis about one case.

Sfaihi L, Aloulou H, Ben Amor S, Kamoun T, Hachicha M. Sfaihi L, et al. Among authors: aloulou h. Fetal Pediatr Pathol. 2013 Feb;31(1):66-70. doi: 10.3109/15513815.2012.671445. Epub 2012 Apr 12. Fetal Pediatr Pathol. 2013. PMID: 22497686

9

Febrile seizures: an epidemiological and outcome study of 482 cases.

Sfaihi L, Maaloul I, Kmiha S, Aloulou H, Chabchoub I, Kamoun T, Hachicha M. Sfaihi L, et al. Among authors: aloulou h. Childs Nerv Syst. 2012 Oct;28(10):1779-84. doi: 10.1007/s00381-012-1789-6. Epub 2012 May 9. Childs Nerv Syst. 2012. PMID: 22570169

10

A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.

Chamkha I, Alila-Fersi O, Mkaouar-Rebai E, Aloulou H, Kifagi C, Hachicha M, Fakhfakh F. Chamkha I, et al. Among authors: aloulou h. Biochem Biophys Res Commun. 2012 Dec 7;429(1-2):31-8. doi: 10.1016/j.bbrc.2012.10.105. Epub 2012 Nov 3. Biochem Biophys Res Commun. 2012. PMID: 23131568

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