Keskes LA - Search Results

1

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H. Jaouadi A, et al. Among authors: keskes la. Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28. Biochem Biophys Res Commun. 2018. PMID: 29596833

2

Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Mnif MF, Kamoun M, Mnif F, Charfi N, Kallel N, Ben Naceur B, Rekik N, Mnif Z, Sfar MH, Sfar MT, Hachicha M, Keskes LA, Abid M. Mnif MF, et al. Among authors: keskes la. Am J Med Sci. 2012 Nov;344(5):363-73. doi: 10.1097/MAJ.0b013e31824369e4. Am J Med Sci. 2012. PMID: 22270393

3

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Kallabi F, Hadj Salem I, Ben Chehida A, Ben Salah G, Ben Turkia H, Tebib N, Keskes L, Kamoun H. Kallabi F, et al. Neurosci Res. 2015 Aug;97:7-12. doi: 10.1016/j.neures.2015.03.005. Epub 2015 Mar 31. Neurosci Res. 2015. PMID: 25835712

4

Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.

Kallabi F, Ben Rebeh I, Felhi R, Sellami D, Masmoudi S, Keskes L, Kamoun H. Kallabi F, et al. Horm Res Paediatr. 2016;85(1):18-21. doi: 10.1159/000441653. Epub 2015 Nov 24. Horm Res Paediatr. 2016. PMID: 26595337

5

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

Kallabi F, Ellouz E, Tabebi M, Ben Salah G, Kaabechi N, Keskes L, Triki C, Kamoun H. Kallabi F, et al. Clin Chim Acta. 2016 Jan 30;453:141-6. doi: 10.1016/j.cca.2015.12.014. Epub 2015 Dec 12. Clin Chim Acta. 2016. PMID: 26686776

6

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.

Ben Rhouma B, Kallabi F, Mahfoudh N, Ben Mahmoud A, Engeli RT, Kamoun H, Keskes L, Odermatt A, Belguith N. Ben Rhouma B, et al. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):86-94. doi: 10.1016/j.jsbmb.2016.03.007. Epub 2016 Mar 5. J Steroid Biochem Mol Biol. 2017. PMID: 26956191

7

Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.

Felhi R, Mkaouar-Rebai E, Sfaihi-Ben Mansour L, Alila-Fersi O, Tabebi M, Ben Rhouma B, Ammar M, Keskes L, Hachicha M, Fakhfakh F. Felhi R, et al. Biochem Biophys Res Commun. 2016 Apr 22;473(1):61-66. doi: 10.1016/j.bbrc.2016.03.050. Epub 2016 Mar 16. Biochem Biophys Res Commun. 2016. PMID: 26993169

8

Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.

Mkaouar-Rebai E, Felhi R, Tabebi M, Alila-Fersi O, Chamkha I, Maalej M, Ammar M, Kammoun F, Keskes L, Hachicha M, Fakhfakh F. Mkaouar-Rebai E, et al. Biochem Biophys Res Commun. 2016 Apr 29;473(2):578-85. doi: 10.1016/j.bbrc.2016.03.126. Epub 2016 Mar 28. Biochem Biophys Res Commun. 2016. PMID: 27033601

9

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

Kallabi F, Belghuith N, Aloulou H, Kammoun T, Ghorbel S, Hajji M, Gallas S, Chemli J, Chabchoub I, Azzouz H, Ben Chehida A, Sfaihi L, Makni S, Amouri A, Keskes L, Tebib N, Ben Becher S, Hachicha M, Kamoun H. Kallabi F, et al. Arch Med Res. 2016 Feb;47(2):105-10. doi: 10.1016/j.arcmed.2016.04.004. Epub 2016 Apr 28. Arch Med Res. 2016. PMID: 27133709

10

Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.

Ammar M, Tabebi M, Sfaihi L, Alila-Fersi O, Maalej M, Felhi R, Chabchoub I, Keskes L, Hachicha M, Fakhfakh F, Mkaouar-Rebai E. Ammar M, et al. Biochem Biophys Res Commun. 2016 Jun 10;474(4):702-708. doi: 10.1016/j.bbrc.2016.05.014. Epub 2016 May 4. Biochem Biophys Res Commun. 2016. PMID: 27155156

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