Keskes L - Search Results

1

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.

Kallabi F, Ben Salah G, Ben Chehida A, Tabebi M, Felhi R, Ben Turkia H, Tebib N, Keskes L, Kamoun H. Kallabi F, et al. Among authors: keskes l. Biochem Cell Biol. 2016 Jun;94(3):265-9. doi: 10.1139/bcb-2015-0168. Epub 2016 Mar 18. Biochem Cell Biol. 2016. PMID: 27248780

2

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. Among authors: keskes l. Neurosci Res. 2015 Aug;97:7-12. doi: 10.1016/j.neures.2015.03.005. Epub 2015 Mar 31. Neurosci Res. 2015. PMID: 25835712

3

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. Among authors: keskes l. Horm Res Paediatr. 2016;85(1):18-21. doi: 10.1159/000441653. Epub 2015 Nov 24. Horm Res Paediatr. 2016. PMID: 26595337

4

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. Among authors: keskes l. 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

5

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. Among authors: keskes l. 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

6

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. Among authors: keskes l. 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

7

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. Among authors: keskes l. 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

8

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. Among authors: keskes l. 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

9

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. Among authors: keskes l. 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

10

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.

Kallabi F, Ben Rhouma B, Baklouti S, Ghorbel R, Felhi R, Keskes L, Kamoun H. Kallabi F, et al. Among authors: keskes l. Horm Res Paediatr. 2016;86(2):90-93. doi: 10.1159/000446539. Epub 2016 Jul 15. Horm Res Paediatr. 2016. PMID: 27414811 Clinical Trial.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

62 results

Search Page