Fakhfakh F - Search Results

1

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Khabou B, Hsairi M, Gargouri L, Miled N, Barbu V, Fakhfakh F. Khabou B, et al. Among authors: fakhfakh f. Clin Chim Acta. 2021 Jul;518:43-50. doi: 10.1016/j.cca.2021.03.006. Epub 2021 Mar 10. Clin Chim Acta. 2021. PMID: 33713692

2

Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency.

Louhichi N, Haj Salem I, Medhaffar M, Miled N, Hadji AF, Keskes L, Fakhfakh F. Louhichi N, et al. Among authors: fakhfakh f. Blood Coagul Fibrinolysis. 2017 Apr;28(3):237-243. doi: 10.1097/MBC.0000000000000587. Blood Coagul Fibrinolysis. 2017. PMID: 27427785

3

In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.

Khabou B, Siala-Sahnoun O, Gargouri L, Mkaouar-Rebai E, Keskes L, Hachicha M, Fakhfakh F. Khabou B, et al. Among authors: fakhfakh f. Comput Biol Chem. 2016 Dec;65:103-109. doi: 10.1016/j.compbiolchem.2016.10.008. Epub 2016 Oct 22. Comput Biol Chem. 2016. PMID: 27788395

4

Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.

Alila-Fersi O, Chamkha I, Majdoub I, Gargouri L, Mkaouar-Rebai E, Tabebi M, Tlili A, Keskes L, Mahfoudh A, Fakhfakh F. Alila-Fersi O, et al. Among authors: fakhfakh f. Biochem Biophys Res Commun. 2017 Feb 26;484(1):71-78. doi: 10.1016/j.bbrc.2017.01.070. Epub 2017 Jan 16. Biochem Biophys Res Commun. 2017. PMID: 28104394

5

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

Khabou B, Durand-Schneider AM, Delaunay JL, Aït-Slimane T, Barbu V, Fakhfakh F, Housset C, Maurice M. Khabou B, et al. Among authors: fakhfakh f. Int J Biochem Cell Biol. 2017 Aug;89:101-109. doi: 10.1016/j.biocel.2017.05.028. Epub 2017 Jun 3. Int J Biochem Cell Biol. 2017. PMID: 28587926

6

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

Jdila MB, Issa AB, Khabou B, Rhouma BB, Kamoun F, Ammar-Keskes L, Triki C, Fakhfakh F. Jdila MB, et al. Among authors: fakhfakh f. Clin Chim Acta. 2017 Oct;473:51-59. doi: 10.1016/j.cca.2017.08.001. Epub 2017 Aug 3. Clin Chim Acta. 2017. PMID: 28780406

7

Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.

Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, Tabbebi M, Felhi R, Ammar M, Mkaouar-Rebai E, Keskes L, Boughamoura L, Fakhfakh F. Maalej M, et al. Among authors: fakhfakh f. Biochem Biophys Res Commun. 2018 Jan 8;495(2):1730-1737. doi: 10.1016/j.bbrc.2017.12.011. Epub 2017 Dec 5. Biochem Biophys Res Commun. 2018. PMID: 29217198

8

Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.

Khabou B, Mahjoub B, Barbu V, Balhoudi N, Wardani A, Sfar MT, Fakhfakh F. Khabou B, et al. Among authors: fakhfakh f. Clin Chim Acta. 2018 Nov;486:122-128. doi: 10.1016/j.cca.2018.07.035. Epub 2018 Jul 20. Clin Chim Acta. 2018. PMID: 30036524

9

Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene.

Khabou B, Tabebi M, Siala-Sahnoun O, Mkaouar-Rebai E, Rebai A, Fakhfakh F. Khabou B, et al. Among authors: fakhfakh f. Ann Hum Genet. 2018 Nov;82(6):457-468. doi: 10.1111/ahg.12276. Epub 2018 Aug 5. Ann Hum Genet. 2018. PMID: 30079523

10

Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD.

Issa AB, Feki FK, Jdila MB, Khabou B, Rhouma BB, Ammar-Keskes L, Triki C, Fakhfakh F. Issa AB, et al. Among authors: fakhfakh f. J Mol Neurosci. 2018 Sep;66(1):17-25. doi: 10.1007/s12031-018-1141-z. Epub 2018 Aug 6. J Mol Neurosci. 2018. PMID: 30083785

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