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Page 1
A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.
Fendri-Kriaa N, Hsairi I, Kifagi C, Ellouze E, Mkaouar-Rebai E, Triki C, Fakhfakh F; Tunisian network on mental retardation study. Fendri-Kriaa N, et al. Biochem Biophys Res Commun. 2011 Jun 3;409(2):270-4. doi: 10.1016/j.bbrc.2011.04.140. Epub 2011 May 7. Biochem Biophys Res Commun. 2011. PMID: 21575601
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
A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
Fendri-Kriaa N, Boujilbene S, Kammoun F, Mkaouar-Rebai E, Ben Mahmoud A, Hsairi I, Rebai A, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Biochem Biophys Res Commun. 2011 May 20;408(4):654-7. doi: 10.1016/j.bbrc.2011.04.079. Epub 2011 Apr 21. Biochem Biophys Res Commun. 2011. PMID: 21531204
Novel double deletions in the MECP2 gene in Tunisian Rett patient.
Fendri-Kriaa N, Rouissi A, Ghorbel R, Mkaouar-Rebai E, Belguith N, Gouider-Khouja N, Fakhfakh F. Fendri-Kriaa N, et al. Gene. 2012 Jul 10;502(2):163-7. doi: 10.1016/j.gene.2012.04.028. Epub 2012 Apr 25. Gene. 2012. PMID: 22561697
A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations.
Kharrat M, Hsairi I, Fendri-Kriaa N, Kenoun H, Othmen HB, Ben Mahmoud A, Ghorbel R, Abid I, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: fendri kriaa n. J Child Neurol. 2015 Nov;30(13):1715-21. doi: 10.1177/0883073815578529. Epub 2015 Apr 10. J Child Neurol. 2015. PMID: 25862735
Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.
Kharrat M, Kamoun Y, Kamoun F, Ellouze E, Maalej M, Fendri-Kriaa N, Ammar-Keskes L, Belghith N, Gargouri A, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: fendri kriaa n. J Child Neurol. 2017 Jul;32(8):694-703. doi: 10.1177/0883073817701622. Epub 2017 Apr 11. J Child Neurol. 2017. PMID: 28399682
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