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Page 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: tabebi m. 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
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: tabebi m. 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
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F. Tabebi M, et al. Biochem Biophys Res Commun. 2015 Apr 10;459(3):353-60. doi: 10.1016/j.bbrc.2015.01.151. Epub 2015 Feb 19. Biochem Biophys Res Commun. 2015. PMID: 25701779
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: tabebi m. 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
First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy.
Alila-Fersi O, Tabebi M, Maalej M, Belguith N, Keskes L, Mkaouar-Rebai E, Fakhfakh F. Alila-Fersi O, et al. Among authors: tabebi m. Biochem Biophys Res Commun. 2018 Mar 18;497(4):1049-1054. doi: 10.1016/j.bbrc.2018.02.173. Epub 2018 Feb 23. Biochem Biophys Res Commun. 2018. PMID: 29481798
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: tabebi m. 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
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