Publications by authors named "Saber Masmoudi"

51Publications

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.

BMC Med Genet 2020 06 3;21(1):122. Epub 2020 Jun 3.

Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, University of Sfax, Road Sidi Mansour Km 6, BP 1177, 3018, Sfax, Tunisia.

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June 2020

Gene duplication and functional divergence of the zebrafish otospiralin genes.

Dev Genes Evol 2020 01 14;230(1):27-36. Epub 2019 Dec 14.

Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia.

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January 2020

Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.

Mol Biol Rep 2019 Apr 7;46(2):2139-2145. Epub 2019 Feb 7.

Laboboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Sfax, Tunisia.

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April 2019

Methylation Status and Presbycusis Risk in Elderly Women.

Front Aging Neurosci 2018 7;10:241. Epub 2018 Aug 7.

Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia.

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August 2018

Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.

Biomarkers 2018 May - Jun;23(4):347-356. Epub 2018 Jan 31.

a Laboratoire de Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax , Université de Sfax , Sfax , Tunisie.

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September 2018

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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October 2017

Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.

Eur J Med Genet 2016 Sep 12;59(9):444-51. Epub 2016 Aug 12.

Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Tunisia.

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September 2016

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Mol Vis 2016 19;22:827-35. Epub 2016 Jul 19.

Laboratoire de Procédés de criblage moléculaire et cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Tunisie.

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January 2018

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

Horm Res Paediatr 2016 24;85(1):18-21. Epub 2015 Nov 24.

Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.

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October 2016

Genetic diversity and haplotype structure of 21 Y-STRs, including nine noncore loci, in South Tunisian Population: Forensic relevance.

Electrophoresis 2015 Dec 15;36(23):2908-13. Epub 2015 Oct 15.

Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Sfax, Tunisie.

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December 2015

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Mol Genet Genomics 2015 Aug 30;290(4):1327-34. Epub 2015 Jan 30.

Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.

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August 2015