SARS-CoV-2 tracking in Tunisia through next-generation sequencing: lessons for the future

Autor Rebai, Ahmed, Souissi, Amal, Abid, Nabil, Masmoudi, Saber
Vydáno v EuroMediterr J Environ Integr (2021)

Transcriptomic Analysis of the Developing and Adult Mouse Cochlear Sensory Epithelia

Autor Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
Vydáno 2012

Correction: Transcriptomic analysis of the developing and adult mouse cochlear sensory epithelia

Autor Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
Vydáno v PLoS One (2020)

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

Autor Belguith, Hanen, Masmoudi, Saber, Medlej-Hashim, Myrna, Chouery, Eliane, Weil, Dominique, Ayadi, Hammadi, Petit, Christine, Mégarbané, André
Vydáno 2009

CDH23 Methylation Status and Presbycusis Risk in Elderly Women

Autor Bouzid, Amal, Smeti, Ibtihel, Chakroun, Amine, Loukil, Salma, Gibriel, Abdullah Ahmed, Grati, Mhamed, Ghorbel, Abdelmonem, Masmoudi, Saber
Vydáno v Front Aging Neurosci (2018)

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

Autor Ben-Rebeh, Imen, Grati, Mhamed, Bonnet, Crystel, Bouassida, Walid, Hadjamor, Imen, Ayadi, Hammadi, Ghorbel, Abdelmonem, Petit, Christine, Masmoudi, Saber
Vydáno v Mol Vis (2016)

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

Autor Hadj-Kacem, Hassen, Kallel, Rihab, Belguith-Maalej, Salima, Mnif, Mouna, Charfeddine, Ilhem, Ghorbel, Abdelmounem, Abid, Mohamed, Ayadi, Hammadi, Masmoudi, Saber
Vydáno 2010

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

Autor Ben Rebeh, Imen, Morinière, Madeleine, Ayadi, Leila, Benzina, Zeineb, Charfedine, Ilhem, Feki, Jamel, Ayadi, Hammadi, Ghorbel, Abdelmonem, Baklouti, Faouzi, Masmoudi, Saber
Vydáno 2010

Long-term Clinical Follow-up and Molecular Testing for Diagnosis of the First Tunisian Family with Alström Syndrome

Autor Chakroun, Amine, Ben said, Mariem, Ennouri, Amine, Achour, Imen, Mnif, Mouna, Abid, Mohamed, Ghorbel, Abdelmonem, Marshall, Jan D, Naggert, Jürgen K, Masmoudi, Saber
Vydáno v Eur J Med Genet (2016)

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

Autor Bouzid, Amal, Tekari, Adel, Jbeli, Fida, Chakroun, Amine, Hansdah, Kirtal, Souissi, Amal, Singh, Neha, Mosrati, Mohamed Ali, Achour, Imen, Ghorbel, Abdelmonem, Charfeddine, Ilhem, Ramchander, Puppala Venkat, Masmoudi, Saber
Vydáno v BMC Med Genet (2020)

High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

Autor Saïd, Mariem Ben, Hmani-Aifa, Mounira, Amar, Imen, Baig, Shahid Mahmood, Mustapha, Mirna, Delmaghani, Sedigheh, Tlili, Abdelaziz, Ghorbel, Abdelmonem, Ayadi, Hammadi, Van Camp, Guy, Smith, Richard J.H., Tekin, Mustafa, Masmoudi, Saber
Vydáno 2010

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

Autor Grati, M'hamed, Chakchouk, Imen, Ma, Qi, Bensaid, Mariem, Desmidt, Alexandra, Turki, Nouha, Yan, Denise, Baanannou, Aissette, Mittal, Rahul, Driss, Nabil, Blanton, Susan, Farooq, Amjad, Lu, Zhongmin, Liu, Xue Zhong, Masmoudi, Saber
Vydáno v Hum Mol Genet (2015)

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

Autor Souissi, Amal, Ben Said, Mariem, Ben Ayed, Ikhlas, Elloumi, Ines, Bouzid, Amal, Mosrati, Mohamed Ali, Hasnaoui, Mehdi, Belcadhi, Malek, Idriss, Nabil, Kamoun, Hassen, Gharbi, Nourhene, Gibriel, Abdullah A., Tlili, Abdelaziz, Masmoudi, Saber
Vydáno v J Adv Res (2021)

Identification of candidate regions for a novel Usher syndrome type II locus

Autor Ben Rebeh, Imen, Benzina, Zeineb, Dhouib, Houria, Hadjamor, Imen, Amyere, Mustapha, Ayadi, Leila, Turki, Khalil, Hammami, Bouthaina, Kmiha, Noureddine, Kammoun, Hassen, Hakim, Bochra, Charfedine, Ilhem, Vikkula, Miikka, Ghorbel, Abdelmonem, Ayadi, Hammadi, Masmoudi, Saber
Vydáno 2008

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

Autor Chakchouk, Imen, Grati, M’hamed, Bademci, Guney, Bensaid, Mariem, Ma, Qi, Chakroun, Amine, Foster, Joseph, Yan, Denise, Duman, Duygu, Diaz-Horta, Oscar, Ghorbel, Abdelmonem, Mittal, Rahul, Farooq, Amjad, Tekin, Mustafa, Masmoudi, Saber, Liu, Xue Zhong
Vydáno v Mol Genet Genomics (2015)

MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform

Autor Grati, M’hamed, Yan, Denise, Raval, Manmeet H., Walsh, Tom, Ma, Qi, Chakchouk, Imen, Kannan-Sundhari, Abhiraami, Mittal, Rahul, Masmoudi, Saber, Blanton, Susan H., Tekin, Mustafa, King, Mary-Claire, Yengo, Christopher M., Liu, Xue Zhong
Vydáno v Hum Mutat (2016)

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

Autor Ben Said, Mariem, Grati, M’hamed, Ishimoto, Takahiro, Zou, Bing, Chakchouk, Imen, Ma, Qi, Yao, Qi, Hammami, Bouthaina, Yan, Denise, Mittal, Rahul, Nakamichi, Noritaka, Ghorbel, Abdelmonem, Neng, Lingling, Tekin, Mustafa, Shi, Xiao Rui, Kato, Yukio, Masmoudi, Saber, Lu, Zhongmin, Hmani, Mounira, Liu, Xuezhong
Vydáno v Hum Genet (2016)

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

Autor Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine
Vydáno v Am J Hum Genet (2017)

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Autor Ahmed, Zubair M, Masmoudi, Saber, Kalay, Ersan, Belyantseva, Inna A, Mosrati, Mohamed Ali, Collin, Rob W J, Riazuddin, Saima, Hmani-Aifa, Mounira, Venselaar, Hanka, Kawar, Mayya N, Abdelaziz, Tlili, van der Zwaag, Bert, Khan, Shahid Y, Ayadi, Leila, Riazuddin, S Amer, Morell, Robert J, Griffith, Andrew J, Charfedine, Ilhem, Çaylan, Refik, Oostrik, Jaap, Karaguzel, Ahmet, Ghorbel, Abdelmonem, Riazuddin, Sheikh, Friedman, Thomas B, Ayadi, Hammadi, Kremer, Hannie
Vydáno 2008

Spectrum of DNA variants for nonsyndromic deafness in a large cohort from multiple continents

Autor Yan, Denise, Tekin, Demet, Bademci, Guney, Foster, Joseph, Cengiz, F. Basak, Kannan-Sundhari, Abhiraami, Guo, Shengru, Mittal, Rahul, Zou, Bing, Grati, Mhamed, Kabahuma, Rosemary I., Kameswaran, Mohan, Lasisi, Taye J, Adedeji, Waheed A, Lasisi, Akeem O., Menendez, Ibis, Herrera, Marianna, Carranza, Claudia, Maroofian, Reza, Crosby, Andrew H., Bensaid, Mariem, Masmoudi, Saber, Behnam, Mahdiyeh, Mojarrad, Majid, Feng, Yong, Duman, Duygu, Mawla, Alex M., Nord, Alex S., Blanton, Susan H., Liu, Xuezhong, Tekin, Mustafa
Vydáno v Hum Genet (2016)