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

بواسطة Rebai, Ahmed, Souissi, Amal, Abid, Nabil, Masmoudi, Saber
الحاوية / القاعدة EuroMediterr J Environ Integr (2021)

Transcriptomic Analysis of the Developing and Adult Mouse Cochlear Sensory Epithelia

بواسطة Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
منشور في 2012

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

بواسطة Smeti, Ibtihel, Assou, Said, Savary, Etienne, Masmoudi, Saber, Zine, Azel
الحاوية / القاعدة PLoS One (2020)

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

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

CDH23 Methylation Status and Presbycusis Risk in Elderly Women

بواسطة Bouzid, Amal, Smeti, Ibtihel, Chakroun, Amine, Loukil, Salma, Gibriel, Abdullah Ahmed, Grati, Mhamed, Ghorbel, Abdelmonem, Masmoudi, Saber
الحاوية / القاعدة Front Aging Neurosci (2018)

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

بواسطة Ben-Rebeh, Imen, Grati, Mhamed, Bonnet, Crystel, Bouassida, Walid, Hadjamor, Imen, Ayadi, Hammadi, Ghorbel, Abdelmonem, Petit, Christine, Masmoudi, Saber
الحاوية / القاعدة Mol Vis (2016)

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

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

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

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

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

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

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

بواسطة 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
الحاوية / القاعدة 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

بواسطة 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
منشور في 2010

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

بواسطة 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
الحاوية / القاعدة Hum Mol Genet (2015)

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

بواسطة 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
الحاوية / القاعدة J Adv Res (2021)

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

بواسطة 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
منشور في 2008

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

بواسطة 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
الحاوية / القاعدة Mol Genet Genomics (2015)

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

بواسطة 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
الحاوية / القاعدة 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

بواسطة 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
الحاوية / القاعدة Hum Genet (2016)

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

بواسطة 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
الحاوية / القاعدة Am J Hum Genet (2017)

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

بواسطة 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
منشور في 2008

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

بواسطة 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
الحاوية / القاعدة Hum Genet (2016)