Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
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Published in Nature genetics (01.06.2011)
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Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
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Published in European journal of human genetics : EJHG (01.04.2009)
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Occlusive retinal vasculopathy following AstraZeneca COVID-19 vaccination: A case report
Werda, S., El Matri, K., Kammoun, A., Chebil, A., Benzina, Z., Falfoul, Y., El Matri, L.
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Published in Journal francais d'ophtalmologie (01.02.2023)
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Published in Antiquités africaines (2014)
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Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene
Said, Mariem Ben, Chouchène, Ebtissem, Salem, Salma Ben, Daoud, Kods, Largueche, Leila, Bouassida, Walid, Benzina, Zeineb, Ayadi, Hammadi, Söderkvist, Peter, Matri, Leila, Hmani-Aifa, Mounira
Published in Gene (10.10.2013)
Published in Gene (10.10.2013)
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Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome
Said, Mariem Ben, Dhouib, Houria, BenZina, Zeineb, Ghorbel, AbdelMoneem, Moreno, Felipe, Masmoudi, Saber, Ayadi, Hammadi, Hmani-Aifa, Mounira
Published in International journal of pediatric otorhinolaryngology (01.06.2012)
Published in International journal of pediatric otorhinolaryngology (01.06.2012)
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TMC1 but Not TMC2 Is Responsible for Autosomal Recessive Nonsyndromic Hearing Impairment in Tunisian Families
Tlili, Abdelaziz, Rebeh, Imen Ben, Aifa-Hmani, Mounira, Dhouib, Houria, Moalla, Jihen, Tlili-Chouchène, Jihen, Said, Mariem Ben, Lahmar, Imed, Benzina, Zeineb, Charfedine, Ilhem, Driss, Nabil, Ghorbel, Abdelmonem, Ayadi, Hammadi, Masmoudi, Saber
Published in Audiology & neurotology (01.01.2008)
Published in Audiology & neurotology (01.01.2008)
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A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family
Ben Saïd, Mariem, Ayedi, Leila, Mnejja, Melek, Hakim, Bochra, Khalfallah, Ayda, Charfeddine, Ilhem, Khifagi, Chamseddine, Turki, Khalil, Ayadi, Hammadi, BenZina, Zeineb, Ghorbel, Abdelmonem, Castillo, Ignacio del, Masmoudi, Saber, Aifa, Mounira Hmani
Published in European journal of medical genetics (01.11.2011)
Published in European journal of medical genetics (01.11.2011)
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genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1
Hmani-Aifa, Mounira, Ben Salem, Salma, Benzina, Zeineb, Bouassida, Walid, Messaoud, Riadh, Turki, Khalil, Khairallah, Moncef, Rebaï, Ahmed, Fakhfekh, Faïza, Söderkvist, Peter, Ayadi, Hammadi
Published in Human genetics (01.10.2009)
Published in Human genetics (01.10.2009)
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Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness
Ben Rebeh, Imen, Morinière, Madeleine, Ayadi, Leila, Benzina, Zeineb, Charfedine, Ilhem, Feki, Jamel, Ayadi, Hammadi, Ghorbel, Abdelmonem, Baklouti, Faouzi, Masmoudi, Saber
Published in Molecular vision (30.09.2010)
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Published in Molecular vision (30.09.2010)
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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalamia in humans and mice
Nair, K Saidas, Hmani-Aifa, Mounira, Ali, Zain, Kearney, Alison L, Salem, Salma Ben, Macalinao, Danilo G, Cosma, Ioan M, Bouassida, Walid, Hakim, Bochra, Benzina, Zeineb, Soto, Ileana, Söderkvist, Peter, Howell, Gareth R, Smith, Richard S, Ayadi, Hammadi, John, Simon W M
Published in Nature genetics (01.05.2011)
Published in Nature genetics (01.05.2011)
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Identification of candidate regions for a novel Usher syndrome type II locus
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
Published in Molecular vision (19.09.2008)
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Published in Molecular vision (19.09.2008)
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A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family
Tlili, Abdelaziz, Männikkö, Minna, Charfedine, Ilhem, Lahmar, Imed, Benzina, Zeineb, Amor, Mohamed Ben, Driss, Nabil, Ala-Kokko, Leena, Drira, Mohamed, Masmoudi, Saber, Ayadi, Hammadi
Published in Human heredity (01.01.2005)
Published in Human heredity (01.01.2005)
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