Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families
Chibani, Zohra, Abid, Imen Zone, Molbaek, Annette, Söderkvist, Peter, Feki, Jamel, Hmani‐Aifa, Mounira
Published in Clinical & experimental ophthalmology (01.11.2019)
Published in Clinical & experimental ophthalmology (01.11.2019)
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A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60
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
Published in Human genetics (01.05.2016)
Published in Human genetics (01.05.2016)
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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia 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 (01.06.2011)
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
HMANI-AIFA, Mounira, BENZINA, Zeineb, AYADI, Hammadi, ZULFIQAR, Fareeha, DHOUIB, Houria, SHAHZADI, Amber, GHORBEL, Abdelmonem, REBAI, Ahmed, SÖDERKVIST, Peter, RIAZUDDIN, Sheikh, KIMBERLING, William J
Published in European journal of human genetics : EJHG (01.04.2009)
Published in European journal of human genetics : EJHG (01.04.2009)
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Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21
Ali Mosrati, Mohamed, Schrauwen, Isabelle, Ben Saiid, Mariem, Aifa-Hmani, Mounira, Fransen, Erik, Mneja, Malek, Ghorbel, Abdelmonem, Van Camp, Guy, Masmoudi, Saber
Published in Journal of human genetics (01.02.2013)
Published in Journal of human genetics (01.02.2013)
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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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Molecular identification of Helicobacter DNA present in human colorectal adenocarcinomas by 16S rDNA PCR amplification and pyrosequencing analysis
Grahn, Niclas, Hmani-Aifa, Mounira, Fransen, Karin, Soderkvist, Peter, Monstein, Hans-Jurg
Published in Journal of medical microbiology (01.11.2005)
Published in Journal of medical microbiology (01.11.2005)
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Journal Article
Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21
Ali Mosrati, Mohamed, Schrauwen, Isabelle, Ben Saiid, Mariem, Aifa-Hmani, Mounira, Fransen, Erik, Mneja, Malek, Ghorbel, Abdelmonem, Van Camp, Guy, Masmoudi, Saber
Published in Journal of human genetics (01.02.2013)
Published in Journal of human genetics (01.02.2013)
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Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families
Chibani, Zohra, Abid, Imen Zone, Söderkvist, Peter, Feki, Jamel, Aifa, Mounira Hmani
Published in British journal of ophthalmology (01.02.2022)
Published in British journal of ophthalmology (01.02.2022)
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Journal Article
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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Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus
Belguith, Hanen, Aifa-Hmani, Mounira, Dhouib, Houria, Said, Mariem Ben, Mosrati, Mohamed Ali, Lahmar, Imed, Moalla, Jihen, Charfeddine, Ilhem, Driss, Nabil, Arab, Saida Ben, Ghorbel, Abdelmonem, Ayadi, Hammadi, Masmoudi, Saber
Published in Genetic testing and molecular biomarkers (01.02.2009)
Published in Genetic testing and molecular biomarkers (01.02.2009)
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A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
Hmani, M, Ghorbel, A, Boulila-Elgaied, A, Ben Zina, Z, Kammoun, W, Drira, M, Chaabouni, M, Petit, C, Ayadi, H
Published in European journal of human genetics : EJHG (01.04.1999)
Published in European journal of human genetics : EJHG (01.04.1999)
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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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A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children
Fagerås Böttcher, Malin, Hmani-Aifa, Mounira, Lindström, Anna, Jenmalm, Maria Christina, Mai, Xiao-Mei, Nilsson, Lennart, Zdolsek, Helena Aniansson, Björkstén, Bengt, Söderkvist, Peter, Vaarala, Outi
Published in Journal of allergy and clinical immunology (01.09.2004)
Published in Journal of allergy and clinical immunology (01.09.2004)
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Mutations of LRTOMT , a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Riazuddin, S Amer, Ayadi, Leila, Tlili, Abdelaziz, Masmoudi, Saber, Ahmed, Zubair M, Oostrik, Jaap, Ghorbel, Abdelmonem, Riazuddin, Sheikh, Charfedine, Ilhem, Griffith, Andrew J, Hmani-Aifa, Mounira, Kawar, Mayya N, Kalay, Ersan, Belyantseva, Inna A, Karaguzel, Ahmet, Venselaar, Hanka, Morell, Robert J, Mosrati, Mohamed Ali, Riazuddin, Saima, Khan, Shahid Y, Çaylan, Refik, Friedman, Thomas B, Kremer, Hannie, Ayadi, Hammadi, van der Zwaag, Bert, Collin, Rob W J
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
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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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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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DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss
Bensaïd, Mariem, Hmani-Aifa, Mounira, Hammami, Boutheina, Tlili, Abdelaziz, Hakim, Bochra, Charfeddine, Ilhem, Ayadi, Hammadi, Ghorbel, Abdelmonem, Castillo, Ignacio del, Masmoudi, Saber
Published in European journal of medical genetics (01.11.2011)
Published in European journal of medical genetics (01.11.2011)
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Journal Article
Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates
Ben Arab, Saïda, Hmani, Mounira, Denoyelle, Françoise, Boulila-Elgaied, Amel, Chardenoux, Sebastien, Hachicha, Slah, Petit, Christine, Ayadi, Hammadi
Published in Clinical genetics (01.06.2000)
Published in Clinical genetics (01.06.2000)
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