Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Mounira Hmani Aifa"'
Publikováno v:
British Journal of Ophthalmology. 106:281-287
BackgroundAutosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation.
Publikováno v:
The British journal of ophthalmology. 106(2)
Autosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is k
Autor:
Mounira Hmani-Aifa, Zohra Chibani, Peter Söderkvist, Jamel Feki, Annette Molbaek, Imen Zone Abid
Publikováno v:
Clinicalexperimental ophthalmologyREFERENCES. 47(8)
Background Epidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of th
Autor:
Peter Söderkvist, Salma Ben Salem, Ebtissem Chouchène, Hammadi Ayadi, Walid Bouassida, Zeineb Benzina, Mariem Ben Said, Kods Daoud, Leila El Matri, Mounira Hmani-Aifa, L. Largueche
Publikováno v:
Gene. 528:288-294
Congenital microphthalmia (CMIC) is a common developmental ocular disorder characterized by a small, and sometimes malformed, eye. Posterior microphthalmia (PM) and nanophthalmia are two rare subtypes of isolated CMIC characterized by extreme hyperop
Autor:
Saber Masmoudi, Mounira Hmani-Aifa, Mariem Ben Said, Houria Dhouib, Hammadi Ayadi, Felipe Moreno, Abdelmoneem Ghorbel, Zeineb Benzina
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 76:832-836
Objective Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural hearing loss with goiter (Pendred syndrome) or non-syndromic autosomal recessive hearing loss (DFNB4). Furthermore, mutations in the GJB2 gene results
Autor:
Melek Mnejja, Mariem Ben Said, Ayda Khalfallah, Zeineb Benzina, Ignacio del Castillo, Khalil Turki, Leila Ayedi, Bochra Hakim, Mounira Hmani Aifa, Abdelmonem Ghorbel, Hammadi Ayadi, Ilhem Charfeddine, Saber Masmoudi, Chamseddine Khifagi
Publikováno v:
European Journal of Medical Genetics. 54:e535-e541
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogenous disorder with 41 genes so far identified. Among these genes, ESRRB whose mutations are responsible for DFNB35 hearing loss in Pakistani and Turkish families. This g
Autor:
Saber Masmoudi, Mounira Hmani-Aifa, Mariem Bensaid, Hammadi Ayadi, B. Hammami, Abdelmonem Ghorbel, Abdelaziz Tlili, Bochra Hakim, Ignacio del Castillo, Ilhem Charfeddine
Publikováno v:
European Journal of Medical Genetics. 54:e565-e569
We previously mapped the DFNB66 locus to an interval overlapping the DFNB67 region. Mutations in the LHFPL5 gene were identified as a cause of DFNB67 hearing loss (HL). However, screening of the coding exons of LHFPL5 did not reveal any mutation in t
Autor:
Ileana Soto, Danilo G. Macalinao, K. Saidas Nair, I. M. Cosma, Hammadi Ayadi, Peter Söderkvist, Bochra Hakim, Salma Ben Salem, Mounira Hmani-Aifa, Zain Ali, Walid Bouassida, Gareth R. Howell, Alison L. Kearney, Simon W. M. John, Richard S. Smith, Zeineb Benzina
Publikováno v:
Nature Genetics. 43:579-584
Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in
Autor:
Mirna Mustapha, Mounira Hmani-Aifa, Richard J.H. Smith, Guy Van Camp, Mustafa Tekin, Imen Amar, Saber Masmoudi, Sedigheh Delmaghani, Hammadi Ayadi, Mariem Ben Said, Abdelaziz Tlili, Abdelmonem Ghorbel, Shahid Mahmood Baig
Publikováno v:
Genetic testing and molecular biomarkers
Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34
Publikováno v:
Journal of Medical Microbiology. 54:1031-1035
Seroepidemiological studies have indicated thatHelicobacter pyloriinfection might be a possible risk factor for colorectal adenocarcinoma (CRC) development. However, limited information is available as to whether or notHelicobacterspecies are present