Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Mounira Hmani"'
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::221b3d9ee11430fac35c8a452eeeeebf
https://doi.org/10.1136/bjophthalmol-2020-318204
https://doi.org/10.1136/bjophthalmol-2020-318204
Autor:
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
Publikováno v:
In European Journal of Medical Genetics 2011 54(6):e535-e541
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6379eed92538ccb0ed1f3e9934e3a3ec
https://pubmed.ncbi.nlm.nih.gov/33879471
https://pubmed.ncbi.nlm.nih.gov/33879471
Akademický článek
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Publikováno v:
British Journal of Ophthalmology; Feb2022, Vol. 106 Issue 2, p281-287, 7p
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c2b7293329cd429e396436f74ce664
https://pubmed.ncbi.nlm.nih.gov/31254423
https://pubmed.ncbi.nlm.nih.gov/31254423
Publikováno v:
British Journal of Ophthalmology; 2022, Vol. 106 Issue: 2 p281-287, 7p
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a07b3a07ccd12c20564f827285e45a3
https://doi.org/10.1016/j.gene.2013.06.045
https://doi.org/10.1016/j.gene.2013.06.045
Autor:
Imen Chakchouk, Zhongmin Lu, Bing Zou, Takahiro Ishimoto, Qi Ma, Yukio Kato, M'hamed Grati, Noritaka Nakamichi, Bouthaina Hammami, Mustafa Tekin, Qi Yao, Lingling Neng, Denise Yan, Mariem Ben Said, Xiaorui Shi, Saber Masmoudi, Rahul Mittal, Mounira Hmani, Abdelmonem Ghorbel, Xuezhong Liu
The high prevalence/incidence of hearing loss (HL) in humans makes it the most common sensory defect. The majority of the cases are of genetic origin. Non-syndromic hereditary HL is extremely heterogeneous. Genetic approaches have been instrumental i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61bd7f64c9243473fb663fe167923e16
https://europepmc.org/articles/PMC4836961/
https://europepmc.org/articles/PMC4836961/
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a10bb575472c5a9dfcaa37ec10e5e67d
https://doi.org/10.1016/j.ijporl.2012.02.053
https://doi.org/10.1016/j.ijporl.2012.02.053