Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Imed Lahmar"'
Autor:
Imed Lahmar, Saber Masmoudi, Ilhem Charfeddine, Hassen Hadj-Kacem, Mohamed Ali Mosrati, Malek Mnejja, Guy Van Camp, Ayda Khalfallah, Hammadi Ayadi, Nabil Driss, Leila Dhouib, Isabelle Schrauwen, Abdelmonem Ghorbel, Bochra Hakim
Publikováno v:
Annals of Human Genetics. 75:598-604
Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case-control association
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a55808e636f4737131c23d803903e94e
https://doi.org/10.1111/j.1469-1809.2011.00665.x
https://doi.org/10.1111/j.1469-1809.2011.00665.x
Autor:
Abdelmonem Ghorbel, Imed Lahmar, Ayda Khalfallah, Erik Fransen, Saber Masmoudi, Nabil Driss, Megan Ealy, Ilhem Charfedine, Guy Van Camp, Leila Dhouib, Malek Mnaja, Isabelle Schrauwen, Richard J.H. Smith, Hammadi Ayadi
Publikováno v:
Annals of Human Genetics. 74:399-405
Summary Otosclerosis is a common form of conductive hearing loss, caused by an abnormal bone remodelling in the otic capsule. Both environmental and genetic factors have been implicated in the etiology of this disease. A recent genome wide associatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b08b6cbbff2faae4479d3eb4a5ed34a7
https://doi.org/10.1111/j.1469-1809.2010.00595.x
https://doi.org/10.1111/j.1469-1809.2010.00595.x
Autor:
Imen Ben Rebeh, Imed Lahmar, Hanen Belguith, Hammadi Ayadi, Houria Dhouib, Abdelmonem Ghorbel, Ilhem Charfeddine, Nabil Driss, Saber Masmoudi, Abedelaziz Tlili
Publikováno v:
Biochemical and Biophysical Research Communications. 385:1-5
Biallelic mutations in the GJB2, GJB3, GJB6 and CLDN14 genes have been implicated in autosomal recessive non-syndromic hearing impairment (ARNSHI). Moreover, a large number of GJB2 heterozygous patients was reported. The phenotype was in partly justi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfda73f6dfd283dd2be28bb2c694d7f5
https://doi.org/10.1016/j.bbrc.2009.02.125
https://doi.org/10.1016/j.bbrc.2009.02.125
Autor:
Hanen Belguith, Ilhem Charfeddine, Hammadi Ayadi, Saber Masmoudi, Abdelmonem Ghorbel, Houria Dhouib, Jihen Moalla, Mounira Aifa-Hmani, Imed Lahmar, Mariem Ben Said, Saida Ben Arab, Nabil Driss, Mohamed Ali Mosrati
Publikováno v:
Genetic Testing and Molecular Biomarkers. 13:147-151
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse. Human MYO15A has 66 exons and encodes unconventional myosin XVA. Analysis of 77 Tunisian consanguineous families segregating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcc07f1fa04d5bcf2854383372da911
https://doi.org/10.1089/gtmb.2008.0077
https://doi.org/10.1089/gtmb.2008.0077
Autor:
Imen Ben Rebeh, Imed Lahmar, Ilhem Charfedine, Mounira Aifa-Hmani, Houria Dhouib, Abdelmonem Ghorbel, Hammadi Ayadi, Mariem Ben Said, Saber Masmoudi, Abdelaziz Tlili, Jihen Tlili-Chouchène, Jihen Moalla, Nabil Driss, Zeineb Benzina
Publikováno v:
Audiology and Neurotology. 13:213-218
Hereditary nonsyndromic hearing impairment (HI) is extremely heterogeneous. Mutations of the transmembrane channel-like gene 1 (TMC1) have been shown to cause autosomal dominant and recessive forms of nonsyndromic HI linked to the loci DFNA36 and DFN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7596940307d84d4204b14848edc6ed0
https://doi.org/10.1159/000115430
https://doi.org/10.1159/000115430
Autor:
Abdelaziz Tlili, Nabil Driss, Zeineb Benzina, Ilhem Charfedine, Imed Lahmar, Leena Ala-Kokko, Hammadi Ayadi, Mohamed Ben Amor, Mohamed Drira, Saber Masmoudi, Minna Männikkö
Publikováno v:
Human Heredity. 60:123-128
Hereditary non-syndromic deafness is extremely heterogeneous. Autosomal recessive forms account for approximately 80% of genetic cases. Autosomal recessive non-syndromic sensorineural deafness segregating in a large consanguineous Tunisian family was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37fca5b432f1d10e516be70505656f13
https://doi.org/10.1159/000088974
https://doi.org/10.1159/000088974
Publikováno v:
Archives de Pédiatrie. 18:1185-1187
Objectives To report on two cases of congenital cholesteatoma in patients aged 1 month. To review the clinical and radiological features of congenital cholesteatoma and to clarify the contribution of the CT scan in the diagnosis and the preoperative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32b5972636a03d3b9ad313596c30d0d4
https://doi.org/10.1016/j.arcped.2011.08.003
https://doi.org/10.1016/j.arcped.2011.08.003
Autor:
Ayda, Khalfallah, Isabelle, Schrauwen, Malek, Mnejja, Hassen, HadjKacem, Leila, Dhouib, Mohamed Ali, Mosrati, Bochra, Hakim, Imed, Lahmar, Ilhem, Charfeddine, Nabil, Driss, Hammadi, Ayadi, Abdelmonem, Ghorbel, Guy, Van Camp, Saber, Masmoudi
Publikováno v:
Annals of human genetics. 75(5)
Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case-control association
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9f80b8c13c3e01526a9420077e510307
https://pubmed.ncbi.nlm.nih.gov/21777208
https://pubmed.ncbi.nlm.nih.gov/21777208
Autor:
Ayda, Khalfallah, Isabelle, Schrauwen, Malek, Mnaja, Erik, Fransen, Imed, Lahmar, Megan, Ealy, Leila, Dhouib, Hammadi, Ayadi, Ilhem, Charfedine, Nabil, Driss, Abdelmonem, Ghorbel, Richard J H, Smith, Saber, Masmoudi, Guy, Van Camp
Publikováno v:
Annals of human genetics. 74(5)
Otosclerosis is a common form of conductive hearing loss, caused by an abnormal bone remodelling in the otic capsule. Both environmental and genetic factors have been implicated in the etiology of this disease. A recent genome wide association study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ae276280b29d1a044022a671a67fb6f9
https://pubmed.ncbi.nlm.nih.gov/20642811
https://pubmed.ncbi.nlm.nih.gov/20642811
Autor:
Abdelaziz, Tlili, Imen Ben, Rebeh, Mounira, Aifa-Hmani, Houria, Dhouib, Jihen, Moalla, Jihen, Tlili-Chouchène, Mariem Ben, Said, Imed, Lahmar, Zeineb, Benzina, Ilhem, Charfedine, Nabil, Driss, Abdelmonem, Ghorbel, Hammadi, Ayadi, Saber, Masmoudi
Publikováno v:
Audiologyneuro-otology. 13(4)
Hereditary nonsyndromic hearing impairment (HI) is extremely heterogeneous. Mutations of the transmembrane channel-like gene 1 (TMC1) have been shown to cause autosomal dominant and recessive forms of nonsyndromic HI linked to the loci DFNA36 and DFN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::376a60cf36c20ca12005c5e7c8280f0a
https://pubmed.ncbi.nlm.nih.gov/18259073
https://pubmed.ncbi.nlm.nih.gov/18259073