Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Elie El-Zir"'
Autor:
Ramesh Reddy, Somayyeh Fahiminiya, Elie El Zir, Ahmad Mansour, Andre Megarbane, Jacek Majewski, Rima Slim
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e107326 (2014)
Usher syndrome (USH) is a genetically heterogeneous condition with ten disease-causing genes. The spectrum of genes and mutations causing USH in the Lebanese and Middle Eastern populations has not been described. Consequently, diagnostic approaches d
Externí odkaz:
https://doaj.org/article/a821ed98999b4bfa9c0a339f3af92d43
Publikováno v:
Cochlear Implants International. 15:53-60
To investigate electrically evoked compound action potentials (eCAPs) measured with the neural response imaging (NRI) 'SmartNRI' algorithm. NRI thresholds and slopes were examined according to three aspects: (1) site along the cochlea, (2) developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5678d3ddc3ad05ec2a5476ea5b092db3
https://doi.org/10.1179/1754762813y.0000000039
https://doi.org/10.1179/1754762813y.0000000039
Publikováno v:
The Laryngoscope. 124:E141-E147
Objectives/Hypothesis To assess the hearing status of trisomy 21 patients by analyzing electrophysiological and radiological findings of any correlation between hearing impairment and major or minor inner ear malformations. Study Design Prospective r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57a6d5c58b08fd7755a136f5da328c99
https://doi.org/10.1002/lary.24375
https://doi.org/10.1002/lary.24375
Publikováno v:
International Journal of High Risk Behaviors and Addiction. 5
Background: Many studies have established an association between cigarette smoking and Hearing Loss (HL) mostly in subjects working in noisy places. However, few studies are devoted to the relationship between environmental noise and smoking through
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ced5c67d020acf1bcbacc11f068ccddd
https://doi.org/10.5812/ijhrba.31522
https://doi.org/10.5812/ijhrba.31522
Publikováno v:
Ophthalmic Genetics. 32:245-249
To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome.Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing.This a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2161026843e3e36fa661a7bdcf65f2e1
https://doi.org/10.3109/13816810.2011.587083
https://doi.org/10.3109/13816810.2011.587083
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers
Publikováno v:
Clinical Genetics. 54:155-158
Usher syndrome (US) is clinically and genetically a heterogeneous group of disorders characterized by the association of deafness with retinitis pigmentosa. So far, eight genes responsible for US have been mapped, of which only the gene responsible f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15d71ff72f1eac6037591195330d860e
https://doi.org/10.1111/j.1399-0004.1998.tb03720.x
https://doi.org/10.1111/j.1399-0004.1998.tb03720.x
Publikováno v:
Current pediatric reviews. 11(2)
OBJECTIVE To assess the effect of chronic middle ear effusion (CMEE) on balance and equilibrium. MATERIAL AND METHODS Prospective study controlling two groups of children. The active arm consisted of children having a unilateral or bilateral CMEE tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5680f11824687075ac4275e6cf9848c0
https://pubmed.ncbi.nlm.nih.gov/26133179
https://pubmed.ncbi.nlm.nih.gov/26133179
Publikováno v:
NER
Electrically-evoked compound action potentials (ECAPs) is an objective measure of peripheral neural encoding of electrical stimulation delivered by cochlear implants (CIs) at the auditory nerve level. ECAPs play a key role in automated CI fitting and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3629031080a4b03efa5d401a0892d05e
https://doi.org/10.1109/ner.2015.7146716
https://doi.org/10.1109/ner.2015.7146716
Autor:
Aziz El-Amraoui, Mirna Mustapha, M'hamed Grati, Martine Cohen-Salmon, Jacques Loiselet, Elie El-Zir, Nabiha Salem, Shin'ichiro Yasunaga, Christine Petit
Publikováno v:
Nature Genetics
Nature Genetics, 1999, 21 (4), pp.363-369. ⟨10.1038/7693⟩
Nature Genetics, 1999, 21 (4), pp.363-369. ⟨10.1038/7693⟩
International audience; Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The same nonsense mutation was detected in four unrelated affected families o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aa2cd67a2e22283ef746e11e82208ac
https://doi.org/10.1038/7693
https://doi.org/10.1038/7693
Autor:
Mohammed Grati, Pierre Bitoun, Saida Benarab, Stephen A. Wilcox, Christine Petit, Alain Joannard, Amel Boulila-Elgaied, Elie El-Zir, J Godet, Mirna Mustapha, Hans Henrik M. Dahl, Jacqueline Levilliers, Denise R. Allen-Powell, Nicholas Lench, Jacques Loiselet, Anna Middleton, Mark J. Houseman, Hammadi Ayadi, Marion A. Maw, Robert F. Mueller, Catherine Dodé, Amelia H. Osborn, Françoise Denoyelle, Dominique Weil, R. J McKinlay Gardner, Anne Aubois, Geneviève Lina-Granade, Erea Noel Garabedian, Sandrine Marlin
Publikováno v:
Human Molecular Genetics. 6:2173-2177
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci have been identified for the recessive forms (DFNB loci). For two of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b520ebc61e08e77e5a44e9222355385
https://doi.org/10.1093/hmg/6.12.2173
https://doi.org/10.1093/hmg/6.12.2173