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Annuaire des publications

AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy
2016
Astra Dinculescu , Rachel M. Stupay , Wen-Tao Deng, Frank M. Dyka, Seok-Hong Min, Sanford L. Boye, Vince A. Chiodo, Carolina E. Abrahan, Ping Zhu, Qiuhong Li, Enrica Strettoi, Elena Novelli, Kerstin Nagel-Wolfrum, [ ... ], William W. Hauswirth
PLoS ONE 11(2): e0148874
Génétique
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0148874
Vue
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
2016
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač
Eur J Hum Genet. 2016 Jul 27.
Génétique
http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg201699a.html
Vue
CEP78 is mutated in a distinct type of Usher syndrome
2016
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen
J Med Genet jmedgenet-2016-104166
Génétique
http://jmg.bmj.com/content/early/2016/09/14/jmedgenet-2016-104166.abstract
Vue
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.
2016
Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch-Grau M, Aghaie A, Perfettini I, Dupont T, Avan P, El-Amraoui A, Petit C.
J Cell Biol. 2016 Jan 18;212(2):231-44.
Génétique
Vue
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
2016
Abdi S, Bahloul A, Behlouli A, Hardelin JP, Makrelouf M, Boudjelida K, Louha M, Cheknene A, Belouni R, Rous Y, Merad Z, Selmane D, Hasbelaoui M, Bonnet C, Zenati A, Petit C.
PLoS One. 2016 Sep 1;11(9):e0161893.
Génétique
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161893
Vue
Five-Year Hearing Outcomes inBilateral Simultaneously Cochlear-Implanted Adult Patients.
2016
De Seta D, Nguyen Y, Vanier A, Ferrary E, Bebear JP, Godey B, Robier A, Mondain M, Deguine O, Sterkers O, Mosnier I.
Audiol Neurootol. 2016 Sep 22;21(4):261-267.
Audition
https://www.ncbi.nlm.nih.gov/pubmed/27653609
Vue
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
2016
Ben-Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, Ghorbel A, Petit C, Masmoudi S.
Mol Vis. 2016 Jul 19;22:827-35.
Génétique
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950652/
Vue
Monitoring the evolution of boron doped porous diamond electrode on flexible retinal implant by OCT and in vivo impedance spectroscopy.
2016
Hébert C, Cottance M, Degardin J, Scorsone E, Rousseau L, Lissorgues G, Bergonzo P, Picaud S.
Mater Sci Eng C Mater Biol Appl. 2016 Dec 1;69:77-84.
Vision
http://www.sciencedirect.com/science/article/pii/S0928493116306014
Vue
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
2016
Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C.
Am J Hum Genet. 2016 Jun 2;98(6):1266-70
Génétique
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738386/
Vue
Quantitative and Topographical Analysis of the Losses of Cone Photoreceptors and Retinal Ganglion Cells Under Taurine Depletion.
2016
Hadj-Saïd W, Froger N, Ivkovic I, Jiménez-López M, Dubus É, Dégardin-Chicaud J, Simonutti M, Quénol C, Neveux N, Villegas-Pérez MP, Agudo-Barriuso M, Vidal-Sanz M, Sahel JA, Picaud S, García-Ayuso D.
Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4692-703.
Vision
https://www.ncbi.nlm.nih.gov/pubmed/27607415
Vue
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