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Items: 1 to 20 of 82


Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB.

Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. eCollection 2016 Sep.


The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.

Yao L, Zhang L, Qi LS, Liu W, An J, Wang B, Xue JH, Zhang ZM.

PLoS One. 2016 May 17;11(5):e0155619. doi: 10.1371/journal.pone.0155619. eCollection 2016.


A Glial K/Cl Transporter Controls Neuronal Receptive Ending Shape by Chloride Inhibition of an rGC.

Singhvi A, Liu B, Friedman CJ, Fong J, Lu Y, Huang XY, Shaham S.

Cell. 2016 May 5;165(4):936-48. doi: 10.1016/j.cell.2016.03.026. Epub 2016 Apr 7.


AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.

Dinculescu A, Stupay RM, Deng WT, Dyka FM, Min SH, Boye SL, Chiodo VA, Abrahan CE, Zhu P, Li Q, Strettoi E, Novelli E, Nagel-Wolfrum K, Wolfrum U, Smith WC, Hauswirth WW.

PLoS One. 2016 Feb 16;11(2):e0148874. doi: 10.1371/journal.pone.0148874. eCollection 2016.


Novel grading system for quantification of cystic macular lesions in Usher syndrome.

Sliesoraityte I, Peto T, Mohand-Said S, Sahel JA.

Orphanet J Rare Dis. 2015 Dec 10;10:157. doi: 10.1186/s13023-015-0372-0.


Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.

Bales KL, Gross AK.

Exp Eye Res. 2016 Sep;150:71-80. doi: 10.1016/j.exer.2015.11.007. Epub 2015 Nov 26. Review.


The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.

PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct.


NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.

Dona M, Bachmann-Gagescu R, Texier Y, Toedt G, Hetterschijt L, Tonnaer EL, Peters TA, van Beersum SE, Bergboer JG, Horn N, de Vrieze E, Slijkerman RW, van Reeuwijk J, Flik G, Keunen JE, Ueffing M, Gibson TJ, Roepman R, Boldt K, Kremer H, van Wijk E.

PLoS Genet. 2015 Oct 20;11(10):e1005574. doi: 10.1371/journal.pgen.1005574. eCollection 2015 Oct.


Genetics of Hearing Loss: Syndromic.

Koffler T, Ushakov K, Avraham KB.

Otolaryngol Clin North Am. 2015 Dec;48(6):1041-61. doi: 10.1016/j.otc.2015.07.007. Epub 2015 Oct 9. Review.


Specialized Cilia in Mammalian Sensory Systems.

Falk N, Lösl M, Schröder N, Gießl A.

Cells. 2015 Sep 11;4(3):500-19. doi: 10.3390/cells4030500. Review.


RPGR: Its role in photoreceptor physiology, human disease, and future therapies.

Megaw RD, Soares DC, Wright AF.

Exp Eye Res. 2015 Sep;138:32-41. doi: 10.1016/j.exer.2015.06.007. Epub 2015 Jun 17. Review.


Genetic modifiers and oligogenic inheritance.

Kousi M, Katsanis N.

Cold Spring Harb Perspect Med. 2015 Jun 1;5(6). pii: a017145. doi: 10.1101/cshperspect.a017145. Review.


Discovery of molecular markers to discriminate corneal endothelial cells in the human body.

Yoshihara M, Ohmiya H, Hara S, Kawasaki S; FANTOM consortium, Hayashizaki Y, Itoh M, Kawaji H, Tsujikawa M, Nishida K.

PLoS One. 2015 Mar 25;10(3):e0117581. doi: 10.1371/journal.pone.0117581. eCollection 2015. Erratum in: PLoS One. 2015;10(5):e0129412.


The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors.

de Nooij JC, Simon CM, Simon A, Doobar S, Steel KP, Banks RW, Mentis GZ, Bewick GS, Jessell TM.

J Neurosci. 2015 Feb 18;35(7):3073-84. doi: 10.1523/JNEUROSCI.3699-14.2015.


MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

Sodi A, Mariottini A, Passerini I, Murro V, Tachyla I, Bianchi B, Menchini U, Torricelli F.

Mol Vis. 2014 Dec 23;20:1717-31. eCollection 2014.


Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.

Mathur P, Yang J.

Biochim Biophys Acta. 2015 Mar;1852(3):406-20. doi: 10.1016/j.bbadis.2014.11.020. Epub 2014 Dec 4. Review.


Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM.

Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7.


Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

García-García G, Aller E, Jaijo T, Aparisi MJ, Larrieu L, Faugère V, Blanco-Kelly F, Ayuso C, Roux AF, Millán JM.

Mol Vis. 2014 Sep 25;20:1398-410. eCollection 2014.


Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.

Blanco-Sánchez B, Clément A, Fierro J Jr, Washbourne P, Westerfield M.

Dis Model Mech. 2014 May;7(5):547-59. doi: 10.1242/dmm.014068. Epub 2014 Mar 13.


Nongranulomatous anterior uveitis in a patient with Usher syndrome.

Alzuhairy SA, Alfawaz A.

Saudi J Ophthalmol. 2013 Oct;27(4):295-8. doi: 10.1016/j.sjopt.2013.06.001. Epub 2013 Jun 19.

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