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    Results: 20

    1.

    Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D.

    Lagziel A, Overlack N, Bernstein SL, Morell RJ, Wolfrum U, Friedman TB.

    Mol Vis. 2009 Sep 12;15:1843-57.PMID: 19756182 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

    Isosomppi J, Västinsalo H, Geller SF, Heon E, Flannery JG, Sankila EM.

    Mol Vis. 2009 Sep 8;15:1806-18.PMID: 19753315 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.

    Tian G, Zhou Y, Hajkova D, Miyagi M, Dinculescu A, Hauswirth WW, Palczewski K, Geng R, Alagramam KN, Isosomppi J, Sankila EM, Flannery JG, Imanishi Y.

    J Biol Chem. 2009 Jul 10;284(28):18980-93. Epub 2009 May 7.PMID: 19423712 [PubMed - indexed for MEDLINE]Related articles

    4.

    Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.

    Geng R, Geller SF, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Jones SM, Wright CG, Melki S, Imanishi Y, Palczewski K, Alagramam KN, Flannery JG.

    Hum Mol Genet. 2009 Aug 1;18(15):2748-60. Epub 2009 May 3.PMID: 19414487 [PubMed - indexed for MEDLINE]Related articles

    5.

    Acute reversible Charles Bonnet syndrome precipitated by sudden severe anemia.

    Kaeser PF, Borruat FX.

    Eur J Ophthalmol. 2009 May-Jun;19(3):494-5.PMID: 19396804 [PubMed - indexed for MEDLINE]Related articles

    6.

    Deafness genes in Israel: implications for diagnostics in the clinic.

    Brownstein Z, Avraham KB.

    Pediatr Res. 2009 Aug;66(2):128-34. Review.PMID: 19390476 [PubMed - indexed for MEDLINE]Related articles

    7.

    Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

    Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF.

    Eur J Med Genet. 2009 Jul-Aug;52(4):174-9. Epub 2009 Apr 16.PMID: 19375528 [PubMed - indexed for MEDLINE]Related articles

    8.

    GPR98 mutations cause Usher syndrome type 2 in males.

    Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ.

    J Med Genet. 2009 Apr;46(4):277-80.PMID: 19357117 [PubMed - indexed for MEDLINE]Related articles

    9.

    A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

    Hilgert N, Kahrizi K, Dieltjens N, Bazazzadegan N, Najmabadi H, Smith RJ, Van Camp G.

    J Med Genet. 2009 Apr;46(4):272-6.PMID: 19357116 [PubMed - indexed for MEDLINE]Related articles

    10.

    Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

    Gibbs D, Cideciyan AV, Jacobson SG, Williams DS.

    Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4386-93. Epub 2009 Mar 25.PMID: 19324852 [PubMed - indexed for MEDLINE]Related articles

    11.

    Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

    Williams DS, Aleman TS, Lillo C, Lopes VS, Hughes LC, Stone EM, Jacobson SG.

    Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3881-9. Epub 2009 Mar 25.PMID: 19324851 [PubMed - indexed for MEDLINE]Related articles

    12.

    Novel human pathological mutations. Gene symbol: GPR98. Disease: Usher syndrome 2C.

    Hilgert N.

    Hum Genet. 2009 Apr;125(3):342. No abstract available. PMID: 19320012 [PubMed - indexed for MEDLINE]Related articles

    13.

    Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.

    Pan L, Yan J, Wu L, Zhang M.

    Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5575-80. Epub 2009 Mar 18.PMID: 19297620 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective.

    Möller K, Eriksson K, Sadeghi AM, Möller C, Danermark B.

    Disabil Rehabil. 2009;31(15):1283-92.PMID: 19280439 [PubMed - indexed for MEDLINE]Related articles

    15.

    Usher syndrome and psychiatric symptoms: a challenge in psychiatric management.

    Rijavec N, Grubic VN.

    Psychiatr Danub. 2009 Mar;21(1):68-71.PMID: 19270624 [PubMed - indexed for MEDLINE]Related articles

    16.

    Histopathological and neuroradiological features of Usher syndrome type II.

    Ciorba A, Schrott-Fisher A, Berto A, Glueckert R, Janecke A, Martini A.

    B-ENT. 2008;4(4):201-6. Review.PMID: 19227024 [PubMed - indexed for MEDLINE]Related articles

    17.

    Usher's syndrome--case report.

    Kwiecień S, Sulak R, Szaflik J.

    Klin Oczna. 2008;110(10-12):384-6.PMID: 19195172 [PubMed - indexed for MEDLINE]Related articles

    18.

    Update on Usher syndrome.

    Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M.

    Curr Opin Neurol. 2009 Feb;22(1):19-27. Review.PMID: 19165952 [PubMed - indexed for MEDLINE]Related articles

    19.

    Audiometric characteristics of USH2a patients.

    Leijendeckers JM, Pennings RJ, Snik AF, Bosman AJ, Cremers CW.

    Audiol Neurootol. 2009;14(4):223-31. Epub 2009 Jan 8.PMID: 19129697 [PubMed - indexed for MEDLINE]Related articles

    20.

    Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

    Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ.

    Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1886-94. Epub 2008 Dec 13.PMID: 19074810 [PubMed - indexed for MEDLINE]Related articles

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