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Items: 1 to 20 of 28

1.

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

Reiners J, van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U.

Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21.

PMID:
16301216
2.

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID:
16545802
3.
4.

The usher syndromes.

Keats BJ, Corey DP.

Am J Med Genet. 1999 Sep 24;89(3):158-66. Review.

PMID:
10704190
5.

Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.

Sorusch N, Wunderlich K, Bauss K, Nagel-Wolfrum K, Wolfrum U.

Adv Exp Med Biol. 2014;801:527-33. doi: 10.1007/978-1-4614-3209-8_67. Review.

PMID:
24664740
6.

Usher syndrome: from genetics to pathogenesis.

Petit C.

Annu Rev Genomics Hum Genet. 2001;2:271-97. Review.

PMID:
11701652
7.

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Kremer H, van Wijk E, Märker T, Wolfrum U, Roepman R.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R262-70. Review.

PMID:
16987892
8.

Usher protein functions in hair cells and photoreceptors.

Cosgrove D, Zallocchi M.

Int J Biochem Cell Biol. 2014 Jan;46:80-9. doi: 10.1016/j.biocel.2013.11.001. Epub 2013 Nov 12. Review.

9.

The molecular genetics of Usher syndrome.

Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER.

Clin Genet. 2003 Jun;63(6):431-44. Review.

PMID:
12786748
10.

[Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles].

El-Amraoui A, Lefèvre G, Hardelin JP, Petit C.

Med Sci (Paris). 2005 Aug-Sep;21(8-9):737-40. Review. French.

11.

[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

Espinós C, Pérez-Garrigues H, Beneyto M, Vilela C, Rodrigo O, Nájera C.

An Otorrinolaringol Ibero Am. 1999;26(1):83-95. Review. Spanish.

PMID:
10091368
12.

Bardet-Biedl syndrome and Usher syndrome.

Koenig R.

Dev Ophthalmol. 2003;37:126-40. Review.

PMID:
12876834
13.

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

Bonnet C, El-Amraoui A.

Curr Opin Neurol. 2012 Feb;25(1):42-9. doi: 10.1097/WCO.0b013e32834ef8b2. Review.

PMID:
22185901
14.

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.

El-Amraoui A, Petit C.

C R Biol. 2014 Mar;337(3):167-77. doi: 10.1016/j.crvi.2013.12.004. Epub 2014 Mar 20. Review.

PMID:
24702843
15.

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.

16.

Genetic heterogeneity in Usher syndrome.

Keats BJ, Savas S.

Am J Med Genet A. 2004 Sep 15;130A(1):13-6. Review.

PMID:
15368488
17.

Genetics and pathological mechanisms of Usher syndrome.

Yan D, Liu XZ.

J Hum Genet. 2010 Jun;55(6):327-35. doi: 10.1038/jhg.2010.29. Epub 2010 Apr 9. Review.

18.

[Molecular updates on Usher syndrome].

Roux AF.

J Fr Ophtalmol. 2005 Jan;28(1):93-7. Review. French.

19.

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
20.

Usher syndrome: hearing loss with vision loss.

Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC.

Adv Otorhinolaryngol. 2011;70:56-65. doi: 10.1159/000322473. Epub 2011 Feb 24. Review.

PMID:
21358186

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