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Items: 1 to 20 of 23

1.

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C.

Nat Genet. 2000 Sep;26(1):51-5.

PMID:
10973247
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.

[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.

4.

Genetic heterogeneity in Usher syndrome.

Keats BJ, Savas S.

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

PMID:
15368488
5.
6.

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
7.

Usher syndrome: from genetics to pathogenesis.

Petit C.

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

PMID:
11701652
8.

The usher syndromes.

Keats BJ, Corey DP.

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

PMID:
10704190
9.

Unconventional myosins and the genetics of hearing loss.

Friedman TB, Sellers JR, Avraham KB.

Am J Med Genet. 1999 Sep 24;89(3):147-57. Review.

PMID:
10704189
10.

An introduction to the genetics of normal and defective hearing.

Martini A, Mazzoli M, Kimberling W.

Ann N Y Acad Sci. 1997 Dec 29;830:361-74. Review.

PMID:
9616696
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.

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness.

Friedman LM, Avraham KB.

Mamm Genome. 2009 Sep-Oct;20(9-10):581-603. doi: 10.1007/s00335-009-9230-5. Epub 2009 Oct 30. Review.

PMID:
19876605
13.

Molecular genetics of Usher syndrome.

Eudy JD, Sumegi J.

Cell Mol Life Sci. 1999 Oct 15;56(3-4):258-67. Review.

PMID:
11212353
14.

Unravelling the genetics of deafness.

Steel KP, Mburu P, Gibson F, Walsh J, Varela A, Brown K, Self T, Mahony M, Fleming J, Pearce A, Harvey D, Cable J, Brown SD.

Ann Otol Rhinol Laryngol Suppl. 1997 May;168:59-62. Review.

PMID:
9153119
15.

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
16.

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
17.

Molecular characterization of the retinal degeneration slow (rds) mutation in mouse.

Travis GH.

Prog Clin Biol Res. 1991;362:87-114. Review. No abstract available.

PMID:
1848366
18.

Otoferlin: a multi-C2 domain protein essential for hearing.

Pangršič T, Reisinger E, Moser T.

Trends Neurosci. 2012 Nov;35(11):671-80. doi: 10.1016/j.tins.2012.08.002. Epub 2012 Sep 7. Review.

PMID:
22959777
19.

Therapy strategies for Usher syndrome Type 1C in the retina.

Nagel-Wolfrum K, Baasov T, Wolfrum U.

Adv Exp Med Biol. 2014;801:741-7. doi: 10.1007/978-1-4614-3209-8_93. Review.

PMID:
24664766
20.

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

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