PubMed for id: 356389

Year	Number of Results
1998	1
1999	1
2000	2
2002	2
2003	2
2004	1
2008	1
2009	1
2012	1
2014	1
2015	5
2016	1
2017	1
2018	2
2019	2
2020	1
2021	1
2022	2
2024	0

1

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.

Yu S, Choi HJ, Lee JS, Lee HJ, Rim JH, Choi JY, Gee HY, Jung J. Yu S, et al. Eur J Med Genet. 2019 Jan;62(1):81-84. doi: 10.1016/j.ejmg.2018.05.018. Epub 2018 May 22. Eur J Med Genet. 2019. PMID: 29800624

2

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H. Schraders M, et al. Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. Am J Hum Genet. 2012. PMID: 23122587 Free PMC article.

3

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T. Schneider E, et al. Hum Mol Genet. 2009 Feb 15;18(4):655-66. doi: 10.1093/hmg/ddn395. Epub 2008 Nov 20. Hum Mol Genet. 2009. PMID: 19028668

4

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.

Johnson KR, Gagnon LH, Webb LS, Peters LL, Hawes NL, Chang B, Zheng QY. Johnson KR, et al. Hum Mol Genet. 2003 Dec 1;12(23):3075-86. doi: 10.1093/hmg/ddg332. Epub 2003 Sep 30. Hum Mol Genet. 2003. PMID: 14519688 Free PMC article.

5

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M. Blaydon DC, et al. Clin Genet. 2003 Apr;63(4):303-7. doi: 10.1034/j.1399-0004.2003.00058.x. Clin Genet. 2003. PMID: 12702164

6

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ. Ouyang XM, et al. Hum Genet. 2002 Jul;111(1):26-30. doi: 10.1007/s00439-002-0736-0. Epub 2002 Jun 18. Hum Genet. 2002. PMID: 12136232

7

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. Ahmed ZM, et al. Hum Genet. 2002 Jun;110(6):527-31. doi: 10.1007/s00439-002-0732-4. Epub 2002 May 3. Hum Genet. 2002. PMID: 12107438

8

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248

9

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. Verpy E, et al. Nat Genet. 2000 Sep;26(1):51-5. doi: 10.1038/79171. Nat Genet. 2000. PMID: 10973247

10

DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness.

Uhlmann J, Wiemann S, Ponstingl H. Uhlmann J, et al. FEBS Lett. 1999 Oct 22;460(1):153-60. doi: 10.1016/s0014-5793(99)01333-2. FEBS Lett. 1999. PMID: 10571079 Free article.

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