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Items: 1 to 20 of 217

1.

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Gao X, Su Y, Guan LP, Yuan YY, Huang SS, Lu Y, Wang GJ, Han MY, Yu F, Song YS, Zhu QY, Wu J, Dai P.

PLoS One. 2013 May 14;8(5):e63026. doi: 10.1371/journal.pone.0063026.

2.

Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.

Lin F, Li D, Wang P, Fan D, De J, Zhu W.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2216-21. doi: 10.1016/j.ijporl.2014.10.016.

PMID:
25458163
3.

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.

Gao X, Su Y, Chen YL, Han MY, Yuan YY, Xu JC, Xin F, Zhang MG, Huang SS, Wang GJ, Kang DY, Guan LP, Zhang JG, Dai P.

PLoS One. 2015 Apr 28;10(4):e0124757. doi: 10.1371/journal.pone.0124757.

4.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.

Gao X, Zhu QY, Song YS, Wang GJ, Yuan YY, Xin F, Huang SS, Kang DY, Han MY, Guan LP, Zhang JG, Dai P.

J Transl Med. 2013 Nov 9;11:284. doi: 10.1186/1479-5876-11-284.

5.

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

Zhao Y, Wang D, Zong L, Zhao F, Guan L, Zhang P, Shi W, Lan L, Wang H, Li Q, Han B, Yang L, Jin X, Wang J, Wang J, Wang Q.

PLoS One. 2014 May 14;9(5):e97064. doi: 10.1371/journal.pone.0097064.

6.

Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.

Ma Y, Xiao Y, Zhang F, Han Y, Li J, Xu L, Bai X, Wang H.

Int J Pediatr Otorhinolaryngol. 2016 Apr;83:179-85. doi: 10.1016/j.ijporl.2016.01.001.

PMID:
26968074
7.

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.

Hu J, Liu F, Xia W, Hao L, Lan J, Zhu Z, Ye J, Ma D, Ma Z.

J Transl Med. 2016 Jan 28;14:29. doi: 10.1186/s12967-016-0780-5.

8.

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

Gao X, Huang SS, Yuan YY, Wang GJ, Xu JC, Ji YB, Han MY, Yu F, Kang DY, Lin X, Dai P.

Am J Med Genet A. 2015 Oct;167A(10):2357-65. doi: 10.1002/ajmg.a.37206.

9.

Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.

Bai X, Lv H, Zhang F, Liu J, Fan Z, Xu L, Han Y, Chai R, Li J, Wang H.

Am J Med Genet A. 2014 Dec;164A(12):3052-60. doi: 10.1002/ajmg.a.36760.

PMID:
25250959
10.

Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.

Chen J, Wei Q, Yao J, Qian X, Dai Y, Yang Y, Cao X, Gao X.

Int J Audiol. 2013 Feb;52(2):134-8. doi: 10.3109/14992027.2012.723142.

PMID:
23151031
11.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Vis. 2013 Nov 7;19:2187-95.

12.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

13.

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK.

BMC Med Genet. 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46.

14.

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q.

PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549.

15.

Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.

Manji SS, Miller KA, Williams LH, Dahl HH.

Am J Pathol. 2012 Apr;180(4):1560-9. doi: 10.1016/j.ajpath.2011.12.034.

PMID:
22330676
16.

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

Liu F, Li P, Liu Y, Li W, Wong F, Du R, Wang L, Li C, Jiang F, Tang Z, Liu M.

Mol Vis. 2013;19:695-701.

17.
18.

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

de Heer AM, Collin RW, Huygen PL, Schraders M, Oostrik J, Rouwette M, Kunst HP, Kremer H, Cremers CW.

Audiol Neurootol. 2011;16(2):93-105. doi: 10.1159/000313282.

PMID:
21252500
19.

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

Liu P, Li H, Ren X, Mao H, Zhu Q, Zhu Z, Yang R, Yuan W, Liu J, Wang Q, Liu M.

J Genet Genomics. 2008 Sep;35(9):553-8. doi: 10.1016/S1673-8527(08)60075-2.

PMID:
18804074
20.

A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.

Sun Y, Zhang Z, Cheng J, Lu Y, Yang CL, Luo YY, Yang G, Yang H, Zhu L, Zhou J, Yao HQ.

J Hum Genet. 2015 Jun;60(6):299-304. doi: 10.1038/jhg.2015.19.

PMID:
25809937
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