Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 87

1.

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y.

Genet Med. 2019 Jul 5. doi: 10.1038/s41436-019-0594-y. [Epub ahead of print]

PMID:
31273342
2.

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

Chen DY, Liu XF, Lin XJ, Zhang D, Chai YC, Yu DH, Sun CL, Wang XL, Zhu WD, Chen Y, Sun LH, Wang XW, Shi FX, Huang ZW, Yang T, Wu H.

Genet Med. 2017 May;19(5):553-558. doi: 10.1038/gim.2016.142. Epub 2016 Sep 22.

PMID:
27657680
3.

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. Print 2013.

4.

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

Choi BY, Park G, Gim J, Kim AR, Kim BJ, Kim HS, Park JH, Park T, Oh SH, Han KH, Park WY.

PLoS One. 2013 Aug 22;8(8):e68692. doi: 10.1371/journal.pone.0068692. eCollection 2013.

5.

Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.

Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X.

Genet Med. 2015 Mar;17(3):210-8. doi: 10.1038/gim.2014.90. Epub 2014 Jul 31.

PMID:
25077649
6.

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW.

PLoS One. 2013 Nov 18;8(11):e79063. doi: 10.1371/journal.pone.0079063. eCollection 2013.

7.

Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.

Deng Y, Sang S, Wen J, Liu Y, Ling J, Chen H, Cai X, Mei L, Chen X, Li M, Li W, Li T, He C, Feng Y.

Int J Pediatr Otorhinolaryngol. 2018 Dec;115:114-119. doi: 10.1016/j.ijporl.2018.08.026. Epub 2018 Sep 12.

PMID:
30368370
8.

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.

Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y.

PLoS One. 2015 Jul 21;10(7):e0133522. doi: 10.1371/journal.pone.0133522. eCollection 2015.

9.

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ.

Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6.

10.

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Guo H, Tong P, Liu Y, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z, Xia K.

Genet Med. 2015 Apr;17(4):300-6. doi: 10.1038/gim.2015.28. Epub 2015 Mar 5.

PMID:
25741866
11.

Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.

Wei Q, Wang S, Yao J, Lu Y, Chen Z, Xing G, Cao X.

J Transl Med. 2013 Jul 4;11:163. doi: 10.1186/1479-5876-11-163.

12.

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

Wang L, Feng Y, Yan D, Qin L, Grati M, Mittal R, Li T, Sundhari AK, Liu Y, Chapagain P, Blanton SH, Liao S, Liu X.

Hum Genet. 2018 Jul;137(6-7):437-446. doi: 10.1007/s00439-018-1895-y. Epub 2018 Jun 2.

13.

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.

Ben Said M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, Yao Q, Hammami B, Yan D, Mittal R, Nakamichi N, Ghorbel A, Neng L, Tekin M, Shi XR, Kato Y, Masmoudi S, Lu Z, Hmani M, Liu X.

Hum Genet. 2016 May;135(5):513-524. doi: 10.1007/s00439-016-1657-7. Epub 2016 Mar 29.

14.

A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.

Shin DH, Jung J, Koh YI, Rim JH, Lee JS, Choi HJ, Joo SY, Yu S, Cha DH, Lee SY, Lee JH, Lee MG, Choi JY, Gee HY.

Hum Mutat. 2019 Mar;40(3):335-346. doi: 10.1002/humu.23698. Epub 2018 Dec 25.

PMID:
30556268
15.

Familial nonsyndromic hearing loss with incomplete partition type II caused by novel DSPP gene mutations.

Li WX, Peng H, Yang L, Hao QQ, Sun W, Ji F, Guo WW, Yang SM.

Acta Otolaryngol. 2018 Aug;138(8):685-690. doi: 10.1080/00016489.2018.1459832. Epub 2018 May 9.

PMID:
29741433
16.

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E.

Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29.

17.

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.

Park G, Gim J, Kim AR, Han KH, Kim HS, Oh SH, Park T, Park WY, Choi BY.

BMC Genomics. 2013 Mar 18;14:191. doi: 10.1186/1471-2164-14-191.

18.

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

Choi HJ, Lee JS, Yu S, Cha DH, Gee HY, Choi JY, Lee JD, Jung J.

BMC Med Genet. 2017 Dec 19;18(1):151. doi: 10.1186/s12881-017-0511-7.

19.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.

Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. Erratum in: Arch Otolaryngol Head Neck Surg. 2011 Jul;137(7):711.

20.

Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.

Kim BJ, Kim AR, Han JH, Lee C, Oh DY, Choi BY.

J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2950.

PMID:
28221712

Supplemental Content

Support Center