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Items: 1 to 20 of 23

1.
Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse
Guang‐Jie Zhu, Yuhang Huang, Linqing Zhang, Keji Yan, Cui Qiu, Yihan He, Qing Liu, Chengwen Zhu, Matías Morín, Miguel Ángel Moreno‐Pelayo, Min‐Sheng Zhu, Xin Cao, Han Zhou, Xiaoyun Qian, Zhigang Xu, Jie Chen, Xia Gao, Guoqiang Wan
EMBO Mol Med. 2023 Nov; 15(11): e17611. Published online 2023 Sep 11. doi: 10.15252/emmm.202317611
PMCID:
PMC10630877
AbstractArticlePDF–5.3M
2.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu
J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708
PMCID:
PMC9701874
AbstractArticlePDF–2.0M
3.
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss
Peiliang Lei, Qingwen Zhu, Wenrong Dong, Siqi Zhang, Yanyan Sun, Xitong Du, Meng Geng, Yuan Jiang
PLoS One. 2022; 17(11): e0276233. Published online 2022 Nov 9. doi: 10.1371/journal.pone.0276233
PMCID:
PMC9645625
AbstractArticlePDF–1.6M
4.
Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan, Juanmei Yang
BMC Med Genomics. 2022; 15: 113. Published online 2022 May 16. doi: 10.1186/s12920-022-01269-x
PMCID:
PMC9109401
AbstractArticlePDF–1.0M
5.
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
Shin-ya Nishio, Shin-ichi Usami
Hum Genet. 2022; 141(3-4): 929–937. Published online 2021 Sep 14. doi: 10.1007/s00439-021-02364-2
PMCID:
PMC9034981
AbstractArticlePDF–487K
6.
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
Christel Vaché, David Baux, Julie Bianchi, Corinne Baudoin, Valérie Faugère, Christine Francannet, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Eur J Hum Genet. 2022 Jan; 30(1): 34–41. Published online 2021 Dec 3. doi: 10.1038/s41431-021-01010-9
PMCID:
PMC8738754
AbstractArticlePDF–1.1M
7.
A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population
Ting-Ting Yen, I-Chieh Chen, Men-Wei Hua, Chia-Yi Wei, Kai-Hsiang Shih, Jui-Lin Li, Ching-Heng Lin, Tzu-Hung Hsiao, Yi-Ming Chen, Rong-San Jiang
Genes (Basel) 2021 Nov; 12(11): 1711. Published online 2021 Oct 27. doi: 10.3390/genes12111711
PMCID:
PMC8618107
AbstractArticlePDF–1.1M
8.
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants
Ken Hiramatsu, Shin-ya Nishio, Shin-ichiro Kitajiri, Tomohiro Kitano, Hideaki Moteki, Shin-ichi Usami, on behalf of the Deafness Gene Study Consortium
Genes (Basel) 2021 Oct; 12(10): 1623. Published online 2021 Oct 15. doi: 10.3390/genes12101623
PMCID:
PMC8535940
AbstractArticlePDF–1.1M
9.
A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non-syndromic deafness 2A
Qiong Li, Pengfei Liang, Shujuan Wang, Wei Li, Jian Wang, Yang Yang, Xiaogang An, Jun Chen, Dingjun Zha
Mol Med Rep. 2021 Jun; 23(6): 420. Published online 2021 Apr 1. doi: 10.3892/mmr.2021.12059
PMCID:
PMC8025472
AbstractArticlePDF–1.5M
10.
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss
Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh
Biomolecules. 2021 Jan; 11(1): 61. Published online 2021 Jan 5. doi: 10.3390/biom11010061
PMCID:
PMC7824951
AbstractArticlePDF–2.2M
11.
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller
Genes (Basel) 2020 Dec; 11(12): 1467. Published online 2020 Dec 7. doi: 10.3390/genes11121467
PMCID:
PMC7762334
AbstractArticlePDF–3.1M
12.
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Kevin T. Booth, Hela Azaiez, Richard J. H. Smith
Int J Mol Sci. 2020 Jun; 21(11): 3951. Published online 2020 May 31. doi: 10.3390/ijms21113951
PMCID:
PMC7312536
AbstractArticlePDF–1.3M
13.
Targeted Gene Capture and Massively Parallel Sequencing Identify TMC1 as the Causative Gene in a Six-generation Chinese Family with Autosomal Dominant Hearing Loss
Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin, Pu Dai
Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2357–2365. Published online 2015 Jun 16. doi: 10.1002/ajmg.a.37206
PMCID:
PMC4567392
AbstractArticlePDF–786K
14.
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain
Hyun-Ju Cho, Hong-Joon Park, Maria Trexler, Hanka Venselaar, Kyu Yup Lee, Nahid G. Robertson, Jeong-In Baek, Beom Sik Kang, Cynthia C. Morton, Gert Vriend, László Patthy, Un-Kyung Kim
J Mol Med (Berl) Author manuscript; available in PMC 2015 Mar 17.
Published in final edited form as: J Mol Med (Berl). 2012 Nov; 90(11): 1321–1331. Published online 2012 May 19. doi: 10.1007/s00109-012-0911-2
PMCID:
PMC4361775
AbstractArticlePDF–1.6M
15.
SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
Hee-Jin Kim, Hong-Hee Won, Kyoung-Jin Park, Sung Hwa Hong, Chang-Seok Ki, Sang Sun Cho, Hanka Venselaar, Gert Vriend, Jong-Won Kim
PLoS One. 2013; 8(11): e79063. Published online 2013 Nov 18. doi: 10.1371/journal.pone.0079063
PMCID:
PMC3832514
AbstractArticlePDF–942K
16.
Identification and Functional Study of a New Missense Mutation in the Motor Head Domain of Myosin VIIA in a Family with Autosomal Dominant Hearing Impairment (DFNA11)
Qing Sang, Xukun Yan, Huan Wang, Ruizhi Feng, Xiang Fei, Duan Ma, Qinghe Xing, Qiaoli Li, Xinzhi Zhao, Li Jin, Lin He, Huawei Li, Lei Wang
PLoS One. 2013; 8(1): e55178. Published online 2013 Jan 29. doi: 10.1371/journal.pone.0055178
PMCID:
PMC3558421
AbstractArticlePDF–496K
17.
Two Iranian Families with a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss
Niloofar Bazazzadegan, Abraham M. Sheffield, Masoomeh Sobhani, Kimia Kahrizi, Nicole C Meyer, Guy Van Camp, Nele Hilgert, Seyedeh Sedigheh Abedini, Farkhondeh Habibi, Ahmad Daneshi, Carla Nishimura, Matthew R. Avenarius, Mohammad Farhadi, Richard J.H. Smith, Hossein Najmabadi
Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.
Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 1202–1211. Published online 2011 Apr 11. doi: 10.1002/ajmg.a.33209
PMCID:
PMC3080436
AbstractArticlePDF–1.5M
18.
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Nele Hilgert, Richard J.H. Smith, Guy Van Camp
Mutat Res. Author manuscript; available in PMC 2010 Mar 31.
Published in final edited form as: Mutat Res. 2009 Mar–Jun; 681(2-3): 189–196. Published online 2008 Aug 29. doi: 10.1016/j.mrrev.2008.08.002
PMCID:
PMC2847850
AbstractArticlePDF–77K
19.
A Novel Allele of Myosin VIIa Reveals a Critical Function for the C-Terminal FERM Domain for Melanosome Transport in Retinal Pigment Epithelial Cells
Martin Schwander, Vanda Lopes, Anna Sczaniecka, Daniel Gibbs, Concepcion Lillo, David Delano, Lisa M. Tarantino, Tim Wiltshire, David S. Williams, Ulrich Müller
J Neurosci. 2009 Dec 16; 29(50): 15810–15818. doi: 10.1523/JNEUROSCI.4876-09.2009
PMCID:
PMC2834289
AbstractArticlePDF–3.0M
20.
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
K Verhoeven, G Van Camp, P J Govaerts, W Balemans, I Schatteman, M Verstreken, L Van Laer, R J Smith, M R Brown, P H Van de Heyning, T Somers, F E Offeciers, P J Willems
Am J Hum Genet. 1997 May; 60(5): 1168–1173.
PMCID:
PMC1712440
SummaryPage BrowsePDF–918K

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