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Items: 12

1.
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1 – 14q24.3 in large consanguineous kindred from Pakistan
Muhammad Ansar, Mohammad Amin ud Din, Muhammad Arshad, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Wasim Ahmad, Suzanne M Leal
Eur J Hum Genet. Author manuscript; available in PMC 2010 Aug 7.
Published in final edited form as: Eur J Hum Genet. 2003 Jan; 11(1): 77–80. doi: 10.1038/sj.ejhg.5200905
PMCID:
PMC2917542
AbstractArticlePDF–635K
2.
A novel locus for autosomal dominant non‐syndromic deafness, DFNA53, maps to chromosome 14q11.2‐q12
D Yan, X Ke, S H Blanton, X M Ouyang, A Pandya, L L Du, W E Nance, X Z Liu
J Med Genet. 2006 Feb; 43(2): 170–174. doi: 10.1136/jmg.2005.034710
PMCID:
PMC2564639
AbstractArticlePDF–211K
3.
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
A A Salam, F M Häfner, T E Linder, T Spillmann, A A Schinzel, S M Leal
Am J Hum Genet. 2000 Jun; 66(6): 1984–1988. Published online 2000 Apr 24. doi: 10.1086/302931
PMCID:
PMC1378045
SummaryPDF–193K
4.
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
Takushi Miyoshi, Inna A. Belyantseva, Shin-ichiro Kitajiri, Hiroki Miyajima, Shin-ya Nishio, Shin-ichi Usami, Bong Jik Kim, Byung Yoon Choi, Koichi Omori, Hari Shroff, Thomas B. Friedman
Hum Genet. Author manuscript; available in PMC 2024 Aug 28.
Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 363–382. Published online 2021 Jul 7. doi: 10.1007/s00439-021-02304-0
PMCID:
PMC11351816
AbstractArticlePDF–1.8M
5.
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
6.
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study
Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried
Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159
PMCID:
PMC9007094
AbstractArticlePDF–1.3M
7.
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
8.
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss
Ju Sun Song, Amel Bahloul, Christine Petit, Sang Jin Kim, Il Joon Moon, Jinhyuk Lee, Change-Seok Ki
Ann Lab Med. 2020 May; 40(3): 224–231. Published online 2019 Dec 18. doi: 10.3343/alm.2020.40.3.224
PMCID:
PMC6933062
AbstractArticlePDF–876K
9.
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss
Qinjun Wei, Hongmei Zhu, Xuli Qian, Zhibin Chen, Jun Yao, Yajie Lu, Xin Cao, Guangqian Xing
J Transl Med. 2014; 12: 311. Published online 2014 Nov 12. doi: 10.1186/s12967-014-0311-1
PMCID:
PMC4234825
AbstractArticlePDF–1.4M
10.
DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss
Michael S. Hildebrand, Matías Morín, Nicole C. Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Angeles Mencía, Leticia Olavarrieta, Carmelo Morales-Angulo, Carla J. Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, K. Lachlan, A. Eliot Shearer, Terry A. Braun, Patrick L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J.H. Smith, Miguel A. Moreno-Pelayo
Hum Mutat. Author manuscript; available in PMC 2012 Apr 16.
Published in final edited form as: Hum Mutat. 2011 Jul; 32(7): 825–834. Published online 2011 Jun 7. doi: 10.1002/humu.21512
PMCID:
PMC3326665
AbstractArticlePDF–1.8M
11.
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
12.
The DFNA15 Deafness Mutation Affects POU4F3 Protein Stability, Localization, and Transcriptional Activity
Sigal Weiss, Irit Gottfried, Itay Mayrose, Suvarna L. Khare, Mengqing Xiang, Sally J. Dawson, Karen B. Avraham
Mol Cell Biol. 2003 Nov; 23(22): 7957–7964. doi: 10.1128/MCB.23.22.7957-7964.2003
PMCID:
PMC262385
AbstractArticlePDF–498K

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