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Items: 1 to 20 of 41

1.
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan
BMC Med Genomics. 2024; 17: 4. Published online 2024 Jan 2. doi: 10.1186/s12920-023-01777-4
PMCID:
PMC10763153
AbstractArticlePDF–2.6M
2.
Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss
Luming Wang, Yue Zhang, Qiuxia Xue, Pinghua Huang, Xiaodan Liu
J Clin Lab Anal. 2022 Oct; 36(10): e24653. Published online 2022 Aug 10. doi: 10.1002/jcla.24653
PMCID:
PMC9551133
AbstractArticlePDF–5.2M
3.
Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
Ying Fu, Shasha Huang, Xue Gao, Mingyu Han, Guojian Wang, Dongyang Kang, Yongyi Yuan, Pu Dai
BMC Med Genomics. 2022; 15: 71. Published online 2022 Mar 26. doi: 10.1186/s12920-022-01201-3
PMCID:
PMC8962197
AbstractArticlePDF–1.3M
4.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J. H. Smith, Jun Shen
Eur J Hum Genet. 2021 Jun; 29(6): 988–997. Published online 2021 Jan 4. doi: 10.1038/s41431-020-00790-w
PMCID:
PMC8187401
AbstractArticlePDF–1.7M
5.
Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss
Xiao-Hui Wang, Le Xie, Sen Chen, Kai Xu, Xue Bai, Yuan Jin, Yue Qiu, Xiao-Zhou Liu, Yu Sun, Wei-Jia Kong
Neural Plast. 2021; 2021: 9957712. Published online 2021 May 14. doi: 10.1155/2021/9957712
PMCID:
PMC8140830
AbstractArticlePDF–814K
6.
Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees
Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian, Samira Asgharzade
BMC Med Genet. 2020; 21: 226. Published online 2020 Nov 18. doi: 10.1186/s12881-020-01168-x
PMCID:
PMC7672957
AbstractArticlePDF–1.0M
7.
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang
BMC Med Genet. 2019; 20: 60. Published online 2019 Apr 5. doi: 10.1186/s12881-019-0790-2
PMCID:
PMC6451310
AbstractArticlePDF–6.6M
8.
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness
Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi
BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9
PMCID:
PMC6389081
AbstractArticlePDF–1.3M
9.
A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report
Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang, Shayan Wang
BMC Med Genet. 2018; 19: 133. Published online 2018 Aug 1. doi: 10.1186/s12881-018-0657-y
PMCID:
PMC6090657
AbstractArticlePDF–2.0M
10.
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang
Neural Plast. 2018; 2018: 5898025. Published online 2018 Apr 5. doi: 10.1155/2018/5898025
PMCID:
PMC5907479
AbstractArticlePDF–1.1M
11.
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil
GABRIELLE N. MANZOLI, GUNEY BADEMCI, ANGELINA X. ACOSTA, TÊMIS M. FÉLIX, F.BASAK CENGIZ, JOSEPH FOSTER, II, DANNIEL S. DIAS DA SILVA, IBIS MENENDEZ, ISALIS SANCHEZ-PENA, DEMET TEKIN, SUSAN H. BLANTON, KIYOKO ABE-SANDES, XUE ZHONG LIU, MUSTAFA TEKIN
Ann Hum Genet. Author manuscript; available in PMC 2017 Nov 1.
Published in final edited form as: Ann Hum Genet. 2016 Nov; 80(6): 327–331. doi: 10.1111/ahg.12177
PMCID:
PMC5127167
AbstractArticlePDF–63K
12.
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman
Hum Mutat. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Hum Mutat. 2016 Oct; 37(10): 991–1003. Published online 2016 Aug 21. doi: 10.1002/humu.23042
PMCID:
PMC5021573
AbstractArticlePDF–1.7M
13.
Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation
J-R Chen, Z-H Tang, J Zheng, H-S Shi, J Ding, X-D Qian, C Zhang, J-L Chen, C-C Wang, L Li, J-Z Chen, S-K Yin, J-Z Shao, T-S Huang, P Chen, M-X Guan, J-F Wang
Cell Death Differ. 2016 Aug; 23(8): 1347–1357. Published online 2016 Feb 26. doi: 10.1038/cdd.2016.16
PMCID:
PMC4947666
AbstractArticlePDF–5.8M
14.
Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing
Mun Young Chang, Ah Reum Kim, Nayoung K.D. Kim, Chung Lee, Kyoung Yeul Lee, Woo-Sung Jeon, Ja-Won Koo, Seung Ha Oh, Woong-Yang Park, Dongsup Kim, Byung Yoon Choi
Mol Cells. 2015 Sep 30; 38(9): 781–788. Published online 2015 Aug 4. doi: 10.14348/molcells.2015.0078
PMCID:
PMC4588721
AbstractArticlePDF–1.4M
15.
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
Hong Xia, Xiangjun Huang, Yi Guo, Pengzhi Hu, Guangxiang He, Xiong Deng, Hongbo Xu, Zhijian Yang, Hao Deng
PLoS One. 2015; 10(8): e0136306. Published online 2015 Aug 26. doi: 10.1371/journal.pone.0136306
PMCID:
PMC4550393
AbstractArticlePDF–884K
16.
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
Xue Gao, Qing-yan Zhu, Yue-Shuai Song, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Sha-Sha Huang, Dong-Yang Kang, Ming-Yu Han, Li-ping Guan, Jian-guo Zhang, Pu Dai
J Transl Med. 2013; 11: 284. Published online 2013 Nov 9. doi: 10.1186/1479-5876-11-284
PMCID:
PMC3828584
AbstractArticlePDF–1.6M
17.
Screening for MYO15A Gene Mutations in Autosomal Recessive Nonsyndromic, GJB2 Negative Iranian Deaf Population
Zohreh Fattahi, A. Eliot Shearer, Mojgan Babanejad, Niloofar Bazazzadegan, Seyed Navid Almadani, Nooshin Nikzat, Khadijeh Jalalvand, Sanaz Arzhangi, Fatemehsadat Esteghamat, Rezvan Abtahi, Batool Azadeh, Richard J.H. Smith, Kimia Kahrizi, Hossein Najmabadi
Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 29.
Published in final edited form as: Am J Med Genet A. 2012 Aug; 0(8): 1857–1864. Published online 2012 Jun 26. doi: 10.1002/ajmg.a.34411
PMCID:
PMC3757123
AbstractArticlePDF–1.7M
18.
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park, Un-Kyung Kim, Borum Sagong, Soo Kyung Koo
BMC Med Genet. 2013; 14: 72. Published online 2013 Jul 17. doi: 10.1186/1471-2350-14-72
PMCID:
PMC3727941
AbstractArticlePDF–1.3M
19.
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
Rasheeda Bashir, Amara Fatima, Sadaf Naz
Eur J Med Genet. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Eur J Med Genet. 2012 Feb; 55(2): 99–102. Published online 2011 Dec 30. doi: 10.1016/j.ejmg.2011.12.003
PMCID:
PMC3534775
AbstractArticlePDF–860K
20.
Mutations in the MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
A. Eliot Shearer, Michael S. Hildebrand, Jennifer A. Webster, Kimia Kahrizi, Khadijeh Jalalvand, Sanaz Arzhanginy, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Richard J.H. Smith, Hossein Najmabadi
Laryngoscope. Author manuscript; available in PMC 2010 Jun 14.
Published in final edited form as: Laryngoscope. 2009 Apr; 119(4): 727–733. doi: 10.1002/lary.20116
PMCID:
PMC2885251
AbstractArticlePDF–675K

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