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Select item 103372731.

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

Ziying Yang, Minhong Huang, Xiuxiu Wei, Jun Sun, Fuping Zhang

Mol Genet Genomic Med. 2023 Jul; 11(7): e2193. Published online 2023 May 25. doi: 10.1002/mgg3.2193

PMCID:: PMC10337273

Article PDF–1.7M

Select item 94508652.

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region

Luciana Santos Serrão de Castro, Anderson Nonato do Rosario Marinho, Elzemar Martins Ribeiro Rodrigues, Giorgio Christie Tavares Marques, Tarcísio André Amorim de Carvalho, Luiz Carlos Santana da Silva, Sidney Emanuel Batista dos Santos

Braz J Otorhinolaryngol. 2013 Jan-Feb; 79(1): 95–99. Published online 2015 Oct 14. doi: 10.5935/1808-8694.20130016

PMCID:: PMC9450865

Article PDF–179K

Select item 94490523.

Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss

Hua Jiang, Jia Chen, Ying Li, Peng-Fang Lin, Jian-Guo He, Bei-Bei Yang

Braz J Otorhinolaryngol. 2016 Jul-Aug; 82(4): 391–396. Published online 2015 Nov 5. doi: 10.1016/j.bjorl.2015.06.006

PMCID:: PMC9449052

Article PDF–567K

Select item 94460144.

C1494T mitochondrial dna mutation, hearing loss, and aminoglycosides antibiotics

Mariana Postal, Bruna Palodeto, Edi Lúcia Sartorato, Camila Andréa de Oliveira

Braz J Otorhinolaryngol. 2009 Nov-Dec; 75(6): 884–887. Published online 2015 Oct 19. doi: 10.1016/S1808-8694(15)30554-1

PMCID:: PMC9446014

Article PDF–236K

Select item 94428315.

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population

Felippe Felix, Marcia Gonçalves Ribeiro, Shiro Tomita, Mariano Gustavo Zalis

Braz J Otorhinolaryngol. 2019 Jan-Feb; 85(1): 92–98. Published online 2017 Nov 21. doi: 10.1016/j.bjorl.2017.10.013

PMCID:: PMC9442831

Article PDF–461K

Select item 93060516.

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family

Qiong Li, Shujuan Wang, Pengfei Liang, Wei Li, Jian Wang, Bei Fan, Yang Yang, Xiaogang An, Jun Chen, Dingjun Zha

BMC Med Genomics. 2022; 15: 163. Published online 2022 Jul 21. doi: 10.1186/s12920-022-01315-8

PMCID:: PMC9306051

Article PDF–2.1M

Select item 92049797.

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss

Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo, Huawei Li

BMC Med Genomics. 2022; 15: 135. Published online 2022 Jun 17. doi: 10.1186/s12920-022-01289-7

PMCID:: PMC9204979

Article PDF–1.1M

Select item 91094018.

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

Article PDF–1.0M

Select item 88919239.

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China

Panpan Bian, Baicheng Xu, Xiaoyun Zhao, YiMing Zhu, Chi Chen, XingJian Chen, Xiaowen Liu, Yanli Wang, Yufen Guo

Inquiry. 2022 Jan-Dec; 59: 00469580211055571. Published online 2022 Feb 25. doi: 10.1177/00469580211055571

PMCID:: PMC8891923

Article PDF–932K

Select item 862863210.

Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss

Takashi Kojima, Koichiro Wasano, Satoe Takahashi, Kazuaki Homma

Dis Model Mech. 2021 Nov 1; 14(11): dmm049015. Published online 2021 Nov 26. doi: 10.1242/dmm.049015

PMCID:: PMC8628632

Article

Select item 822645611.

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Nika V. Petrova, Andrey V. Marakhonov, Natalia V. Balinova, Anna V. Abrukova, Fedor A. Konovalov, Sergey I. Kutsev, Rena A. Zinchenko

Genes (Basel) 2021 Jun; 12(6): 820. Published online 2021 May 27. doi: 10.3390/genes12060820

PMCID:: PMC8226456

Article PDF–1.2M

Select item 818740112.

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

Article PDF–1.7M

Select item 800100713.

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

María Lachgar, Matías Morín, Manuela Villamar, Ignacio del Castillo, Miguel Ángel Moreno-Pelayo

Genes (Basel) 2021 Mar; 12(3): 411. Published online 2021 Mar 12. doi: 10.3390/genes12030411

PMCID:: PMC8001007

Article PDF–941K

Select item 776756814.

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi

Mol Genet Genomic Med. 2020 Dec; 8(12): e1550. Published online 2020 Nov 18. doi: 10.1002/mgg3.1550

PMCID:: PMC7767568

Article PDF–1.9M

Select item 771441215.

Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss

Limei Cui, Jing Zheng, Qiong Zhao, Jia-Rong Chen, Hanqing Liu, Guanghua Peng, Yue Wu, Chao Chen, Qiufen He, Haosong Shi, Shankai Yin, Rick A. Friedman, Ye Chen, Min-Xin Guan

JCI Insight. 2020 Dec 3; 5(23): e136046. Published online 2020 Dec 3. doi: 10.1172/jci.insight.136046

PMCID:: PMC7714412

Article PDF–60M

Select item 743473216.

Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss

Jing Guan, Hongyang Wang, Lan Lan, Yusen Wu, Guohui Chen, Cui Zhao, Dayong Wang, Qiuju Wang

Mol Genet Genomic Med. 2020 Aug; 8(8): e1367. Published online 2020 Jun 22. doi: 10.1002/mgg3.1367

PMCID:: PMC7434732

Article PDF–1.0M

Select item 739815117.

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

Doo-Yi Oh, Yoshihiro Matsumoto, Shin-ichiro Kitajiri, Nayoung K.D. Kim, Min Young Kim, Ah Reum Kim, Mingyu Lee, Chung Lee, Alan E. Tomkinson, Tatsuya Katsuno, So Young Kim, Hyun-Woo Shin, Jin Hee Han, Seungmin Lee, Woong-Yang Park, Byung Yoon Choi

Hum Mutat. Author manuscript; available in PMC 2020 Aug 3.

Published in final edited form as: Hum Mutat. 2020 May; 41(5): 913–920. Published online 2020 Jan 30. doi: 10.1002/humu.23984

PMCID:: PMC7398151

Article PDF–927K

Select item 739174918.

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

Supranee Thongpradit, Natini Jinawath, Asif Javed, Saisuda Noojarern, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Bhoom Suktitipat, Laran T. Jensen, Duangrurdee Wattanasirichaigoon

Sci Rep. 2020; 10: 12712. Published online 2020 Jul 29. doi: 10.1038/s41598-020-69633-4

PMCID:: PMC7391749

Article PDF–2.4M

Select item 738204819.

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss

Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai, Haibo Wang

BMC Med Genet. 2020; 21: 154. Published online 2020 Jul 25. doi: 10.1186/s12881-020-01086-y

PMCID:: PMC7382048

Article PDF–1.8M

Select item 734962720.

Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss

Tian-Yi Cui, Xue Gao, Sha-Sha Huang, Yan-Yan Sun, Si-Qi Zhang, Xin-Xia Jiang, Yan-Zhong Yang, Dong-Yang Kang, Qing-Wen Zhu, Yong-Yi Yuan

Neural Plast. 2020; 2020: 6137083. Published online 2020 Jul 1. doi: 10.1155/2020/6137083

PMCID:: PMC7349627

Article PDF–1.0M

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