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Select item 13780841.

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

K Fukushima, N Kasai, Y Ueki, K Nishizaki, K Sugata, S Hirakawa, A Masuda, M Gunduz, Y Ninomiya, Y Masuda, M Sato, W T McGuirt, P Coucke, G Van Camp, R J Smith

Am J Hum Genet. 1999 Jul; 65(1): 141–150. doi: 10.1086/302461

PMCID:: PMC1378084

Summary PDF–348K

Select item 106680432.

Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report

Ivona Sansović, Ana-Maria Meašić, Ljubica Odak, Mijana Kero

Croat Med J. 2023 Oct; 64(5): 329–333. doi: 10.3325/cmj.2023.64.329

PMCID:: PMC10668043

Article PDF–2.1M

Select item 104457433.

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo

Dis Model Mech. 2023 Aug 1; 16(8): dmm049757. Published online 2023 Aug 17. doi: 10.1242/dmm.049757

PMCID:: PMC10445743

Article

Select item 104366294.

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome

Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

BMC Med Genomics. 2023; 16: 192. Published online 2023 Aug 18. doi: 10.1186/s12920-023-01623-7

PMCID:: PMC10436629

Article PDF–2.4M

Select item 100882835.

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh, Sang-Yeon Lee

BMC Med Genomics. 2023; 16: 79. Published online 2023 Apr 11. doi: 10.1186/s12920-023-01506-x

PMCID:: PMC10088283

Article PDF–4.1M

Select item 95504586.

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss

Jingyu Ma, Rongrong Wang, Li Zhang, Shanshan Wang, Shuqing Tong, Xiaohui Bai, Zhiming Lu

Biomed Res Int. 2022; 2022: 5068869. Published online 2022 Oct 3. doi: 10.1155/2022/5068869

PMCID:: PMC9550458

Article PDF–2.4M

Select item 91798447.

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

Chiara Chiereghin, Michela Robusto, Valentina Massa, Pierangela Castorina, Umberto Ambrosetti, Rosanna Asselta, Giulia Soldà

Cells. 2022 Jun; 11(11): 1726. Published online 2022 May 24. doi: 10.3390/cells11111726

PMCID:: PMC9179844

Article PDF–967K

Select item 90070948.

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

Article PDF–1.3M

Select item 86181079.

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

Article PDF–1.1M

Select item 853594010.

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

Article PDF–1.1M

Select item 788429511.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti

Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 13. Published online 2021 Feb 12. doi: 10.1167/iovs.62.2.13

PMCID:: PMC7884295

Article PDF–1.2M

Select item 755330812.

Aldh inhibitor restores auditory function in a mouse model of human deafness

Guang-Jie Zhu, Sihao Gong, Deng-Bin Ma, Tao Tao, Wei-Qi He, Linqing Zhang, Fang Wang, Xiao-Yun Qian, Han Zhou, Chi Fan, Pei Wang, Xin Chen, Wei Zhao, Jie Sun, Huaqun Chen, Ye Wang, Xiang Gao, Jian Zuo, Min-Sheng Zhu, Xia Gao, Guoqiang Wan

PLoS Genet. 2020 Sep; 16(9): e1009040. Published online 2020 Sep 24. doi: 10.1371/journal.pgen.1009040

PMCID:: PMC7553308

Article PDF–3.2M

Select item 734962713.

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

Select item 705299314.

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation

Emanuela Postiglione, Elena Antelmi, Fabio Pizza, Stefano Vandi, Chiara La Morgia, Valerio Carelli, Stefania Nassetti, Marco Seri, Giuseppe Plazzi

J Clin Sleep Med. 2020 Jan 15; 16(1): 143–147. Published online 2020 Jan 15. doi: 10.5664/jcsm.8140

PMCID:: PMC7052993

Article PDF–632K

Select item 693306215.

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

Article PDF–876K

Select item 665925016.

Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report

Ji-mei Su, Su-juan Zeng, Xiao-wei Ye, Zhi-fang Wu, Xin-wen Huang, Janak L. Pathak

BMC Oral Health. 2019; 19: 164. Published online 2019 Jul 25. doi: 10.1186/s12903-019-0860-z

PMCID:: PMC6659250

Article PDF–3.3M

Select item 618113617.

Hereditäre Schwerhörigkeit in der Türkei

F. Apaydin, M. Pfister, M. Iber, T. Kandogan, S.M. Leal, U. Brändle, O. Cura, H.P Zenner

HNO. Author manuscript; available in PMC 2018 Oct 11.German.

Published in final edited form as: HNO. 1998 Sep; 46(9): 809–814. doi: 10.1007/s001060050317

PMCID:: PMC6181136

Article PDF–643K

Select item 597009818.

MYH9: STRUCTURE, FUNCTIONS AND ROLE OF NON-MUSCLE MYOSIN IIA IN HUMAN DISEASE

Alessandro Pecci, Xuefei Ma, Anna Savoia, Robert S. Adelstein

Gene. Author manuscript; available in PMC 2019 Jul 20.

Published in final edited form as: Gene. 2018 Jul 20; 664: 152–167. Published online 2018 Apr 19. doi: 10.1016/j.gene.2018.04.048

PMCID:: PMC5970098

Article PDF–1.2M

Select item 590479419.

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

Xue Gao, Jin-Cao Xu, Wei-Qian Wang, Yong-Yi Yuan, Dan Bai, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jia Li, Dong-Yang Kang, Mei-Guang Zhang, Xi Lin, Pu Dai

Biomed Res Int. 2018; 2018: 5370802. Published online 2018 Apr 4. doi: 10.1155/2018/5370802