PMC Articles for MedGen (Select 324846) - PMC

Select item 48337871.

Genetics of vestibular disorders: pathophysiological insights

Lidia Frejo, Ina Giegling, Roberto Teggi, Jose A. Lopez-Escamez, Dan Rujescu

J Neurol. 2016; 263: 45–53. Published online 2016 Apr 15. doi: 10.1007/s00415-015-7988-9

PMCID:: PMC4833787

Select item 43634782.

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss

Ye-Ri Kim, Min-A Kim, Borum Sagong, Seung-Hyun Bae, Hyo-Jeong Lee, Hyung-Jong Kim, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

PLoS One. 2015; 10(3): e0119443. Published online 2015 Mar 17. doi: 10.1371/journal.pone.0119443

PMCID:: PMC4363478

Abstract Article PDF–867K

Select item 38847663.

Confirmation of GRHL2 as the gene for the DFNA28 locus

Barbara Vona, Indrajit Nanda, Cordula Neuner, Tobias Müller, Thomas Haaf

Am J Med Genet A. 2013 Aug; 161(8): 2060–2065. Published online 2013 Jun 27. doi: 10.1002/ajmg.a.36017

PMCID:: PMC3884766

Abstract Article PDF–1.2M

Select item 56747324.

A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles

Khaled K. Abu-Amero, Altaf A. Kondkar, Arif O. Khan

BMC Res Notes. 2017; 10: 562. Published online 2017 Nov 6. doi: 10.1186/s13104-017-2888-y

PMCID:: PMC5674732

Abstract Article PDF–902K

Select item 108055105.

Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree

Jingliang Cheng, Ting Li, Qi Tan, Jiewen Fu, Lianmei Zhang, Luquan Yang, Baixu Zhou, Lisha Yang, Shangyi Fu, Alora Grace Linehan, Junjiang Fu

J Cell Mol Med. 2024 Jan; 28(1): e18004. Published online 2023 Oct 20. doi: 10.1111/jcmm.18004

PMCID:: PMC10805510

Abstract Article PDF–3.9M

Select item 73496276.

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

Abstract Article PDF–1.0M

Select item 59047947.

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

PMCID:: PMC5904794

Abstract Article PDF–1.0M

Select item 37283568.

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss

Yali Zhao, Feifan Zhao, Liang Zong, Peng Zhang, Liping Guan, Jianguo Zhang, Dayong Wang, Jing Wang, Wei Chai, Lan Lan, Qian Li, Bing Han, Ling Yang, Xin Jin, Weiyan Yang, Xiaoxiang Hu, Xiaoning Wang, Ning Li, Yingrui Li, Christine Petit, Jun Wang, Huanming Yang Jian Wang, Qiuju Wang

PLoS One. 2013; 8(7): e69549. Published online 2013 Jul 30. doi: 10.1371/journal.pone.0069549

PMCID:: PMC3728356

Abstract Article PDF–581K

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