PMC Articles for MedGen (Select 355302) - PMC

Result Filters

Links from MedGen

Items: 10

Select item 51730271.

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing

Yalan Liu, Lili Wang, Yong Feng, Chufeng He, Deyuan Liu, Xinzhang Cai, Lu Jiang, Hongsheng Chen, Chang Liu, Hong Wu, Lingyun Mei

PLoS One. 2016; 11(12): e0168508. Published online 2016 Dec 20. doi: 10.1371/journal.pone.0168508

PMCID:: PMC5173027

Article PDF–1.2M

Select item 36273902.

Otoprotective effects of erythropoietin on Cdh23^erl/erl mice

Fengchan Han, Heping Yu, Tihua Zheng, Xiufang Ma, Xin Zhao, Ping Li, Linda Le, Yipeng Su, Qing Yin Zheng

Neuroscience. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Neuroscience. 2013 May 1; 237: 1–6. Published online 2013 Feb 4. doi: 10.1016/j.neuroscience.2013.01.052

PMCID:: PMC3627390

Article PDF–1.1M

Select item 102186093.

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov

Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001

PMCID:: PMC10218609

Article PDF–2.1M

Select item 96734544.

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A

Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai

BMC Med Genomics. 2022; 15: 241. Published online 2022 Nov 18. doi: 10.1186/s12920-022-01368-9

PMCID:: PMC9673454

Article PDF–2.5M

Select item 83913425.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Article PDF–1.2M

Select item 54853446.

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai

Neural Plast. 2017; 2017: 3192090. Published online 2017 Jun 13. doi: 10.1155/2017/3192090

PMCID:: PMC5485344

Article PDF–1.1M

Select item 40364257.

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

Hae-Mi Woo, Hong-Joon Park, Mi-Hyun Park, Bo-Young Kim, Joong-Wook Shin, Won Gi Yoo, Soo Kyung Koo

BMC Med Genet. 2014; 15: 46. Published online 2014 Apr 28. doi: 10.1186/1471-2350-15-46

PMCID:: PMC4036425

Article PDF–867K

Select item 30804338.

Vestibular Dysfunction in DFNB1 deafness

Kelley M Dodson, Susan H Blanton, Katherine O Welch, Virginia W Norris, Regina L Nuzzo, Jacob A. Wegelin, Ruth S Marin, Walter E Nance, Arti Pandya, Kathleen S Arnos

Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 993–1000. Published online 2011 Apr 4. doi: 10.1002/ajmg.a.33828