PMC Articles for MedGen (Select 387916) - PMC

Select item 66271141.

Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Olga L. Posukh, Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov, Michael I. Voevoda

Genes (Basel) 2019 Jun; 10(6): 429. Published online 2019 Jun 5. doi: 10.3390/genes10060429

PMCID:: PMC6627114

Abstract Article PDF–1.2M

Select item 50589132.

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis

Ya-Jie Lu, Jun Yao, Qin-Jun Wei, Guang-Qian Xing, Xin Cao

Medicine (Baltimore) 2015 Dec; 94(50): e2248. Published online 2015 Dec 18. doi: 10.1097/MD.0000000000002248

PMCID:: PMC5058913

Abstract Article PDF–690K

Select item 100882833.

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

Abstract Article PDF–4.1M

Select item 29091074.

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23

G Ali, RLP Santos, P John, MAL Wambangco, K Lee, W Ahmad, SM Leal

Clin Genet. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Clin Genet. 2006 May; 69(5): 429–433. doi: 10.1111/j.1399-0004.2006.00611.x

PMCID:: PMC2909107

Abstract Article PDF–645K

Select item 28333765.

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik

Am J Hum Genet. 2010 Mar 12; 86(3): 479–484. doi: 10.1016/j.ajhg.2010.02.003

PMCID:: PMC2833376

Abstract Article PDF–730K

Select item 13770466.

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

P M Kelley, D J Harris, B C Comer, J W Askew, T Fowler, S D Smith, W J Kimberling

Am J Hum Genet. 1998 Apr; 62(4): 792–799. doi: 10.1086/301807

PMCID:: PMC1377046

Summary PDF–492K

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