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Items: 1 to 20 of 115

1.

Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.

Pang X, Chai Y, Sun L, Chen D, Chen Y, Zhang Z, Wu H, Yang T.

PLoS One. 2014 Jun 19;9(6):e100483. doi: 10.1371/journal.pone.0100483. eCollection 2014.

2.

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

Zheng J, Ying Z, Cai Z, Sun D, He Z, Gao Y, Zhang T, Zhu Y, Chen Y, Guan MX.

PLoS One. 2015 Jun 4;10(6):e0128691. doi: 10.1371/journal.pone.0128691. eCollection 2015.

3.

De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.

Huang S, Yuan Y, Liu J, Han D, Kang D, Zhang X, Dong M, Yan X, Dai P.

Int J Pediatr Otorhinolaryngol. 2011 Oct;75(10):1333-6. doi: 10.1016/j.ijporl.2011.07.033. Epub 2011 Aug 24.

PMID:
21868108
4.

R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.

Jiang SJ, Di ZH, Huang D, Zhang JB, Zhang YY, Li SQ, He R.

Int J Pediatr Otorhinolaryngol. 2014 Sep;78(9):1461-6. doi: 10.1016/j.ijporl.2014.06.008. Epub 2014 Jun 16.

PMID:
24975403
5.

[The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].

Huang S, Huang B, Yuan Y, Wang G, Dai P.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014 Nov;28(22):1744-7. Chinese.

PMID:
25752103
6.

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.

Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID.

Am J Med Genet A. 2013 Sep;161A(9):2148-57. doi: 10.1002/ajmg.a.36042. Epub 2013 Jul 19.

7.

Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.

Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.

Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi: 10.1002/ajmg.a.33464.

PMID:
20583176
8.

Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.

Huang S, Wang G, Xu Y, Yuan Y, Han D, Dai P.

Acta Otolaryngol. 2013 Jan;133(1):55-8. doi: 10.3109/00016489.2012.715373. Epub 2012 Sep 19. Erratum in: Acta Otolaryngol. 2013 Jun;133(6):672.

PMID:
22991996
9.

Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.

Zhao FF, Ji YB, Wang DY, Lan L, Han MK, Li Q, Zhao Y, Rao S, Han D, Wang QJ.

Genet Test Mol Biomarkers. 2011 Sep;15(9):619-25. doi: 10.1089/gtmb.2010.0192. Epub 2011 Apr 13.

PMID:
21488715
10.

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.

Yuan Y, Yu F, Wang G, Huang S, Yu R, Zhang X, Huang D, Han D, Dai P.

J Transl Med. 2010 Dec 2;8:127. doi: 10.1186/1479-5876-8-127.

11.

GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families.

Chen G, Liu J, Dong J, Li J, Fu S.

Int J Pediatr Otorhinolaryngol. 2014 Feb;78(2):244-7. doi: 10.1016/j.ijporl.2013.11.013. Epub 2013 Dec 1.

PMID:
24359977
12.

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB, Richard G.

J Cell Sci. 2001 Jun;114(Pt 11):2105-13.

13.

Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population.

Liu Y, Ke X, Qi Y, Li W, Zhu P.

J Hum Genet. 2002;47(12):688-90.

PMID:
12522692
14.
15.

[Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city].

Yuan Y, Huang D, Dai P, Zhu X, Yu F, Zhang X, Liu L, Han D.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2008 Jan;22(1):14-7, 21. Chinese.

PMID:
18338563
16.

The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.

Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Liu X, He J, Huang D, Kang D, Zhang X, Yuan H, Schmitt E, Han D, Wong LJ.

Genet Med. 2007 May;9(5):283-9.

PMID:
17505205
17.

A large cohort study of GJB2 mutations in Japanese hearing loss patients.

Tsukada K, Nishio S, Usami S; Deafness Gene Study Consortium..

Clin Genet. 2010 Nov;78(5):464-70. doi: 10.1111/j.1399-0004.2010.01407.x.

PMID:
20497192
18.

Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.

Kim J, Jung J, Lee MG, Choi JY, Lee KA.

Exp Mol Med. 2015 Jun 19;47:e169. doi: 10.1038/emm.2015.32.

19.

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

Jiang H, Chen J, Shan XJ, Li Y, He JG, Yang BB.

Mol Med Rep. 2014 Jul;10(1):379-86. doi: 10.3892/mmr.2014.2148. Epub 2014 Apr 15.

PMID:
24737404
20.

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.

Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.

Clin Genet. 2002 Oct;62(4):306-9.

PMID:
12372058

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