Huang S - Search Results

1

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P. Han M, et al. Among authors: huang s. Genet Med. 2017 Dec;19(12):1309-1316. doi: 10.1038/gim.2017.54. Epub 2017 May 25. Genet Med. 2017. PMID: 28541280 Free article.

2

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. Yuan Y, et al. Among authors: huang d, huang s. J Transl Med. 2010 Dec 2;8:127. doi: 10.1186/1479-5876-8-127. J Transl Med. 2010. PMID: 21122151 Free PMC article.

3

[Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].

Wang G, Yuan Y, Li R, Han M, Huang S, Kang D, Zhang X, Dong M, Dai P, Han D. Wang G, et al. Among authors: huang s. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 May;25(10):445-8. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011. PMID: 21809555 Chinese.

4

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. Huang S, et al. Int J Pediatr Otorhinolaryngol. 2011 Oct;75(10):1333-6. doi: 10.1016/j.ijporl.2011.07.033. Epub 2011 Aug 24. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21868108

5

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, Yan X, Meng X, Dong M, Dai P. Huang S, et al. J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167. J Transl Med. 2011. PMID: 21961810 Free PMC article.

6

[Prenatal genetic counseling and instruction for deaf families by genetic test].

Han MY, Huang SS, Wang GJ, Yuan YY, Kang DY, Zhang X, Dai P. Han MY, et al. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 Nov;46(11):909-13. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011. PMID: 22335977 Chinese.

7

Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.

Yuan Y, Zhang X, Huang S, Zuo L, Zhang G, Song Y, Wang G, Wang H, Huang D, Han D, Dai P. Yuan Y, et al. Among authors: huang d, huang s. PLoS One. 2012;7(2):e30720. doi: 10.1371/journal.pone.0030720. Epub 2012 Feb 28. PLoS One. 2012. PMID: 22389666 Free PMC article.

8

[Prenatal genetic test and clinical guidance for 213 hereditary deaf families].

Han MY, Lu YP, Bian XM, Wang LX, Huang SS, Wang GJ, Wang Y, Kang DY, Zhang X, Dai P. Han MY, et al. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Feb;47(2):127-31. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012. PMID: 22455811 Chinese.

9

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.

Zhao J, Yuan Y, Chen J, Huang S, Wang G, Han D, Dai P. Zhao J, et al. Among authors: huang s. J Transl Med. 2012 May 2;10:82. doi: 10.1186/1479-5876-10-82. J Transl Med. 2012. PMID: 22551242 Free PMC article.

10

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. Huang S, et al. Acta Otolaryngol. 2013 Jan;133(1):55-8. doi: 10.3109/00016489.2012.715373. Epub 2012 Sep 19. Acta Otolaryngol. 2013. PMID: 22991996

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