Yang SZ - Search Results

1

[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

Yang SZ, Yuan HJ, Bai LN, Cao JY, Xu Y, Shen WD, Ji F, Yang WY. Yang SZ, et al. Among authors: yang wy. Zhonghua Yi Xue Za Zhi. 2005 Oct 12;85(38):2686-90. Zhonghua Yi Xue Za Zhi. 2005. PMID: 16324295 Chinese.

2

[Mapping of gene underlying autosomal dominant non-syndromic hearing loss(DFNA)].

Sun HJ, Tao R, Cheng J, Yang SZ, Cao JY, Yu LM, Hong MD, Feng GY, Dai P, Yuan HJ, Han DY, He L. Sun HJ, et al. Among authors: yang sz. Yi Chuan. 2006 Dec;28(12):1489-94. doi: 10.1360/yc-006-1489. Yi Chuan. 2006. PMID: 17138532 Chinese.

3

Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.

Yang SZ, Cao JY, Zhang RN, Liu LX, Liu X, Zhang X, Kang DY, Li M, Han DY, Yuan HJ, Yang WY. Yang SZ, et al. Among authors: yang wy. Chin Med J (Engl). 2007 Jan 5;120(1):46-9. Chin Med J (Engl). 2007. PMID: 17254487

4

Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.

Yuan H, Chen J, Liu X, Cheng J, Wang X, Yang L, Yang S, Cao J, Kang D, Dai P, Zhai S, Han D, Young WY, Guan MX. Yuan H, et al. Biochem Biophys Res Commun. 2007 Oct 12;362(1):94-100. doi: 10.1016/j.bbrc.2007.07.161. Epub 2007 Aug 8. Biochem Biophys Res Commun. 2007. PMID: 17698030

5

[Mutation screening of the COCH gene in familial and sporadic patients with late onset nonsyndromic sensorineural hearing loss among Chinese population].

Sun Q, Yang SZ, Kang DY, Zhang X, Cao JY, Liu X, Dai P, Yuan HJ, Han DY. Sun Q, et al. Among authors: yang sz. Zhonghua Yi Xue Za Zhi. 2007 Nov 27;87(44):3107-10. Zhonghua Yi Xue Za Zhi. 2007. PMID: 18269866 Chinese.

6

[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].

Chen J, Yang SZ, Liu J, Han B, Wang GJ, Zhang X, Kang DY, Dai P, Young WY, Yuan HJ. Chen J, et al. Among authors: yang sz. Yi Chuan. 2008 Apr;30(4):433-8. doi: 10.3724/sp.j.1005.2008.00433. Yi Chuan. 2008. PMID: 18424413 Chinese.

7

Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.

Chen J, Yuan H, Lu J, Liu X, Wang G, Zhu Y, Cheng J, Wang X, Han B, Yang L, Yang S, Yang A, Sun Q, Kang D, Zhang X, Dai P, Zhai S, Han D, Young WY, Guan MX. Chen J, et al. Mitochondrion. 2008 Sep;8(4):285-92. doi: 10.1016/j.mito.2008.05.002. Epub 2008 May 23. Mitochondrion. 2008. PMID: 18639500

8

Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment.

Han B, Cheng J, Yang SZ, Cao JY, Shen WD, Ji F, Kang DY, Zhang X, Dai P, Yuan HJ. Han B, et al. Among authors: yang sz. Chin Med J (Engl). 2009 Apr 5;122(7):830-3. Chin Med J (Engl). 2009. PMID: 19493398

9

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

Yang S, Dai P, Liu X, Kang D, Zhang X, Yang W, Zhou C, Yang S, Yuan H. Yang S, et al. PLoS One. 2013 Oct 23;8(10):e77149. doi: 10.1371/journal.pone.0077149. eCollection 2013. PLoS One. 2013. PMID: 24194866 Free PMC article.

10

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.

Yang S, Wang C, Zhou C, Kang D, Zhang X, Yuan H. Yang S, et al. Mol Genet Genomic Med. 2020 Dec;8(12):e1520. doi: 10.1002/mgg3.1520. Epub 2020 Oct 12. Mol Genet Genomic Med. 2020. PMID: 33045145 Free PMC article.

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