Song SJ - Search Results

1

[The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease].

Song SJ, Song SJ, Yan M, Wang XZ, Zhang YZ, Zou JH, Zhong N. Song SJ, et al. Yi Chuan. 2007 Jul;29(7):800-4. doi: 10.1360/yc-007-0800. Yi Chuan. 2007. PMID: 17646144 Chinese.

2

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.

Song S, Zhang Y, Chen B, Zhang Y, Wang M, Wang Y, Yan M, Zou J, Huang Y, Zhong N. Song S, et al. Genet Med. 2006 Aug;8(8):532-5. doi: 10.1097/01.gim.0000232481.96287.89. Genet Med. 2006. PMID: 16912585 Free article.

3

[Laminopathies--one gene, multiple diseases].

Song SJ, Zhang YZ, Zhong N. Song SJ, et al. Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18;37(1):96-9. Beijing Da Xue Xue Bao Yi Xue Ban. 2005. PMID: 15719053 Free article. Review. Chinese.

4

Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.

Han D, Gong Y, Wu H, Zhang X, Yan M, Wang X, Qu H, Feng H, Song S. Han D, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):536-46. doi: 10.1016/j.ejmg.2008.06.002. Epub 2008 Jul 9. Eur J Med Genet. 2008. PMID: 18657636

5

A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.

Song S, Shen C, Song G, Mao X, Yan G, Wang X, Yan M, Zhong N. Song S, et al. Br J Dermatol. 2008 Sep;159(3):714-9. doi: 10.1111/j.1365-2133.2008.08657.x. Epub 2008 Aug 21. Br J Dermatol. 2008. PMID: 18844868

6

EDA gene mutations underlie non-syndromic oligodontia.

Song S, Han D, Qu H, Gong Y, Wu H, Zhang X, Zhong N, Feng H. Song S, et al. J Dent Res. 2009 Feb;88(2):126-31. doi: 10.1177/0022034508328627. J Dent Res. 2009. PMID: 19278982 Free PMC article.

7

[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease].

Liu X, Fan D, Song S. Liu X, et al. Zhonghua Nei Ke Za Zhi. 2015 Jul;54(7):623-7. Zhonghua Nei Ke Za Zhi. 2015. PMID: 26359026 Chinese.

8

[Three novel splicing mutations at 5' terminal of DMD gene corresponding to different phenotypes].

Wang Z, Lin L, Yuan Y, Song S. Wang Z, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):666-671. doi: 10.3760/cma.j.issn.1003-9406.2019.07.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302907 Chinese.

9

Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.

He H, Han D, Feng H, Qu H, Song S, Bai B, Zhang Z. He H, et al. PLoS One. 2013 Nov 27;8(11):e80393. doi: 10.1371/journal.pone.0080393. eCollection 2013. PLoS One. 2013. PMID: 24312213 Free PMC article.

10

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.

Xiong H, Tan D, Wang S, Song S, Yang H, Gao K, Liu A, Jiao H, Mao B, Ding J, Chang X, Wang J, Wu Y, Yuan Y, Jiang Y, Zhang F, Wu H, Wu X. Xiong H, et al. Clin Genet. 2015 Mar;87(3):233-43. doi: 10.1111/cge.12366. Epub 2014 Mar 31. Clin Genet. 2015. PMID: 24611677

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