Zhao C - Search Results

1

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, Yang Z, Sui R, Zhu X. Zhang L, et al. Among authors: zhao c, zhao p. Hum Mol Genet. 2018 Dec 1;27(23):4157-4168. doi: 10.1093/hmg/ddy281. Hum Mol Genet. 2018. PMID: 30085091 Free PMC article.

2

A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1.

Zhao C, Lu S, Zhou X, Zhang X, Zhao K, Larsson C. Zhao C, et al. Among authors: zhao k. Hum Genet. 2006 Jul;119(6):617-23. doi: 10.1007/s00439-006-0168-3. Epub 2006 Apr 13. Hum Genet. 2006. PMID: 16612614

3

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C. Zhao C, et al. Among authors: zhao k, zhao f. Am J Hum Genet. 2009 Nov;85(5):617-27. doi: 10.1016/j.ajhg.2009.09.020. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878916 Free PMC article.

4

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Among authors: zhao k, zhao c. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967. Invest Ophthalmol Vis Sci. 2013. PMID: 23462753

5

[The development and importance of molecular diagnosis in hereditary retinal diseases].

Chen X, Zhao KX, Zhao C. Chen X, et al. Among authors: zhao c, zhao kx. Zhonghua Yan Ke Za Zhi. 2013 Jun;49(6):484-7. Zhonghua Yan Ke Za Zhi. 2013. PMID: 24119959 Chinese.

6

PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Chen X, Rong W, Liu Y, Liu X, Pan X, Chen LJ, Zhao Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Among authors: zhao k, zhao c, zhao q. Hum Mol Genet. 2014 Jun 1;23(11):2926-39. doi: 10.1093/hmg/ddu005. Epub 2014 Jan 12. Hum Mol Genet. 2014. PMID: 24419317

7

Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

Liu G, Chen X, Sun X, Liu H, Zhao K, Chang Q, Pan X, Wang X, Yuan S, Liu Q, Zhao C. Liu G, et al. Among authors: zhao k, zhao c. Mol Vis. 2014 Jan 6;20:15-23. eCollection 2014. Mol Vis. 2014. PMID: 24426772 Free PMC article.

8

[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].

Chen X, Gao X, Zhao KX, Pan XY, Zhang XM, Wang XY, Yuan ST, Liu QH, Zhao C. Chen X, et al. Among authors: zhao c, zhao kx. Zhonghua Yan Ke Za Zhi. 2013 Dec;49(12):1104-10. Zhonghua Yan Ke Za Zhi. 2013. PMID: 24499697 Chinese.

9

Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S, Liu W, Kang X, Sheng X, Zhao C. Rong W, et al. Among authors: zhao k, zhao c. PLoS One. 2014 May 15;9(5):e97808. doi: 10.1371/journal.pone.0097808. eCollection 2014. PLoS One. 2014. PMID: 24831256 Free PMC article.

10

Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.

Pan X, Chen X, Liu X, Gao X, Kang X, Xu Q, Chen X, Zhao K, Zhang X, Chu Q, Wang X, Zhao C. Pan X, et al. Among authors: zhao k, zhao c. Mol Vis. 2014 Jun 2;20:770-9. eCollection 2014. Mol Vis. 2014. PMID: 24940031 Free PMC article.

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