Guan L - Search Results

1

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

Guo Y, Yuan L, Yi J, Xiao J, Xu H, Lv H, Xiong W, Zheng W, Guan L, Zhang J, Xiang H, Qi Y, Deng H. Guo Y, et al. Among authors: guan l. Indian J Biochem Biophys. 2013 Aug;50(4):253-8. Indian J Biochem Biophys. 2013. PMID: 24772942

2

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Chen Y, Zhang Q, Shen T, Xiao X, Li S, Guan L, Zhang J, Zhu Z, Yin Y, Wang P, Guo X, Wang J, Zhang Q. Chen Y, et al. Among authors: guan l. Invest Ophthalmol Vis Sci. 2013 Jun 26;54(6):4351-7. doi: 10.1167/iovs.13-11606. Invest Ophthalmol Vis Sci. 2013. PMID: 23661368

3

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J, Jia X, Sun W, Zhu Z, Gao Y, Yin Y, Wang P, Guo X, Wang J, Zhang Q. Huang L, et al. Among authors: guan l. PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone.0065546. Print 2013. PLoS One. 2013. PMID: 23776498 Free PMC article.

4

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q. Zhao Y, et al. Among authors: guan l. PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013. PLoS One. 2013. PMID: 23936043 Free PMC article.

5

A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.

Zhang J, Guan L, Wen W, Lu Y, Zhu Q, Yuan H, Chen Y, Wang H, Zhang J, Li H. Zhang J, et al. Among authors: guan l. Eur Arch Otorhinolaryngol. 2014 Jun;271(6):1589-94. doi: 10.1007/s00405-013-2788-2. Epub 2013 Oct 23. Eur Arch Otorhinolaryngol. 2014. PMID: 24150548

6

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.

Gao X, Zhu QY, Song YS, Wang GJ, Yuan YY, Xin F, Huang SS, Kang DY, Han MY, Guan LP, Zhang JG, Dai P. Gao X, et al. J Transl Med. 2013 Nov 9;11:284. doi: 10.1186/1479-5876-11-284. J Transl Med. 2013. PMID: 24206587 Free PMC article.

7

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

Li S, Guan L, Fang S, Jiang H, Xiao X, Yang J, Wang P, Yin Y, Guo X, Wang J, Zhang J, Zhang Q. Li S, et al. Among authors: guan l. Int J Mol Med. 2014 Aug;34(2):573-7. doi: 10.3892/ijmm.2014.1797. Epub 2014 Jun 6. Int J Mol Med. 2014. PMID: 24913019

8

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q. Xu Y, et al. Among authors: guan l. Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18. Hum Genet. 2014. PMID: 24938718

9

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

Xiu X, Yuan J, Deng X, Xiao J, Xu H, Zeng Z, Guan L, Xu F, Deng S. Xiu X, et al. Among authors: guan l. Biomed Res Int. 2014;2014:186048. doi: 10.1155/2014/186048. Epub 2014 Jul 6. Biomed Res Int. 2014. PMID: 25110662 Free PMC article.

10

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y. Wang H, et al. Among authors: guan l. Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168385

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