Wang L - Search Results

1

T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.

Zhang S, Wang L, Hao Y, Wang P, Hao P, Yin K, Wang QK, Liu M. Zhang S, et al. Among authors: wang l, wang p, wang qk. Mitochondrion. 2008 Jun;8(3):205-10. doi: 10.1016/j.mito.2008.02.003. Epub 2008 Mar 6. Mitochondrion. 2008. PMID: 18440284

2

Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family.

Zhang S, Liu M, Dong JM, Yin K, Wang P, Bu J, Li J, Hao YS, Hao P, Wang QK, Wang L. Zhang S, et al. Among authors: wang l, wang p, wang qk. Mol Vis. 2008;14:1893-7. Epub 2008 Oct 22. Mol Vis. 2008. PMID: 18958302 Free PMC article.

3

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK. Liu JY, et al. Among authors: wang l, wang qk. J Hum Genet. 2007;52(6):565-570. doi: 10.1007/s10038-007-0152-3. Epub 2007 May 22. J Hum Genet. 2007. PMID: 17516023

4

Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.

Wang L, Ribaudo M, Zhao K, Yu N, Chen Q, Sun Q, Wang L, Wang Q. Wang L, et al. Among authors: wang q. Am J Med Genet A. 2003 Sep 1;121A(3):235-9. doi: 10.1002/ajmg.a.20224. Am J Med Genet A. 2003. PMID: 12923864 Free PMC article.

5

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.

Li Y, Jiang L, Wang L, Wang C, Liu C, Guo A, Liu M, Zhang L, Ma C, Zhang X, Gao S, Liu JY. Li Y, et al. Among authors: wang l, wang c. Front Cell Dev Biol. 2020 Nov 4;8:591781. doi: 10.3389/fcell.2020.591781. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33251218 Free PMC article.

6

[A novel rhodopsin E341ter mutation in patients with retinitis pigmentosa and corresponding clinical phenotype].

Xiong S, Zhao K, Wang L, Wang L, Cui Y, Chen W, Wang L, Wang Q. Xiong S, et al. Among authors: wang l, wang q. Zhonghua Yan Ke Za Zhi. 2002 Apr;38(4):224-7. Zhonghua Yan Ke Za Zhi. 2002. PMID: 12133392 Chinese.

7

Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.

Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q, Wang QK. Zhang X, et al. Among authors: wang l, wang qk. Cell. 2008 Dec 12;135(6):1017-27. doi: 10.1016/j.cell.2008.10.022. Cell. 2008. PMID: 19070573 Free article.

8

Genome-wide linkage scan identifies a novel genetic locus on chromosome 5p13 for neonatal atrial fibrillation associated with sudden death and variable cardiomyopathy.

Oberti C, Wang L, Li L, Dong J, Rao S, Du W, Wang Q. Oberti C, et al. Among authors: wang l, wang q. Circulation. 2004 Dec 21;110(25):3753-9. doi: 10.1161/01.CIR.0000150333.87176.C7. Epub 2004 Dec 13. Circulation. 2004. PMID: 15596564 Free PMC article.

9

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.

Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, Lüders HO, Shi J, Cui J, Richerson GB, Wang QK. Du W, et al. Among authors: wang l, wang qk. Nat Genet. 2005 Jul;37(7):733-8. doi: 10.1038/ng1585. Epub 2005 Jun 5. Nat Genet. 2005. PMID: 15937479

10

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.

Liu X, Wu Y, Miao Z, Zhang H, Gong B, Zhu X, Huang L, Shi Y, Hao F, Ma S, Lin H, Wang L, Yang Z. Liu X, et al. Among authors: wang l. Ophthalmic Genet. 2018 Aug;39(4):428-436. doi: 10.1080/13816810.2018.1466336. Epub 2018 Jun 14. Ophthalmic Genet. 2018. PMID: 29902091

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