Zhao L - Search Results

1

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R. Xu M, et al. Among authors: zhao l. Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28. Hum Genet. 2015. PMID: 26216056 Free PMC article.

2

[Construction of recombinant NF-κB reporter adenovirus and activity analysis].

Guo JH, Wang F, Wang PZ, Zhao L, Shi TP, Chen YY. Guo JH, et al. Among authors: zhao l. Beijing Da Xue Xue Bao Yi Xue Ban. 2012 Dec 18;44(6):954-9. Beijing Da Xue Xue Bao Yi Xue Ban. 2012. PMID: 23247466 Free article. Chinese.

3

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, Ren H, Keser V, Lopez I, Tuan HF, Salvo JS, Wang X, Zhao L, Wang K, Li Y, Koenekoop RK, Chen R, Sui R. Fu Q, et al. Among authors: zhao l. Invest Ophthalmol Vis Sci. 2013 Jun 14;54(6):4158-66. doi: 10.1167/iovs.13-11672. Invest Ophthalmol Vis Sci. 2013. PMID: 23661369 Free PMC article.

4

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.

Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, Xu M, Li Y, Wu F, Wen C, Bernstein PS, Lin D, Zhu S, Wang H, Zhang K, Chen R. Wang F, et al. Among authors: zhao l. Invest Ophthalmol Vis Sci. 2014 Oct 14;55(11):7159-64. doi: 10.1167/iovs.14-15520. Invest Ophthalmol Vis Sci. 2014. PMID: 25316723 Free PMC article.

5

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L, Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, Earle P, Simpson D, Silvestri G, Chen R. Zhao L, et al. Hum Genet. 2015 Feb;134(2):217-30. doi: 10.1007/s00439-014-1512-7. Epub 2014 Dec 4. Hum Genet. 2015. PMID: 25472526 Free PMC article. Clinical Trial.

6

A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.

Wang F, Li H, Xu M, Li H, Zhao L, Yang L, Zaneveld JE, Wang K, Li Y, Sui R, Chen R. Wang F, et al. Among authors: zhao l. Invest Ophthalmol Vis Sci. 2014 Dec 4;56(1):150-5. doi: 10.1167/iovs.14-15382. Invest Ophthalmol Vis Sci. 2014. PMID: 25477324 Free PMC article.

7

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, Ge Z, Wang H, Li Y, Hartnett ME, Chen R. Xu M, et al. Among authors: zhao l. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3889-95. doi: 10.1167/iovs.15-16778. Invest Ophthalmol Vis Sci. 2015. PMID: 26070061 Free PMC article.

8

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LJ, Lewis RA, Chen R. Xu M, et al. Among authors: zhao l. Hum Mutat. 2016 Mar;37(3):246-9. doi: 10.1002/humu.22940. Epub 2016 Jan 6. Hum Mutat. 2016. PMID: 26662040 Free PMC article.

9

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Soens ZT, et al. Among authors: zhao l. Genet Med. 2016 Oct;18(10):1044-51. doi: 10.1038/gim.2015.205. Epub 2016 Jan 28. Genet Med. 2016. PMID: 26820066 Free PMC article.

10

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Xu M, et al. Among authors: zhao l. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28. Hum Mol Genet. 2016. PMID: 26908613 Free PMC article.

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