Li L - Search Results

1

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Li L, et al. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30157172 Free PMC article.

2

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.

Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF. Li L, et al. Am J Hum Genet. 2010 Sep 10;87(3):400-9. doi: 10.1016/j.ajhg.2010.08.003. Am J Hum Genet. 2010. PMID: 20797688 Free PMC article.

3

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.

Li D, Jin C, Jiao X, Li L, Bushra T, Naeem MA, Butt NH, Husnain T, Sieving PA, Riazuddin S, Riazuddin SA, Hejtmancik JF. Li D, et al. Among authors: li l. Mol Vis. 2014 Jan 6;20:1-14. eCollection 2014. Mol Vis. 2014. PMID: 24426771 Free PMC article.

4

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF. Li L, et al. Among authors: li j. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424. Invest Ophthalmol Vis Sci. 2017. PMID: 28418496 Free PMC article.

5

A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.

Naz S, Riazuddin SA, Li L, Shahid M, Kousar S, Sieving PA, Hejtmancik JF, Riazuddin S. Naz S, et al. Among authors: li l. Am J Ophthalmol. 2010 May;149(5):861-6. doi: 10.1016/j.ajo.2009.12.034. Epub 2010 Mar 15. Am J Ophthalmol. 2010. PMID: 20227676 Free PMC article.

6

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.

Li L, Xiao X, Yi C, Jiao X, Guo X, Hejtmancik JF, Zhang Q. Li L, et al. J Hum Genet. 2012 Dec;57(12):756-9. doi: 10.1038/jhg.2012.103. Epub 2012 Aug 23. J Hum Genet. 2012. PMID: 22914672

7

Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.

Li L, Xiao X, Li S, Jiao X, Hejtmancik JF, Zhang Q. Li L, et al. Among authors: li s. Mol Vis. 2011;17:3326-32. Epub 2011 Dec 16. Mol Vis. 2011. PMID: 22219627 Free PMC article.

8

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L, Xiao X, Li S, Jia X, Wang P, Guo X, Jiao X, Zhang Q, Hejtmancik JF. Li L, et al. Among authors: li s. PLoS One. 2011;6(5):e19458. doi: 10.1371/journal.pone.0019458. Epub 2011 May 13. PLoS One. 2011. PMID: 21602930 Free PMC article.

9

Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI. Li S, et al. Among authors: li l. Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10. Mol Genet Genomics. 2018. PMID: 29322253 Free PMC article.

10

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.

Fan W, Wang B, He S, Zhang T, Yin C, Chen Y, Zheng S, Zhang J, Li L. Fan W, et al. Among authors: li l. PLoS One. 2016 Dec 28;11(12):e0168484. doi: 10.1371/journal.pone.0168484. eCollection 2016. PLoS One. 2016. PMID: 28030592 Free PMC article.

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