Yi J - Search Results

1

Identification of a novel GJA3 mutation in congenital nuclear cataract.

Yuan L, Guo Y, Yi J, Xiao J, Yuan J, Xiong W, Xu H, Yang Z, Zhang J, Deng H. Yuan L, et al. Among authors: yi j. Optom Vis Sci. 2015 Mar;92(3):337-42. doi: 10.1097/OPX.0000000000000518. Optom Vis Sci. 2015. PMID: 25635993

2

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

Lu Q, Yuan L, Xu H, Huang X, Yang Z, Yi J, Ni B, Chen Y, Deng H. Lu Q, et al. Among authors: yi j. Mol Med Rep. 2017 Mar;15(3):1426-1430. doi: 10.3892/mmr.2017.6137. Epub 2017 Jan 23. Mol Med Rep. 2017. PMID: 28112372

3

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.

Xia H, Hu P, Yuan L, Xiong W, Xu H, Yi J, Yang Z, Deng X, Guo Y, Deng H. Xia H, et al. Among authors: yi j. Mol Med Rep. 2017 Oct;16(4):4241-4246. doi: 10.3892/mmr.2017.7053. Epub 2017 Jul 21. Mol Med Rep. 2017. PMID: 28731162

4

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.

Lu Q, Guo Y, Yi J, Deng X, Yang Z, Yuan X, Deng H. Lu Q, et al. Among authors: yi j. Optom Vis Sci. 2017 Dec;94(12):1090-1094. doi: 10.1097/OPX.0000000000001147. Optom Vis Sci. 2017. PMID: 29116953

5

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.

Xiao H, Guo Y, Yi J, Xia H, Xu H, Yuan L, Hu P, Yang Z, He Z, Lu H, Deng H. Xiao H, et al. Among authors: yi j. Cell Physiol Biochem. 2018;46(5):1919-1929. doi: 10.1159/000489381. Epub 2018 Apr 26. Cell Physiol Biochem. 2018. PMID: 29719290 Free article.

6

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.

Wu Y, Guo Y, Yi J, Xu H, Yuan L, Yang Z, Deng H. Wu Y, et al. Among authors: yi j. Biosci Rep. 2019 Jul 12;39(7):BSR20182198. doi: 10.1042/BSR20182198. Print 2019 Jul 31. Biosci Rep. 2019. PMID: 31239368 Free PMC article.

7

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: yi j. Indian J Biochem Biophys. 2013 Aug;50(4):253-8. Indian J Biochem Biophys. 2013. PMID: 24772942

8

Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

Huang X, Yuan L, Xu H, Zheng W, Cao Y, Yi J, Guo Y, Yang Z, Li Y, Deng H. Huang X, et al. Among authors: yi j. Biosci Rep. 2018 Apr 27;38(2):BSR20171300. doi: 10.1042/BSR20171300. Biosci Rep. 2018. PMID: 29437900 Free PMC article.

9

Heterogeneous phenotype in a family with the FERM domain-containing 7 gene R335X mutation.

Guo Y, Song Z, Xu H, Yi J, Zheng W, Xiang H, Deng X, Lv H, Gao K, Qi Y, Deng H. Guo Y, et al. Among authors: yi j. Can J Ophthalmol. 2014 Feb;49(1):50-3. doi: 10.1016/j.jcjo.2013.09.001. Can J Ophthalmol. 2014. PMID: 24513357

10

Novel RS1 mutations associated with X-linked juvenile retinoschisis.

Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, Zhang Q. Yi J, et al. Int J Mol Med. 2012 Apr;29(4):644-8. doi: 10.3892/ijmm.2012.882. Epub 2012 Jan 10. Int J Mol Med. 2012. PMID: 22245991 Free PMC article.

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