Guo Y - 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: guo y. Optom Vis Sci. 2015 Mar;92(3):337-42. doi: 10.1097/OPX.0000000000000518. Optom Vis Sci. 2015. PMID: 25635993

2

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

Guo Y, Yuan J, Liang H, Xiao J, Xu H, Yuan L, Gao K, Wu B, Tang Y, Li X, Deng H. Guo Y, et al. Mol Biol Rep. 2014 Jun;41(6):3631-5. doi: 10.1007/s11033-014-3227-1. Epub 2014 Feb 13. Mol Biol Rep. 2014. PMID: 24522658

3

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

4

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H. Xia H, et al. Among authors: guo y. PLoS One. 2015 Aug 26;10(8):e0136306. doi: 10.1371/journal.pone.0136306. eCollection 2015. PLoS One. 2015. PMID: 26308726 Free PMC article.

5

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

Deng H, Lu Q, Xu H, Deng X, Yuan L, Yang Z, Guo Y, Lin Q, Xiao J, Guan L, Song Z. Deng H, et al. Among authors: guo y. PLoS One. 2016 May 19;11(5):e0155908. doi: 10.1371/journal.pone.0155908. eCollection 2016. PLoS One. 2016. PMID: 27196565 Free PMC article.

6

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

Deng H, He D, Rong P, Xu H, Yuan L, Li L, Lu Q, Guo Y. Deng H, et al. Among authors: guo y. Mol Pain. 2016 Jun 20;12:1744806916652628. doi: 10.1177/1744806916652628. Print 2016. Mol Pain. 2016. PMID: 27325559 Free PMC article.

7

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Deng H, Tan T, He Q, Lin Q, Yang Z, Zhu A, Guan L, Xiao J, Song Z, Guo Y. Deng H, et al. Among authors: guo y. Mol Med Rep. 2017 Jul;16(1):473-477. doi: 10.3892/mmr.2017.6576. Epub 2017 May 11. Mol Med Rep. 2017. PMID: 28498426

8

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: guo y. 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

9

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: guo y. Optom Vis Sci. 2017 Dec;94(12):1090-1094. doi: 10.1097/OPX.0000000000001147. Optom Vis Sci. 2017. PMID: 29116953

10

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: guo y. Cell Physiol Biochem. 2018;46(5):1919-1929. doi: 10.1159/000489381. Epub 2018 Apr 26. Cell Physiol Biochem. 2018. PMID: 29719290 Free article.

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