Xiao J - Search Results

1

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. Among authors: xiao j. 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

2

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: xiao j. Optom Vis Sci. 2015 Mar;92(3):337-42. doi: 10.1097/OPX.0000000000000518. Optom Vis Sci. 2015. PMID: 25635993

3

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: xiao j. PLoS One. 2016 May 19;11(5):e0155908. doi: 10.1371/journal.pone.0155908. eCollection 2016. PLoS One. 2016. PMID: 27196565 Free PMC article.

4

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.

Deng S, Xu H, Yuan J, Xiao J, Yuan L, Deng X, Guan L, Zhu A, Rong P, Zhang J, Deng H. Deng S, et al. Among authors: xiao j. Indian J Med Res. 2016 Aug;144(2):200-205. doi: 10.4103/0971-5916.195026. Indian J Med Res. 2016. PMID: 27934798 Free PMC article.

5

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: xiao j. 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

6

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

Xiu X, Yuan J, Deng X, Xiao J, Xu H, Zeng Z, Guan L, Xu F, Deng S. Xiu X, et al. Among authors: xiao j. Biomed Res Int. 2014;2014:186048. doi: 10.1155/2014/186048. Epub 2014 Jul 6. Biomed Res Int. 2014. PMID: 25110662 Free PMC article.

7

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

Zheng W, Zhang J, Deng X, Xiao J, Yuan L, Yang Y, Guan L, Song Z, Yang Z, Deng H. Zheng W, et al. Among authors: xiao j. Mol Neurobiol. 2016 Mar;53(2):835-841. doi: 10.1007/s12035-014-9047-4. Epub 2014 Dec 15. Mol Neurobiol. 2016. PMID: 25502464

8

Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.

Deng S, Deng X, Song Z, Xiu X, Guo Y, Xiao J, Deng H. Deng S, et al. Among authors: xiao j. Mol Neurobiol. 2016 Sep;53(7):5025-9. doi: 10.1007/s12035-015-9426-5. Epub 2015 Sep 16. Mol Neurobiol. 2016. PMID: 26377108

9

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

10

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.

Yuan L, Wu S, Xu H, Xiao J, Yang Z, Xia H, Liu A, Hu P, Lu A, Chen Y, Xu F, Deng H. Yuan L, et al. Among authors: xiao j. Biol Chem. 2015 Jan;396(1):27-33. doi: 10.1515/hsz-2014-0187. Biol Chem. 2015. PMID: 25060345

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