Pan XY - Search Results

1

[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].

Chen X, Gao X, Zhao KX, Pan XY, Zhang XM, Wang XY, Yuan ST, Liu QH, Zhao C. Chen X, et al. Among authors: pan xy. Zhonghua Yan Ke Za Zhi. 2013 Dec;49(12):1104-10. Zhonghua Yan Ke Za Zhi. 2013. PMID: 24499697 Chinese.

2

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967. Invest Ophthalmol Vis Sci. 2013. PMID: 23462753

3

PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Chen X, Rong W, Liu Y, Liu X, Pan X, Chen LJ, Zhao Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Hum Mol Genet. 2014 Jun 1;23(11):2926-39. doi: 10.1093/hmg/ddu005. Epub 2014 Jan 12. Hum Mol Genet. 2014. PMID: 24419317

4

Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.

Pan X, Chen X, Liu X, Gao X, Kang X, Xu Q, Chen X, Zhao K, Zhang X, Chu Q, Wang X, Zhao C. Pan X, et al. Mol Vis. 2014 Jun 2;20:770-9. eCollection 2014. Mol Vis. 2014. PMID: 24940031 Free PMC article.

5

Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

Liu X, Xiao J, Huang H, Guan L, Zhao K, Xu Q, Zhang X, Pan X, Gu S, Chen Y, Zhang J, Shen Y, Jiang H, Gao X, Kang X, Sheng X, Chen X, Zhao C. Liu X, et al. JAMA Ophthalmol. 2015 Apr;133(4):427-36. doi: 10.1001/jamaophthalmol.2014.5831. JAMA Ophthalmol. 2015. PMID: 25611614

6

Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

Liu G, Chen X, Sun X, Liu H, Zhao K, Chang Q, Pan X, Wang X, Yuan S, Liu Q, Zhao C. Liu G, et al. Mol Vis. 2014 Jan 6;20:15-23. eCollection 2014. Mol Vis. 2014. PMID: 24426772 Free PMC article.

7

A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes.

Wang D, Pan X, Ji J, Gu S, Sun X, Jiang C, Xia W, Qiu Z, Kang X, Ding S, Liu Q, Chen X, Lu F, Zhao C. Wang D, et al. Sci Rep. 2017 Aug 10;7(1):7799. doi: 10.1038/s41598-017-07730-7. Sci Rep. 2017. PMID: 28798362 Free PMC article.

8

Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.

Zhao F, Pan X, Zhao K, Zhao C. Zhao F, et al. Mol Vis. 2013 Apr 5;19:751-8. Print 2013. Mol Vis. 2013. PMID: 23592911 Free PMC article.

9

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

Chen X, Sheng X, Zhuang W, Sun X, Liu G, Shi X, Huang G, Mei Y, Li Y, Pan X, Liu Y, Li Z, Zhao Q, Yan B, Zhao C. Chen X, et al. Genet Med. 2017 Aug;19(8):945-954. doi: 10.1038/gim.2016.217. Epub 2017 Jan 26. Genet Med. 2017. PMID: 28125083 Free PMC article.

10

Sugary beverages intake and risk of chronic kidney disease: the mediating role of metabolic syndrome.

Dai XY, Chen XY, Jia LN, Jing XT, Pan XY, Zhang XY, Jing Z, Yuan JQ, He QS, Yang LL. Dai XY, et al. Among authors: pan xy. Front Nutr. 2024 Nov 26;11:1401081. doi: 10.3389/fnut.2024.1401081. eCollection 2024. Front Nutr. 2024. PMID: 39659908 Free PMC article.

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