Fan N - Search Results

1

A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.

Cai SP, Fan N, Chen J, Xia ZL, Wang Y, Zhou XM, Yin Y, Wen TL, Xia QJ, Liu XY, Wang HY. Cai SP, et al. Among authors: fan n. Genet Mol Res. 2014 Jul 24;13(3):5395-404. doi: 10.4238/2014.July.24.19. Genet Mol Res. 2014. PMID: 25078596 Free article.

2

A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.

Cao X, Zhou XM, Gan R, Jiang LQ, Lu L, Wang Y, Fan N, Yin Y, Yan NH, Yu WH, Liu XY. Cao X, et al. Among authors: fan n. Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8. Genet Mol Res. 2014. PMID: 25366758 Free article.

3

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.

Yin Y, Liu XH, Li XH, Fan N, Lei DF, Wang Y, Cai SP, Zhou XM, Chen XM, Liu XY. Yin Y, et al. Among authors: fan n. Genet Mol Res. 2015 Apr 27;14(2):4125-32. doi: 10.4238/2015.April.27.27. Genet Mol Res. 2015. PMID: 25966184 Free article.

4

A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta.

Fan N, Jonas JB, He F, Yan NH, Wang Y, Liu L, Liu DL, Zhao L, Pang IH, Liu XY. Fan N, et al. Genet Mol Res. 2015 Nov 30;14(4):15295-300. doi: 10.4238/2015.November.30.5. Genet Mol Res. 2015. PMID: 26634493 Free article.

5

A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.

Cai SP, Muhemaiti P, Yin Y, Cheng H, Di Ya A, Keyimu M, Cao X, Fan N, Jiang L, Yan N, Zhou X, Wang Y, Liu X. Cai SP, et al. Among authors: fan n. Mol Vis. 2012;18:1944-51. Epub 2012 Jul 18. Mol Vis. 2012. PMID: 22876119 Free PMC article.

6

Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma.

Zhou XM, Yin Y, Fan N, Cheng HB, Li XH, Wang Y, Yu WH, Cai SP, Liu XY. Zhou XM, et al. Among authors: fan n. Int J Ophthalmol. 2013 Jun 18;6(3):264-8. doi: 10.3980/j.issn.2222-3959.2013.03.02. Print 2013. Int J Ophthalmol. 2013. PMID: 23826516 Free PMC article.

7

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X. Wang Y, et al. Among authors: fan n. PLoS One. 2015 Apr 28;10(4):e0125651. doi: 10.1371/journal.pone.0125651. eCollection 2015. PLoS One. 2015. PMID: 25919014 Free PMC article.

8

A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome.

Liu DL, Cao JH, Yang J, He F, Wang Y, Fan N, Liu XY. Liu DL, et al. Among authors: fan n. Int J Clin Exp Med. 2015 May 15;8(5):7419-24. eCollection 2015. Int J Clin Exp Med. 2015. PMID: 26221284 Free PMC article.

9

Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.

Zhou XM, Wang Y, Zhao L, Yu WH, Fan N, Yan NH, Su Q, Liang YQ, Wang Y, Li LP, Cai SP, Jonas JB, Liu XY. Zhou XM, et al. Among authors: fan n. Acta Ophthalmol. 2015 Feb;93(1):e91-2. doi: 10.1111/aos.12399. Epub 2014 May 7. Acta Ophthalmol. 2015. PMID: 24802351 Free article. No abstract available.

10

[Lamina cribrosa defect and progress of glaucoma].

Liu XY, Fan N. Liu XY, et al. Among authors: fan n. Zhonghua Yan Ke Za Zhi. 2020 Jan 11;56(1):17-20. doi: 10.3760/cma.j.issn.0412-4081.2020.01.007. Zhonghua Yan Ke Za Zhi. 2020. PMID: 31937059 Chinese.

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