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Items: 1 to 20 of 467

1.

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.

Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX.

Invest Ophthalmol Vis Sci. 2014 Mar 6;55(3):1321-31. doi: 10.1167/iovs.13-13011.

PMID:
24398099
2.

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.

Jiang P, Liang M, Zhang J, Gao Y, He Z, Yu H, Zhao F, Ji Y, Liu X, Zhang M, Fu Q, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan MX.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4778-88. doi: 10.1167/iovs.14-16158.

PMID:
26218905
3.

Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.

Ji Y, Liang M, Zhang J, Zhu L, Zhang Z, Fu R, Liu X, Zhang M, Fu Q, Zhao F, Tong Y, Sun Y, Jiang P, Guan MX.

Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2377-89. doi: 10.1167/iovs.16-19243.

PMID:
27177320
4.

Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.

Zhou X, Qian Y, Zhang J, Tong Y, Jiang P, Liang M, Dai X, Zhou H, Zhao F, Ji Y, Mo JQ, Qu J, Guan MX.

Invest Ophthalmol Vis Sci. 2012 Jul 9;53(8):4586-94. doi: 10.1167/iovs.11-9109.

5.

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.

Wei QP, Zhou X, Yang L, Sun YH, Zhou J, Li G, Jiang R, Lu F, Qu J, Guan MX.

Biochem Biophys Res Commun. 2007 Jun 15;357(4):910-6. Epub 2007 Apr 16.

PMID:
17452034
6.

T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.

Zhang S, Wang L, Hao Y, Wang P, Hao P, Yin K, Wang QK, Liu M.

Mitochondrion. 2008 Jun;8(3):205-10. doi: 10.1016/j.mito.2008.02.003. Epub 2008 Mar 6.

PMID:
18440284
7.

Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.

Qu J, Zhou X, Zhao F, Liu X, Zhang M, Sun YH, Liang M, Yuan M, Liu Q, Tong Y, Wei QP, Yang L, Guan MX.

Biochim Biophys Acta. 2010 Mar;1800(3):305-12. doi: 10.1016/j.bbagen.2009.08.010. Epub 2009 Sep 3.

8.

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.

Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX.

Biochem Biophys Res Commun. 2005 Jul 1;332(2):614-21.

PMID:
15896721
9.

Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.

Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, Sun Y, Lu F, Qu J, Guan MX.

Biochem Biophys Res Commun. 2006 Feb 3;340(1):69-75. Epub 2005 Dec 6.

PMID:
16364244
10.

[The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation].

Meng X, Zhu J, Gao M, Zhang S, Zhao F, Zhang J, Liu X, Wei Q, Tong Y, Zhang M, Qu J, Guan M.

Yi Chuan. 2014 Apr;36(4):336-45. Chinese.

PMID:
24846978
11.

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.

Zhang J, Zhao F, Fu Q, Liang M, Tong Y, Liu X, Lin B, Mi H, Zhang M, Wei QP, Xue L, Jiang P, Zhou X, Mo JQ, Huang T, Qu J, Guan MX.

Mitochondrion. 2013 Nov;13(6):772-81. doi: 10.1016/j.mito.2013.05.002. Epub 2013 May 9.

PMID:
23665487
12.

Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

Zhou X, Zhang H, Zhao F, Ji Y, Tong Y, Zhang J, Zhang Y, Yang L, Qian Y, Lu F, Qu J, Guan MX.

Mol Genet Metab. 2010 Aug;100(4):379-84. doi: 10.1016/j.ymgme.2010.04.013. Epub 2010 Apr 29.

13.

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N.

Brain. 2001 Jan;124(Pt 1):209-18.

PMID:
11133798
14.

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.

Ji Y, Liang M, Zhang J, Zhang M, Zhu J, Meng X, Zhang S, Gao M, Zhao F, Wei QP, Jiang P, Tong Y, Liu X, Qin Mo J, Guan MX.

J Hum Genet. 2014 Mar;59(3):134-40. doi: 10.1038/jhg.2013.134. Epub 2014 Jan 16.

PMID:
24430572
15.

Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.

Qu J, Zhou X, Zhang J, Zhao F, Sun YH, Tong Y, Wei QP, Cai W, Yang L, West CE, Guan MX.

Ophthalmology. 2009 Mar;116(3):558-564.e3. doi: 10.1016/j.ophtha.2008.10.022. Epub 2009 Jan 22.

16.

Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.

Qu J, Wang Y, Tong Y, Zhou X, Zhao F, Yang L, Zhang S, Zhang J, West CE, Guan MX.

Invest Ophthalmol Vis Sci. 2010 Oct;51(10):4906-12. doi: 10.1167/iovs.09-5027. Epub 2010 Apr 30.

17.

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.

Zhang J, Zhou X, Zhou J, Li C, Zhao F, Wang Y, Meng Y, Wang J, Yuan M, Cai W, Tong Y, Sun YH, Yang L, Qu J, Guan MX.

Biochem Biophys Res Commun. 2010 Sep 3;399(4):647-53. doi: 10.1016/j.bbrc.2010.07.135. Epub 2010 Aug 4.

PMID:
20691156
18.

Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

Zhang J, Jiang P, Jin X, Liu X, Zhang M, Xie S, Gao M, Zhang S, Sun YH, Zhu J, Ji Y, Wei QP, Tong Y, Guan MX.

Mitochondrion. 2014 Sep;18:18-26. doi: 10.1016/j.mito.2014.08.008. Epub 2014 Sep 4.

PMID:
25194554
19.

Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.

Sun YH, Wei QP, Zhou X, Qian Y, Zhou J, Lu F, Qu J, Guan MX.

Biochem Biophys Res Commun. 2006 Aug 18;347(1):221-5. Epub 2006 Jun 21.

PMID:
16806060
20.

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Jiang P, Liang M, Zhang C, Zhao X, He Q, Cui L, Liu X, Sun YH, Fu Q, Ji Y, Bai Y, Huang T, Guan MX.

Hum Mol Genet. 2016 Aug 15;25(16):3613-3625. doi: 10.1093/hmg/ddw199. Epub 2016 Jul 17.

PMID:
27427386

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