Guan MX - Search Results

1

[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].

Ji YC, Liu XL, Zhao FX, Zhang JJ, Zhang Y, Zhou XT, Qu J, Guan MX. Ji YC, et al. Among authors: guan mx. Yi Chuan. 2011 Apr;33(4):322-8. doi: 10.3724/sp.j.1005.2011.00322. Yi Chuan. 2011. PMID: 21482521 Chinese.

2

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Zhao H, et al. Among authors: guan mx. Am J Hum Genet. 2004 Jan;74(1):139-52. doi: 10.1086/381133. Epub 2003 Dec 12. Am J Hum Genet. 2004. PMID: 14681830 Free PMC article.

3

Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss.

Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X, Guan MX. Li R, et al. Among authors: guan mx. Am J Med Genet A. 2004 Jan 15;124A(2):113-7. doi: 10.1002/ajmg.a.20305. Am J Med Genet A. 2004. PMID: 14699607

4

Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.

Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan MX. Li X, et al. Among authors: guan mx. Nucleic Acids Res. 2004 Feb 11;32(3):867-77. doi: 10.1093/nar/gkh226. Print 2004. Nucleic Acids Res. 2004. PMID: 14960712 Free PMC article.

5

Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH Jr, Young WY, Guan MX. Wang Q, et al. Among authors: guan mx. Am J Med Genet A. 2005 Feb 15;133A(1):27-30. doi: 10.1002/ajmg.a.30424. Am J Med Genet A. 2005. PMID: 15637703 Free PMC article.

6

Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.

Li R, Ishikawa K, Deng JH, Heman-Ackah S, Tamagawa Y, Yang L, Bai Y, Ichimura K, Guan MX. Li R, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2005 Mar 4;328(1):32-7. doi: 10.1016/j.bbrc.2004.12.140. Biochem Biophys Res Commun. 2005. PMID: 15670746

7

Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.

Li X, Zhang LS, Fischel-Ghodsian N, Guan MX. Li X, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2005 Mar 11;328(2):491-8. doi: 10.1016/j.bbrc.2005.01.006. Biochem Biophys Res Commun. 2005. PMID: 15694374

8

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.

Qu J, Li R, Tong Y, Hu Y, Zhou X, Qian Y, Lu F, Guan MX. Qu J, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2005 Mar 25;328(4):1139-45. doi: 10.1016/j.bbrc.2005.01.062. Biochem Biophys Res Commun. 2005. PMID: 15707996 Clinical Trial.

9

Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.

Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX. Li Z, et al. Among authors: guan mx. Hum Genet. 2005 Jun;117(1):9-15. doi: 10.1007/s00439-005-1276-1. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841390 Free PMC article.

10

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. Qian Y, et al. Among authors: guan mx. Biochem Biophys Res Commun. 2005 Jul 1;332(2):614-21. doi: 10.1016/j.bbrc.2005.05.003. Biochem Biophys Res Commun. 2005. PMID: 15896721

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