Gong Y - Search Results

1

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

Li H, Chen Q, Liu F, Zhang X, Liu T, Li W, Liu S, Zhao Y, Wen B, Dai T, Lin P, Gong Y, Yan C. Li H, et al. Among authors: gong y. J Hum Genet. 2011 Apr;56(4):335-8. doi: 10.1038/jhg.2011.15. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307865

2

Lack of association between ADAM33 gene and asthma in a Chinese population.

Wang P, Liu QJ, Li JS, Li HC, Wei CH, Guo CH, Gong YQ. Wang P, et al. Among authors: gong yq. Int J Immunogenet. 2006 Aug;33(4):303-6. doi: 10.1111/j.1744-313X.2006.00617.x. Int J Immunogenet. 2006. PMID: 16893396

3

Absence of association between two insertion/deletion coding genetic polymorphisms of TIM-1 gene and asthma in Chinese Han population.

Li JS, Liu QJ, Wang P, Li HC, Wei CH, Guo CH, Gong YQ. Li JS, et al. Among authors: gong yq. Int J Immunogenet. 2006 Dec;33(6):417-22. doi: 10.1111/j.1744-313X.2006.00634.x. Int J Immunogenet. 2006. PMID: 17117951

4

Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

Zou Y, Liu Q, Chen B, Zhang X, Guo C, Zhou H, Li J, Gao G, Guo Y, Yan C, Wei J, Shao C, Gong Y. Zou Y, et al. Among authors: gong y. Am J Hum Genet. 2007 Mar;80(3):561-6. doi: 10.1086/512489. Epub 2007 Jan 25. Am J Hum Genet. 2007. PMID: 17273978 Free PMC article.

5

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y. Lin P, et al. Among authors: gong y. Am J Hum Genet. 2008 Dec;83(6):752-9. doi: 10.1016/j.ajhg.2008.11.003. Am J Hum Genet. 2008. PMID: 19061983 Free PMC article.

6

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.

Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y. Lin P, et al. Among authors: gong y. Prenat Diagn. 2010 May;30(5):485-6. doi: 10.1002/pd.2485. Prenat Diagn. 2010. PMID: 20306460 No abstract available.

7

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.

Lin P, Mao F, Liu Q, Yang W, Shao C, Yan C, Gong Y. Lin P, et al. Among authors: gong y. Muscle Nerve. 2010 Dec;42(6):922-6. doi: 10.1002/mus.21790. Muscle Nerve. 2010. PMID: 21104867

8

[Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis].

Jin H, Lin PF, Wang QM, Mao F, Cai Y, Gong YQ. Jin H, et al. Among authors: gong yq. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):601-5. doi: 10.3760/cma.j.issn.1003-9406.2011.06.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 22161087 Chinese.

9

Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma.

Wang X, Li L, Li J, Sun J, Heng X, Gong Y, Liu Q. Wang X, et al. Among authors: gong y. Genet Test Mol Biomarkers. 2012 Jul;16(7):827-32. doi: 10.1089/gtmb.2011.0276. Genet Test Mol Biomarkers. 2012. PMID: 22799611 Free PMC article. Clinical Trial.

10

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

Lin P, Li W, Wen B, Zhao Y, Fenster DS, Wang Y, Gong Y, Yan C. Lin P, et al. Among authors: gong y. J Hum Genet. 2012 Oct;57(10):679-81. doi: 10.1038/jhg.2012.84. Epub 2012 Jul 26. J Hum Genet. 2012. PMID: 22832386

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