Liu Q - Search Results

1

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

Liu H, Li Y, Hung KK, Wang N, Wang C, Chen X, Sheng D, Fu X, See K, Foo JN, Low H, Liany H, Irwan ID, Liu J, Yang B, Chen M, Yu Y, Yu G, Niu G, You J, Zhou Y, Ma S, Wang T, Yan X, Goh BK, Common JE, Lane BE, Sun Y, Zhou G, Lu X, Wang Z, Tian H, Cao Y, Chen S, Liu Q, Liu J, Zhang F. Liu H, et al. Among authors: liu j, liu q. PLoS One. 2014 Feb 3;9(2):e87250. doi: 10.1371/journal.pone.0087250. eCollection 2014. PLoS One. 2014. PMID: 24498303 Free PMC article.

2

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: liu q. 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.

3

Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.

Bian X, Lin P, Li J, Long F, Duan R, Yuan Q, Li Y, Gao F, Gao S, Wei S, Li X, Sun W, Gong Y, Yan C, Liu Q. Bian X, et al. Among authors: liu q. Neurodegener Dis. 2018;18(2-3):74-83. doi: 10.1159/000487754. Epub 2018 Mar 27. Neurodegener Dis. 2018. PMID: 29587262

4

Circulating Tfr/Tfh cell imbalance may contribute to the immunopathogenesis of pemphigus.

Wang C, Zhang H, Liu T, Wang Z, Zhang Y, Yu G, Wang N, Liu Q, Liu H, Zhang F. Wang C, et al. Among authors: liu h, liu q, liu t. J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1399-e1402. doi: 10.1111/jdv.19338. Epub 2023 Aug 14. J Eur Acad Dermatol Venereol. 2023. PMID: 37458515 No abstract available.

5

IL23R G149R Promotes IL-23 Unresponsiveness in Human Memory Th17 Cells.

Wang C, Wang Z, Liu T, Mi Z, Li W, Zhang Y, Wang N, Xue F, Liu Q, Liu H, Zhang F. Wang C, et al. Among authors: liu h, liu q, liu t. J Invest Dermatol. 2024 Oct;144(10):2317-2320.e2. doi: 10.1016/j.jid.2024.02.032. Epub 2024 Mar 26. J Invest Dermatol. 2024. PMID: 38548259 No abstract available.

6

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y. Lu Y, et al. Among authors: liu q. Am J Med Genet A. 2003 Jul 30;120A(3):345-9. doi: 10.1002/ajmg.a.20090. Am J Med Genet A. 2003. PMID: 12838553

7

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: liu q. 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.

8

[Association of the ABCG1 gene polymorphism with the susceptibility and severity of coronary atherosclerotic disease].

Ma L, Cheng GH, Wang H, Li L, Gong YQ, Liu QJ. Ma L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):506-11. doi: 10.3760/cma.j.issn.1003-9406.2010.05.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010. PMID: 20931526 Chinese.

9

Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.

Feng Y, Ke X, Zhai M, Xin Q, Gong Y, Liu Q. Feng Y, et al. Among authors: liu q. Singapore Med J. 2013 May;54(5):251-4. doi: 10.11622/smedj.2013102. Singapore Med J. 2013. PMID: 23716148 Free article.

10

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q. Wang X, et al. Among authors: liu y, liu q. Eur J Hum Genet. 2014 Sep;22(9):1105-10. doi: 10.1038/ejhg.2014.7. Epub 2014 Feb 5. Eur J Hum Genet. 2014. PMID: 24496061 Free PMC article.

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