Li Y - Search Results

1

Gain-of-function mutations in SCN11A cause familial episodic pain.

Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY. Zhang XY, et al. Among authors: li y, li x. Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207120 Free PMC article.

2

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.

Dai X, Gao Y, Xu Z, Cui X, Liu J, Li Y, Xu H, Liu M, Wang QK, Liu JY. Dai X, et al. Among authors: li y. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1305-10. doi: 10.1002/ajmg.b.31102. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20552677

3

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.

Xu Z, Li Y, Zhang X, Zeng F, Yuan M, Liu M, Wang QK, Liu JY. Xu Z, et al. Among authors: li y. J Genet Genomics. 2011 Apr 20;38(4):149-56. doi: 10.1016/j.jgg.2011.03.002. Epub 2011 Mar 24. J Genet Genomics. 2011. PMID: 21530898

4

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Wang C, et al. Among authors: li y. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. Nat Genet. 2012. PMID: 22327515

5

A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate.

Du S, Yang Y, Yi P, Luo J, Liu T, Chen R, Liu CJ, Ma T, Li Y, Wang C, Weng J, Liu M, Zhang L, Yang B, Zeng X, Liu JY. Du S, et al. Among authors: li y. Genet Test Mol Biomarkers. 2019 Nov;23(11):759-765. doi: 10.1089/gtmb.2019.0092. Epub 2019 Oct 22. Genet Test Mol Biomarkers. 2019. PMID: 31638429

6

Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.

Yang L, Li L, Tang H, Ma T, Li Y, Zhang X, Shi X, Liu JY. Yang L, et al. Among authors: li y, li l. Pain. 2020 Jul;161(7):1470-1482. doi: 10.1097/j.pain.0000000000001853. Pain. 2020. PMID: 32132394

7

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.

Li Y, Jiang L, Wang L, Wang C, Liu C, Guo A, Liu M, Zhang L, Ma C, Zhang X, Gao S, Liu JY. Li Y, et al. Front Cell Dev Biol. 2020 Nov 4;8:591781. doi: 10.3389/fcell.2020.591781. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33251218 Free PMC article.

8

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.

Sun H, Cao Z, Gao R, Li Y, Chen R, Du S, Ma T, Wang J, Xu X, Liu JY. Sun H, et al. Among authors: li y. Mol Genet Genomic Med. 2021 May;9(5):e1670. doi: 10.1002/mgg3.1670. Epub 2021 Apr 1. Mol Genet Genomic Med. 2021. PMID: 33793087 Free PMC article.

9

Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly.

Feng A, Dai X, Wang X, Gao Y, Luo R, Li Y, Zhang N, Liu J. Feng A, et al. Among authors: li y. J Huazhong Univ Sci Technolog Med Sci. 2011 Aug;31(4):570. doi: 10.1007/s11596-011-0492-2. Epub 2011 Aug 7. J Huazhong Univ Sci Technolog Med Sci. 2011. PMID: 21823024

10

FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.

Jiang L, Li Y, Yang K, Wang Y, Wang J, Cui X, Mao J, Gao Y, Yi P, Wang L, Liu JY. Jiang L, et al. Among authors: li y. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):41. doi: 10.1167/iovs.61.5.41. Invest Ophthalmol Vis Sci. 2020. PMID: 32446246 Free PMC article.

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