Liu JY - Search Results

1

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: liu jy. 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.

2

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK. Liu JY, et al. Among authors: liu m. J Hum Genet. 2007;52(6):565-570. doi: 10.1007/s10038-007-0152-3. Epub 2007 May 22. J Hum Genet. 2007. PMID: 17516023

3

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, Liu J, Jiang F, Wang Q, Liu M. Liu X, et al. Mol Vis. 2010 Mar 17;16:454-61. doi: 10.1167/3.9.454. Mol Vis. 2010. PMID: 20309401 Free PMC article.

4

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: liu j, liu m, liu jy. 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

5

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.

Gao Y, Yang K, Xu S, Wang C, Liu J, Zhang Z, Yuan M, Luo X, Liu M, Wang QK, Liu JY. Gao Y, et al. Among authors: liu j, liu m, liu jy. Mol Genet Metab. 2011 Jan;102(1):107-9. doi: 10.1016/j.ymgme.2010.09.007. Epub 2010 Sep 27. Mol Genet Metab. 2011. PMID: 20951619

6

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. 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

7

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: liu j, liu m, liu jy. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. Nat Genet. 2012. PMID: 22327515

8

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.

Ma H, Feng S, Deng X, Wang L, Zeng S, Wang C, Ma X, Sun H, Chen R, Du S, Mao J, Zhang X, Ma C, Jiang H, Zhang L, Tang B, Liu JY. Ma H, et al. Among authors: liu jy. Epilepsia. 2018 Aug;59(8):1621-1630. doi: 10.1111/epi.14511. Epub 2018 Jul 15. Epilepsia. 2018. PMID: 30009426

9

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: liu m, liu cj, liu t, liu jy. 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

10

Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.

Liu K, Luo J, Ma T, Fang M, Xu Z, Wang L, Zhang XY, Wen J, Liu C, Cao Y, Li X, Zhang L, Guo A, Wang N, Yi P, Liu JY. Liu K, et al. Among authors: liu c, liu jy. J Invest Dermatol. 2021 Mar;141(3):533-544. doi: 10.1016/j.jid.2020.05.121. Epub 2020 Aug 11. J Invest Dermatol. 2021. PMID: 32795530 Free article.

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