Dai L - Search Results

1

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Among authors: dai l. Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2. Sci Rep. 2019. PMID: 30718709 Free PMC article.

2

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

Wang Y, Garraoui A, Zeng L, Lai M, He F, Wang H, Jiang C, Chen Y, Dai L, Fan N, Yang H, Zhang J, Liu X. Wang Y, et al. Among authors: dai l. Oncotarget. 2017 Sep 30;8(49):86718-86725. doi: 10.18632/oncotarget.21415. eCollection 2017 Oct 17. Oncotarget. 2017. PMID: 29156830 Free PMC article.

3

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Zhang J, Duo L, Lin Z, Wang H, Yin J, Cao X, Zhao J, Dai L, Liu X, Zhang J, Yang Y, Tang Z. Zhang J, et al. Among authors: dai l. Gene. 2015 Jul 15;566(1):84-8. doi: 10.1016/j.gene.2015.04.039. Epub 2015 Apr 18. Gene. 2015. PMID: 25895478

4

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.

Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y. Cao X, et al. Among authors: dai l. J Invest Dermatol. 2014 Jan;134(1):284-287. doi: 10.1038/jid.2013.302. Epub 2013 Jul 18. J Invest Dermatol. 2014. PMID: 23867895 Free article. No abstract available.

5

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y. Wang H, et al. Among authors: dai l. Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168385

6

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: dai l. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.

7

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.

Zhang F, Dai L, Lin W, Wang W, Liu X, Zhang J, Yang T, Liu X, Shen H, Chen X, Tan L, Tian Q, Deng HW, Xu X, Guo X. Zhang F, et al. Among authors: dai l. Funct Integr Genomics. 2016 Jan;16(1):13-7. doi: 10.1007/s10142-015-0462-z. Epub 2015 Aug 20. Funct Integr Genomics. 2016. PMID: 26290467

8

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X. Lin Z, et al. Among authors: dai l. Nat Genet. 2016 Dec;48(12):1508-1516. doi: 10.1038/ng.3701. Epub 2016 Oct 31. Nat Genet. 2016. PMID: 27798626

9

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.

Zhang F, Liang J, Guo X, Zhang Y, Wen Y, Li Q, Zhang Z, Ma W, Dai L, Liu X, Yang L, Wang J. Zhang F, et al. Among authors: dai l. PLoS One. 2013 Aug 29;8(8):e72316. doi: 10.1371/journal.pone.0072316. eCollection 2013. PLoS One. 2013. PMID: 24009674 Free PMC article.

10

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.

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