Guan L - Search Results

1

Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.

Wang H, Guan J, Guan L, Yang J, Wu K, Lin Q, Xiong W, Lan L, Zhao C, Xie L, Yu L, Dan Bing, Zhao L, Wang D, Wang Q. Wang H, et al. Among authors: guan j, guan l. Sci Rep. 2018 May 30;8(1):8424. doi: 10.1038/s41598-018-26554-7. Sci Rep. 2018. PMID: 29849037 Free PMC article.

2

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Gao X, Su Y, Guan LP, Yuan YY, Huang SS, Lu Y, Wang GJ, Han MY, Yu F, Song YS, Zhu QY, Wu J, Dai P. Gao X, et al. PLoS One. 2013 May 14;8(5):e63026. doi: 10.1371/journal.pone.0063026. Print 2013. PLoS One. 2013. PMID: 23690975 Free PMC article.

3

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q. Zhao Y, et al. Among authors: guan l. PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013. PLoS One. 2013. PMID: 23936043 Free PMC article.

4

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.

Gao X, Zhu QY, Song YS, Wang GJ, Yuan YY, Xin F, Huang SS, Kang DY, Han MY, Guan LP, Zhang JG, Dai P. Gao X, et al. J Transl Med. 2013 Nov 9;11:284. doi: 10.1186/1479-5876-11-284. J Transl Med. 2013. PMID: 24206587 Free PMC article.

5

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

Zhao Y, Wang D, Zong L, Zhao F, Guan L, Zhang P, Shi W, Lan L, Wang H, Li Q, Han B, Yang L, Jin X, Wang J, Wang J, Wang Q. Zhao Y, et al. Among authors: guan l. PLoS One. 2014 May 14;9(5):e97064. doi: 10.1371/journal.pone.0097064. eCollection 2014. PLoS One. 2014. PMID: 24827932 Free PMC article.

6

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Almoguera B, et al. Among authors: guan l. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9. Orphanet J Rare Dis. 2014. PMID: 25491489 Free PMC article.

7

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y. Wang H, et al. Among authors: guan l. J Hum Genet. 2015 Mar;60(3):119-126. doi: 10.1038/jhg.2014.114. Epub 2015 Jan 15. J Hum Genet. 2015. PMID: 25589040 Free PMC article.

8

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.

Ma X, Guan L, Wu W, Zhang Y, Zheng W, Gao YT, Long J, Wu N, Wu L, Xiang Y, Xu B, Shen M, Chen Y, Wang Y, Yin Y, Li Y, Xu H, Xu X, Li Y. Ma X, et al. Among authors: guan l. Sci Rep. 2015 Mar 18;5:9236. doi: 10.1038/srep09236. Sci Rep. 2015. PMID: 25783483 Free PMC article.

9

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.

Gao X, Su Y, Chen YL, Han MY, Yuan YY, Xu JC, Xin F, Zhang MG, Huang SS, Wang GJ, Kang DY, Guan LP, Zhang JG, Dai P. Gao X, et al. PLoS One. 2015 Apr 28;10(4):e0124757. doi: 10.1371/journal.pone.0124757. eCollection 2015. PLoS One. 2015. PMID: 25919374 Free PMC article.

10

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

Deng H, Lu Q, Xu H, Deng X, Yuan L, Yang Z, Guo Y, Lin Q, Xiao J, Guan L, Song Z. Deng H, et al. Among authors: guan l. PLoS One. 2016 May 19;11(5):e0155908. doi: 10.1371/journal.pone.0155908. eCollection 2016. PLoS One. 2016. PMID: 27196565 Free PMC article.

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