Xu JC - Search Results

1

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

Yang K, Wang X, Wang WQ, Han MY, Hu LM, Kang DY, Yang JY, Liu M, Gao X, Yuan YY, Xu JC. Yang K, et al. Among authors: xu jc. Mol Genet Genomic Med. 2023 Mar;11(3):e2103. doi: 10.1002/mgg3.2103. Epub 2022 Nov 14. Mol Genet Genomic Med. 2023. PMID: 36373990 Free PMC article. Review.

2

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

Gao X, Wang GJ, Yuan YY, Xin F, Han MY, Lu JQ, Zhao H, Yu F, Xu JC, Zhang MG, Dong J, Lin X, Dai P. Gao X, et al. Among authors: xu jc. PLoS One. 2014 Jul 31;9(7):e103415. doi: 10.1371/journal.pone.0103415. eCollection 2014. PLoS One. 2014. PMID: 25080338 Free PMC article.

3

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. Among authors: xu jc. PLoS One. 2015 Apr 28;10(4):e0124757. doi: 10.1371/journal.pone.0124757. eCollection 2015. PLoS One. 2015. PMID: 25919374 Free PMC article.

4

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

Gao X, Huang SS, Yuan YY, Wang GJ, Xu JC, Ji YB, Han MY, Yu F, Kang DY, Lin X, Dai P. Gao X, et al. Among authors: xu jc. Am J Med Genet A. 2015 Oct;167A(10):2357-65. doi: 10.1002/ajmg.a.37206. Epub 2015 Jun 16. Am J Med Genet A. 2015. PMID: 26079994 Free PMC article.

5

Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family.

Gao X, Wang GJ, Yuan YY, Xin F, Han MY, Lu JQ, Zhao H, Yu F, Xu JC, Zhang MG, Dong J, Lin X, Dai P. Gao X, et al. Among authors: xu jc. PLoS One. 2015 Oct 1;10(10):e0137883. doi: 10.1371/journal.pone.0137883. eCollection 2015. PLoS One. 2015. PMID: 26425852 Free PMC article. No abstract available.

6

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

Gao X, Yuan YY, Wang GJ, Xu JC, Su Y, Lin X, Dai P. Gao X, et al. Among authors: xu jc. Biomed Res Int. 2017;2017:4707315. doi: 10.1155/2017/4707315. Epub 2017 Jan 29. Biomed Res Int. 2017. PMID: 28246597 Free PMC article.

7

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.

Huang B, Liu Y, Gao X, Xu J, Dai P, Zhu Q, Yuan Y. Huang B, et al. BMC Med Genet. 2017 Mar 24;18(1):36. doi: 10.1186/s12881-017-0396-5. BMC Med Genet. 2017. PMID: 28340560 Free PMC article.

8

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P. Gao X, et al. Among authors: xu jc. Neural Plast. 2017;2017:3192090. doi: 10.1155/2017/3192090. Epub 2017 Jun 13. Neural Plast. 2017. PMID: 28695016 Free PMC article.

9

Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.

Gao X, Yuan YY, Lin QF, Xu JC, Wang WQ, Qiao YH, Kang DY, Bai D, Xin F, Huang SS, Qiu SW, Guan LP, Su Y, Wang GJ, Han MY, Jiang Y, Liu HK, Dai P. Gao X, et al. Among authors: xu jc. J Med Genet. 2018 May;55(5):298-306. doi: 10.1136/jmedgenet-2017-104954. Epub 2018 Feb 16. J Med Genet. 2018. PMID: 29453195 Free PMC article.

10

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.

Gao X, Xu JC, Wang WQ, Yuan YY, Bai D, Huang SS, Wang GJ, Su Y, Li J, Kang DY, Zhang MG, Lin X, Dai P. Gao X, et al. Among authors: xu jc. Biomed Res Int. 2018 Apr 4;2018:5370802. doi: 10.1155/2018/5370802. eCollection 2018. Biomed Res Int. 2018. PMID: 29850532 Free PMC article.

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