Yan D - Search Results

1

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H. Liu X, et al. Among authors: yan d. Am J Hum Genet. 2010 Jan;86(1):65-71. doi: 10.1016/j.ajhg.2009.11.015. Am J Hum Genet. 2010. PMID: 20021999 Free PMC article.

2

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.

Liu XZ, Ouyang XM, Xia XJ, Zheng J, Pandya A, Li F, Du LL, Welch KO, Petit C, Smith RJ, Webb BT, Yan D, Arnos KS, Corey D, Dallos P, Nance WE, Chen ZY. Liu XZ, et al. Among authors: yan d. Hum Mol Genet. 2003 May 15;12(10):1155-62. doi: 10.1093/hmg/ddg127. Hum Mol Genet. 2003. PMID: 12719379

3

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.

Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ. Yan D, et al. Hum Genet. 2003 Dec;114(1):44-50. doi: 10.1007/s00439-003-1018-1. Epub 2003 Sep 18. Hum Genet. 2003. PMID: 14505035

4

Mutational spectrum in Usher syndrome type II.

Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, Kaiser M, Balkany T, Liu XZ. Ouyang XM, et al. Clin Genet. 2004 Apr;65(4):288-93. doi: 10.1046/j.1399-0004.2004.00216.x. Clin Genet. 2004. PMID: 15025721

5

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ. Zheng QY, et al. Among authors: yan d. Hum Mol Genet. 2005 Jan 1;14(1):103-11. doi: 10.1093/hmg/ddi010. Epub 2004 Nov 10. Hum Mol Genet. 2005. PMID: 15537665 Free PMC article.

6

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ. Ouyang XM, et al. Among authors: yan d. Hum Genet. 2005 Mar;116(4):292-9. doi: 10.1007/s00439-004-1227-2. Epub 2005 Jan 20. Hum Genet. 2005. PMID: 15660226

7

Etiologic diagnosis of sensorineural hearing loss in adults.

Angeli SI, Yan D, Telischi F, Balkany TJ, Ouyang XM, Du LL, Eshraghi A, Goodwin L, Liu XZ. Angeli SI, et al. Among authors: yan d. Otolaryngol Head Neck Surg. 2005 Jun;132(6):890-5. doi: 10.1016/j.otohns.2005.03.001. Otolaryngol Head Neck Surg. 2005. PMID: 15944560

8

Refinement of the DFNA41 locus and candidate genes analysis.

Yan D, Ouyang XM, Zhu X, Du LL, Chen ZY, Liu XZ. Yan D, et al. J Hum Genet. 2005;50(10):516-522. doi: 10.1007/s10038-005-0286-0. Epub 2005 Sep 30. J Hum Genet. 2005. PMID: 16195816

9

Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss.

Yan D, Ouyang XM, Angeli SI, Du LL, Liu XZ. Yan D, et al. Am J Med Genet A. 2007 Feb 15;143(4):385-6. doi: 10.1002/ajmg.a.31553. Am J Med Genet A. 2007. PMID: 17256794 No abstract available.

10

Cochlear molecules and hereditary deafness.

Yan D, Liu XZ. Yan D, et al. Front Biosci. 2008 May 1;13:4972-83. doi: 10.2741/3056. Front Biosci. 2008. PMID: 18508562 Review.

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