Chen K - Search Results

1

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB. Riazuddin S, et al. Among authors: chen k. Am J Hum Genet. 2006 Jan;78(1):137-43. doi: 10.1086/499164. Epub 2005 Nov 21. Am J Hum Genet. 2006. PMID: 16385457 Free PMC article.

2

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB. Liang Y, et al. Among authors: chen ks. Am J Hum Genet. 1998 Apr;62(4):904-15. doi: 10.1086/301786. Am J Hum Genet. 1998. PMID: 9529344 Free PMC article.

3

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Liburd N, et al. Among authors: chen ks. Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735029

4

A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA. Probst FJ, et al. Among authors: chen ks. Genomics. 1999 Feb 1;55(3):348-52. doi: 10.1006/geno.1998.5669. Genomics. 1999. PMID: 10049592

5

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: chen ks. Am J Hum Genet. 1999 Feb;64(2):471-8. doi: 10.1086/302240. Am J Hum Genet. 1999. PMID: 9973284 Free PMC article.

6

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

Chen KS, Gunaratne PH, Hoheisel JD, Young IG, Miklos GL, Greenberg F, Shaffer LG, Campbell HD, Lupski JR. Chen KS, et al. Am J Hum Genet. 1995 Jan;56(1):175-82. Am J Hum Genet. 1995. PMID: 7825574 Free PMC article.

7

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Chen KS, et al. Nat Genet. 1997 Oct;17(2):154-63. doi: 10.1038/ng1097-154. Nat Genet. 1997. PMID: 9326934

8

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: chen ks. Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743. Nat Genet. 2000. PMID: 10615134 Free article.

9

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

Zhao Q, Chen KS, Bejjani BA, Lupski JR. Zhao Q, et al. Among authors: chen ks. Genomics. 1998 May 1;49(3):394-400. doi: 10.1006/geno.1998.5285. Genomics. 1998. PMID: 9615224

10

Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.

Potocki L, Chen KS, Lupski JR. Potocki L, et al. Among authors: chen ks. Genomics. 1999 Apr 1;57(1):180-2. doi: 10.1006/geno.1998.5748. Genomics. 1999. PMID: 10191102 No abstract available.

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