Chen KS - Search Results

1

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

2

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

3

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.

4

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

5

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.

6

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.

Juyal RC, Greenberg F, Mengden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen KS, Baldini A, et al. Juyal RC, et al. Among authors: chen ks. Am J Med Genet. 1995 Sep 11;58(3):286-91. doi: 10.1002/ajmg.1320580317. Am J Med Genet. 1995. PMID: 8533833

7

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

8

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.

9

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

10

Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.

Campbell HD, Fountain S, Young IG, Claudianos C, Hoheisel JD, Chen KS, Lupski JR. Campbell HD, et al. Among authors: chen ks. Genomics. 1997 May 15;42(1):46-54. doi: 10.1006/geno.1997.4709. Genomics. 1997. PMID: 9177775

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