Kashork CD - Search Results

1

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE. Spiteri E, et al. Among authors: kashork cd. Hum Mol Genet. 2003 Aug 1;12(15):1823-37. doi: 10.1093/hmg/ddg203. Hum Mol Genet. 2003. PMID: 12874103

2

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. Ballif BC, et al. Among authors: kashork cd. Hum Mol Genet. 2003 Sep 1;12(17):2153-65. doi: 10.1093/hmg/ddg231. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915474

3

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.

Babcock M, Pavlicek A, Spiteri E, Kashork CD, Ioshikhes I, Shaffer LG, Jurka J, Morrow BE. Babcock M, et al. Among authors: kashork cd. Genome Res. 2003 Dec;13(12):2519-32. doi: 10.1101/gr.1549503. Genome Res. 2003. PMID: 14656960 Free PMC article.

4

FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.

Ballif BC, Kashork CD, Shaffer LG. Ballif BC, et al. Among authors: kashork cd. Eur J Hum Genet. 2000 Oct;8(10):764-70. doi: 10.1038/sj.ejhg.5200536. Eur J Hum Genet. 2000. PMID: 11039576

5

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Sutton VR, et al. Among authors: kashork cd. Am J Med Genet. 2002 Sep 15;112(1):23-7. doi: 10.1002/ajmg.10703. Am J Med Genet. 2002. PMID: 12239715

6

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Heilstedt HA, et al. Among authors: kashork cd. Am J Hum Genet. 2003 May;72(5):1200-12. doi: 10.1086/375179. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687501 Free PMC article.

7

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Among authors: kashork cd. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

8

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: kashork cd. Am J Hum Genet. 1999 Feb;64(2):471-8. doi: 10.1086/302240. Am J Hum Genet. 1999. PMID: 9973284 Free PMC article.

9

Caution: telomere crossing.

Shaffer LG, Kashork CD, Bacino CA, Benke PJ. Shaffer LG, et al. Among authors: kashork cd. Am J Med Genet. 1999 Nov 26;87(3):278-80. doi: 10.1002/(sici)1096-8628(19991126)87:3<278::aid-ajmg19>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10564888 No abstract available.

10

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: kashork cd. Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743. Nat Genet. 2000. PMID: 10615134

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