Kashork CD - Search Results

1

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

2

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. McCormack WM Jr, et al. Am J Med Genet. 2002 Nov 1;112(4):384-9. doi: 10.1002/ajmg.10659. Am J Med Genet. 2002. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):384-9. PMID: 12376941 Corrected and republished.

3

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

4

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.

5

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

6

Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.

Jarmuz M, Ballif BC, Kashork CD, Theisen AP, Bejjani BA, Shaffer LG. Jarmuz M, et al. Among authors: kashork cd. Methods Mol Med. 2006;128:23-31. doi: 10.1007/978-1-59745-159-8_3. Methods Mol Med. 2006. PMID: 17071987

7

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.

Bacino CA, Kashork CD, Davino NA, Shaffer LG. Bacino CA, et al. Among authors: kashork cd. Am J Med Genet. 2000 Jun 5;92(4):250-5. Am J Med Genet. 2000. PMID: 10842290

8

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.

Ligon AH, Kashork CD, Richards CS, Shaffer LG. Ligon AH, et al. Among authors: kashork cd. Eur J Hum Genet. 2000 Apr;8(4):293-8. doi: 10.1038/sj.ejhg.5200450. Eur J Hum Genet. 2000. PMID: 10854113

9

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

10

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.

Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. Heilstedt HA, et al. Among authors: kashork cd. Clin Genet. 2003 Oct;64(4):310-6. doi: 10.1034/j.1399-0004.2003.00126.x. Clin Genet. 2003. PMID: 12974736

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