Ballif BC - 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: ballif bc. 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

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: ballif bc. 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.

3

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. 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

4

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Ballif BC, Wakui K, Gajecka M, Shaffer LG. Ballif BC, et al. Hum Genet. 2004 Jan;114(2):198-206. doi: 10.1007/s00439-003-1029-y. Epub 2003 Oct 25. Hum Genet. 2004. PMID: 14579147

5

Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.

Ballif BC, Gajecka M, Shaffer LG. Ballif BC, et al. Chromosome Res. 2004;12(2):133-41. doi: 10.1023/b:chro.0000013165.88969.10. Chromosome Res. 2004. PMID: 15053483

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: ballif bc. Methods Mol Med. 2006;128:23-31. doi: 10.1007/978-1-59745-159-8_3. Methods Mol Med. 2006. PMID: 17071987

7

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Luo Y, et al. Among authors: ballif bc. Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4. Hum Mol Genet. 2011. PMID: 21729882 Free PMC article.

8

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

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

9

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: ballif bc. Clin Genet. 2003 Oct;64(4):310-6. doi: 10.1034/j.1399-0004.2003.00126.x. Clin Genet. 2003. PMID: 12974736

10

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.

Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG. Gajecka M, et al. Among authors: ballif bc. Eur J Hum Genet. 2005 Feb;13(2):139-49. doi: 10.1038/sj.ejhg.5201302. Eur J Hum Genet. 2005. PMID: 15483646

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