Shaffer LG - Search Results

1

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.

Adams SA, Coppinger J, Saitta SC, Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG, Bejjani BA. Adams SA, et al. Among authors: shaffer lg. Genet Med. 2009 May;11(5):314-22. doi: 10.1097/GIM.0b013e3181a028a5. Genet Med. 2009. PMID: 19365269 Free article.

2

Pure trisomy 10p involving an isochromosome 10p.

Berend SA, Shaffer LG, Bejjani BA. Berend SA, et al. Among authors: shaffer lg. Clin Genet. 1999 May;55(5):367-71. doi: 10.1034/j.1399-0004.1999.550512.x. Clin Genet. 1999. PMID: 10422809

3

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory.

Atkins KE, Gregg A, Spikes AS, Bacino CA, Bejjani BA, Kirkland J, Shaffer LG. Atkins KE, et al. Among authors: shaffer lg. Am J Med Genet. 2000 Apr 24;91(5):377-82. doi: 10.1002/(sici)1096-8628(20000424)91:5<377::aid-ajmg11>3.0.co;2-8. Am J Med Genet. 2000. PMID: 10767002

4

The promise and pitfalls of telomere region-specific probes.

Ballif BC, Kashork CD, Shaffer LG. Ballif BC, et al. Among authors: shaffer lg. Am J Hum Genet. 2000 Nov;67(5):1356-9. doi: 10.1016/S0002-9297(07)62969-3. Am J Hum Genet. 2000. PMID: 11032793 Free PMC article. No abstract available.

5

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: shaffer lg. Eur J Hum Genet. 2000 Oct;8(10):764-70. doi: 10.1038/sj.ejhg.5200536. Eur J Hum Genet. 2000. PMID: 11039576

6

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

Mégarbané A, Bejjani BA, Shaffer LG, Jambart S, Souraty N, Kashork CD, Le Merrer M. Mégarbané A, et al. Among authors: shaffer lg. Am J Med Genet. 2002 Feb 15;108(1):69-74. doi: 10.1002/ajmg.10222. Am J Med Genet. 2002. PMID: 11857553

7

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

Wu YQ, Bejjani BA, Tsui LC, Mandel A, Osborne LR, Shaffer LG. Wu YQ, et al. Among authors: shaffer lg. Am J Med Genet. 2002 Apr 22;109(2):121-4. doi: 10.1002/ajmg.10321. Am J Med Genet. 2002. PMID: 11977160 Free PMC article.

8

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

Berend SA, Bejjani BA, McCaskill C, Shaffer LG. Berend SA, et al. Among authors: shaffer lg. Am J Med Genet. 2002 Sep 1;111(4):362-5. doi: 10.1002/ajmg.10566. Am J Med Genet. 2002. PMID: 12210293

9

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: shaffer lg. 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.

10

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: shaffer lg. 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

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