Shaffer LG - Search Results

1

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG. Rosenfeld JA, et al. Among authors: shaffer lg. Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15. Eur J Med Genet. 2011. PMID: 20951845

2

Duplication 3q syndrome: molecular delineation of the critical region.

Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. Aqua MS, et al. Among authors: shaffer lg. Am J Med Genet. 1995 Jan 2;55(1):33-7. doi: 10.1002/ajmg.1320550111. Am J Med Genet. 1995. PMID: 7702094

3

Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.

Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL. Cheung SW, et al. Among authors: shaffer lg. Am J Med Genet. 1997 Oct 3;72(1):47-50. doi: 10.1002/(sici)1096-8628(19971003)72:1<47::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9295074

4

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Wu YQ, et al. Among authors: shaffer lg. Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9637430

5

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. Among authors: shaffer lg. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.

6

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.

7

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

8

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.

9

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: shaffer lg. Hum Mol Genet. 2003 Aug 1;12(15):1823-37. doi: 10.1093/hmg/ddg203. Hum Mol Genet. 2003. PMID: 12874103

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

355 results

Search Page

Filters