Shaffer LG - Search Results

1

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.

Kauvar EF, Hu P, Pineda-Alvarez DE, Solomon BD, Dutra A, Pak E, Blessing B, Proud V, Shanske AL, Stevens CA, Rosenfeld JA, Shaffer LG, Roessler E, Muenke M. Kauvar EF, et al. Among authors: shaffer lg. Mol Genet Metab. 2011 Apr;102(4):470-80. doi: 10.1016/j.ymgme.2010.12.008. Epub 2010 Dec 21. Mol Genet Metab. 2011. PMID: 21227728 Free PMC article.

2

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation.

Page SL, Shin JC, Han JY, Choo KH, Shaffer LG. Page SL, et al. Among authors: shaffer lg. Hum Mol Genet. 1996 Sep;5(9):1279-88. doi: 10.1093/hmg/5.9.1279. Hum Mol Genet. 1996. PMID: 8872467

3

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

4

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG. Wu YQ, et al. Among authors: shaffer lg. Hum Mol Genet. 1999 Feb;8(2):313-21. doi: 10.1093/hmg/8.2.313. Hum Mol Genet. 1999. PMID: 9931339

5

Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene.

Bowles KR, Gibson J, Wu J, Shaffer LG, Towbin JA, Bowles NE. Bowles KR, et al. Among authors: shaffer lg. Hum Genet. 1999 Oct;105(4):354-9. doi: 10.1007/s004399900136. Hum Genet. 1999. PMID: 10543405

6

Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily.

Wu YQ, Lin X, Liu CM, Jamrich M, Shaffer LG. Wu YQ, et al. Among authors: shaffer lg. Mol Genet Metab. 2001 Apr;72(4):343-50. doi: 10.1006/mgme.2001.3160. Mol Genet Metab. 2001. PMID: 11286509

7

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Stankiewicz P, et al. Among authors: shaffer lg. Am J Hum Genet. 2003 May;72(5):1101-16. doi: 10.1086/374385. Epub 2003 Mar 20. Am J Hum Genet. 2003. PMID: 12649807 Free PMC article.

8

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

9

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

10

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: shaffer lg. 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

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