Shaffer LG - Search Results

1

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T. Schröck E, et al. Among authors: shaffer lg. Hum Genet. 1997 Dec;101(3):255-62. doi: 10.1007/s004390050626. Hum Genet. 1997. PMID: 9439652

2

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR. Roa BB, et al. Among authors: shaffer lg. Hum Genet. 1996 May;97(5):642-9. Hum Genet. 1996. PMID: 8655146

3

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

4

Molecular mechanisms for constitutional chromosomal rearrangements in humans.

Shaffer LG, Lupski JR. Shaffer LG, et al. Annu Rev Genet. 2000;34:297-329. doi: 10.1146/annurev.genet.34.1.297. Annu Rev Genet. 2000. PMID: 11092830 Review.

5

Epigenetic detection of human chromosome 14 uniparental disomy.

Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RL. Murphy SK, et al. Among authors: shaffer lg. Hum Mutat. 2003 Jul;22(1):92-7. doi: 10.1002/humu.10237. Hum Mutat. 2003. PMID: 12815599

6

Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISH.

Page SL, Earnshaw WC, Choo KH, Shaffer LG. Page SL, et al. Among authors: shaffer lg. Hum Mol Genet. 1995 Feb;4(2):289-94. doi: 10.1093/hmg/4.2.289. Hum Mol Genet. 1995. PMID: 7757082

7

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT. Goodman BK, et al. Among authors: shaffer lg. Am J Med Genet. 1998 Dec 4;80(4):377-84. doi: 10.1002/(sici)1096-8628(19981204)80:4<377::aid-ajmg14>3.0.co;2-7. Am J Med Genet. 1998. PMID: 9856567

8

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. Among authors: shaffer lg. Hum Genet. 2004 Jan;114(2):198-206. doi: 10.1007/s00439-003-1029-y. Epub 2003 Oct 25. Hum Genet. 2004. PMID: 14579147

9

Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.

Ligon AH, Beaudet AL, Shaffer LG. Ligon AH, et al. Among authors: shaffer lg. Am J Hum Genet. 1997 Jul;61(1):51-9. doi: 10.1086/513904. Am J Hum Genet. 1997. PMID: 9245984 Free PMC article.

10

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

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