Shaffer LG - Search Results

1

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.

Kashork CD, Lupski JR, Shaffer LG. Kashork CD, et al. Among authors: shaffer lg. Prenat Diagn. 1999 May;19(5):446-9. doi: 10.1002/(sici)1097-0223(199905)19:5<446::aid-pd566>3.0.co;2-o. Prenat Diagn. 1999. PMID: 10360513

2

Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.

Kashork CD, Chen KS, Lupski JR, Shaffer LG. Kashork CD, et al. Among authors: shaffer lg. Ann N Y Acad Sci. 1999 Oct;883(1):457-459. doi: 10.1111/j.1749-6632.1999.tb08609.x. Ann N Y Acad Sci. 1999. PMID: 29086957 No abstract available.

3

Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.

Kashork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potocki L, O'Brien WE, Shaffer LG. Kashork CD, et al. Among authors: shaffer lg. Prenat Diagn. 2002 Nov;22(11):1028-32. doi: 10.1002/pd.466. Prenat Diagn. 2002. PMID: 12424769

4

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

5

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.

Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Shaffer LG, et al. Am J Med Genet. 1997 Mar 31;69(3):325-31. Am J Med Genet. 1997. PMID: 9096765

6

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.

Kashork CD, Chen KS, Lupski JR, Shaffer LG. Kashork CD, et al. Among authors: shaffer lg. Ann N Y Acad Sci. 1999 Sep 14;883:457-9. Ann N Y Acad Sci. 1999. PMID: 10586272

7

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.

Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR, Shaffer LG. Inoue K, et al. Among authors: shaffer lg. Prenat Diagn. 2001 Dec;21(13):1133-6. doi: 10.1002/pd.186. Prenat Diagn. 2001. PMID: 11787038

8

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

9

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

10

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Ou Z, Jarmuz M, Sparagana SP, Michaud J, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Ou Z, et al. Among authors: shaffer lg. Hum Genet. 2006 Sep;120(2):227-37. doi: 10.1007/s00439-006-0200-7. Epub 2006 Jun 22. Hum Genet. 2006. PMID: 16791615

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