Shaffer LG - Search Results

1

Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.

Jarmuz M, Ballif BC, Kashork CD, Theisen AP, Bejjani BA, Shaffer LG. Jarmuz M, et al. Among authors: shaffer lg. Methods Mol Med. 2006;128:23-31. doi: 10.1007/978-1-59745-159-8_3. Methods Mol Med. 2006. PMID: 17071987

2

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: shaffer lg. Am J Hum Genet. 1999 Feb;64(2):471-8. doi: 10.1086/302240. Am J Hum Genet. 1999. PMID: 9973284 Free PMC article.

3

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

4

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.

Mutchinick OM, Shaffer LG, Kashork CD, Cervantes EI. Mutchinick OM, et al. Among authors: shaffer lg. Am J Med Genet. 1999 Jul 16;85(2):99-104. doi: 10.1002/(sici)1096-8628(19990716)85:2<99::aid-ajmg1>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10406660

5

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

6

Caution: telomere crossing.

Shaffer LG, Kashork CD, Bacino CA, Benke PJ. Shaffer LG, et al. Am J Med Genet. 1999 Nov 26;87(3):278-80. doi: 10.1002/(sici)1096-8628(19991126)87:3<278::aid-ajmg19>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10564888 No abstract available.

7

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

8

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: shaffer lg. Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743. Nat Genet. 2000. PMID: 10615134

9

Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.

Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG. Berend SA, et al. Among authors: shaffer lg. Am J Med Genet. 2000 Apr 10;91(4):313-7. Am J Med Genet. 2000. PMID: 10766989

10

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

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