Shaffer LG - Search Results

1

Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene.

Li D, Burch P, Gonzalez O, Kashork CD, Shaffer LG, Bachinski LL, Roberts R. Li D, et al. Among authors: shaffer lg. Biochem Biophys Res Commun. 2000 Jul 21;274(1):117-23. doi: 10.1006/bbrc.2000.3012. Biochem Biophys Res Commun. 2000. PMID: 10903905

2

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

3

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL. Jiang YH, et al. Among authors: shaffer lg. BMC Genomics. 2008 Jan 28;9:50. doi: 10.1186/1471-2164-9-50. BMC Genomics. 2008. PMID: 18226259 Free PMC article.

4

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Sutton VR, et al. Among authors: shaffer lg. Am J Med Genet. 2002 Sep 15;112(1):23-7. doi: 10.1002/ajmg.10703. Am J Med Genet. 2002. PMID: 12239715

5

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

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 Free article.

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

Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes.

Tubb BE, Bardien-Kruger S, Kashork CD, Shaffer LG, Ramagli LS, Xu J, Siciliano MJ, Bryan J. Tubb BE, et al. Among authors: shaffer lg. Genomics. 2000 Apr 15;65(2):146-56. doi: 10.1006/geno.2000.6156. Genomics. 2000. PMID: 10783262

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