Nelson L - Search Results

1

Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

Jama M, Nelson L, Pont-Kingdon G, Mao R, Lyon E. Jama M, et al. Among authors: nelson l. J Mol Diagn. 2007 Nov;9(5):618-23. doi: 10.2353/jmoldx.2007.070027. Epub 2007 Sep 20. J Mol Diagn. 2007. PMID: 17884932 Free PMC article.

2

Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes.

Liew M, Nelson L, Margraf R, Mitchell S, Erali M, Mao R, Lyon E, Wittwer C. Liew M, et al. Among authors: nelson l. J Mol Diagn. 2006 Feb;8(1):97-104. doi: 10.2353/jmoldx.2006.050053. J Mol Diagn. 2006. PMID: 16436640 Free PMC article.

3

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Calderon FR, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R. Calderon FR, et al. Among authors: nelson l. J Inherit Metab Dis. 2007 Oct;30(5):818. doi: 10.1007/s10545-007-0461-x. Epub 2007 Sep 17. J Inherit Metab Dis. 2007. PMID: 17876724

4

Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.

Mao R, Nelson L, Kates R, Miller CE, Donaldson DL, Tang W, Ward K. Mao R, et al. Among authors: nelson l. Prenat Diagn. 2002 Dec;22(13):1171-6. doi: 10.1002/pd.467. Prenat Diagn. 2002. PMID: 12478627

5

The factor V Leiden and the G20210A prothrombin gene mutations are rare in women with fetal death.

Sullivan AE, Nelson L, Rice JA, Porter TF, Branch DW, Silver RM. Sullivan AE, et al. Among authors: nelson l. Am J Reprod Immunol. 2005 Jul;54(1):1-4. doi: 10.1111/j.1600-0897.2005.00277.x. Am J Reprod Immunol. 2005. PMID: 15948766

6

Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, Samowitz W, Spirio L, Carlson M, Burt R, et al. Groden J, et al. Among authors: nelson l. Am J Hum Genet. 1993 Feb;52(2):263-72. Am J Hum Genet. 1993. PMID: 8381579 Free PMC article.

7

Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.

McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. McDonald JE, et al. Among authors: nelson l. Am J Med Genet. 2000 Aug 14;93(4):320-7. doi: 10.1002/1096-8628(20000814)93:4<320::aid-ajmg12>3.0.co;2-r. Am J Med Genet. 2000. PMID: 10946360 Review.

8

Placental abruption is more frequent in women with the angiotensinogen Thr235 mutation.

Zhang XQ, Craven C, Nelson L, Varner MW, Ward KJ. Zhang XQ, et al. Among authors: nelson l. Placenta. 2007 Jul;28(7):616-9. doi: 10.1016/j.placenta.2006.09.011. Epub 2006 Nov 20. Placenta. 2007. PMID: 17116328

9

Tetranucleotide repeat polymorphism at the D8S492 locus.

Ward K, Nelson L, Lu J, Petterson M, Fillmore K, Riley R. Ward K, et al. Among authors: nelson l. Hum Mol Genet. 1994 Oct;3(10):1913. doi: 10.1093/hmg/3.10.1913. Hum Mol Genet. 1994. PMID: 7849728 No abstract available.

10

An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene.

Bleyl S, Ainsworth P, Nelson L, Viskochil D, Ward K. Bleyl S, et al. Among authors: nelson l. Hum Mol Genet. 1994 Mar;3(3):517-8. doi: 10.1093/hmg/3.3.517. Hum Mol Genet. 1994. PMID: 8012366 No abstract available.

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