Shrimpton AE - Search Results

1

R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion.

Shrimpton AE. Shrimpton AE. Mol Diagn. 2000 Sep;5(3):235-8. doi: 10.1054/modi.2000.9730. Mol Diagn. 2000. PMID: 11070158

2

Familial dementia caused by polymerization of mutant neuroserpin.

Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA. Davis RL, et al. Among authors: shrimpton ae. Nature. 1999 Sep 23;401(6751):376-9. doi: 10.1038/43894. Nature. 1999. PMID: 10517635

3

Clinical News Update.

Shrimpton AE, Hicks K. Shrimpton AE, et al. Mol Diagn. 1997 Jun;2(2):160. doi: 10.1054/MODI00200160. Mol Diagn. 1997. PMID: 10462604 No abstract available.

4

A PCR assay for detecting clonal rearrangement of the TCR-gamma gene.

Lamberson C, Hutchison RE, Shrimpton AE. Lamberson C, et al. Among authors: shrimpton ae. Mol Diagn. 2001 Jun;6(2):117-24. doi: 10.1054/modi.2001.25321. Mol Diagn. 2001. PMID: 11468696

5

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Shrimpton AE, Hoo JJ. Shrimpton AE, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):201-6. doi: 10.1016/j.ejmg.2005.06.003. Epub 2005 Jul 11. Eur J Med Genet. 2006. PMID: 16497570

6

A new HLA-A1 mutation: a novel, null variant allele.

Henry JB, Hubbell CA, Davis MC, Fernandez-Vina MA, Yunis EJ, Shrimpton AE. Henry JB, et al. Among authors: shrimpton ae. Am J Clin Pathol. 2004 Aug;122(2):185-92. doi: 10.1309/8DE1-2YU6-5BKH-HQW6. Am J Clin Pathol. 2004. PMID: 15323134

7

Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations.

Bernacki SH, Farkas DH, Shi W, Chan V, Liu Y, Beck JC, Bailey KS, Pratt VM, Monaghan KG, Matteson KJ, Schaefer FV, Friez M, Shrimpton AE, Stenzel TT. Bernacki SH, et al. Among authors: shrimpton ae. Arch Pathol Lab Med. 2003 Dec;127(12):1565-72. doi: 10.5858/2003-127-1565-BSTFDO. Arch Pathol Lab Med. 2003. PMID: 14632577 Free article.

8

Association between conformational mutations in neuroserpin and onset and severity of dementia.

Davis RL, Shrimpton AE, Carrell RW, Lomas DA, Gerhard L, Baumann B, Lawrence DA, Yepes M, Kim TS, Ghetti B, Piccardo P, Takao M, Lacbawan F, Muenke M, Sifers RN, Bradshaw CB, Kent PF, Collins GH, Larocca D, Holohan PD. Davis RL, et al. Among authors: shrimpton ae. Lancet. 2002 Jun 29;359(9325):2242-7. doi: 10.1016/S0140-6736(02)09293-0. Lancet. 2002. PMID: 12103288

9

Molecular diagnosis of cystic fibrosis.

Shrimpton AE. Shrimpton AE. Expert Rev Mol Diagn. 2002 May;2(3):240-56. doi: 10.1586/14737159.2.3.240. Expert Rev Mol Diagn. 2002. PMID: 12050863 Review.

10

Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.

Hicks K, Beadling W, Shrimpton AE. Hicks K, et al. Among authors: shrimpton ae. Genet Test. 2003 Spring;7(1):73-6. doi: 10.1089/109065703321560985. Genet Test. 2003. PMID: 12820707

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