Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 33

1.

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.

Millson A, Lewis T, Pesaran T, Salvador D, Gillespie K, Gau CL, Pont-Kingdon G, Lyon E, Bayrak-Toydemir P.

J Mol Diagn. 2015 Sep;17(5):576-82. doi: 10.1016/j.jmoldx.2015.05.005. Epub 2015 Jul 10.

PMID:
26165824
2.

Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

Sumner K, Swensen JJ, Procter M, Jama M, Wooderchak-Donahue W, Lewis T, Fong M, Hubley L, Schwarz M, Ha Y, Paul E, Brulotte B, Lyon E, Bayrak-Toydemir P, Mao R, Pont-Kingdon G, Best DH.

J Mol Diagn. 2014 Sep;16(5):477-480. doi: 10.1016/j.jmoldx.2014.04.005. Epub 2014 Jul 9.

PMID:
25017792
3.

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

International Alport Mutation Consortium, Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H.

Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Review.

PMID:
23720012
4.

Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.

Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E.

Genet Test Mol Biomarkers. 2012 Jul;16(7):656-60. doi: 10.1089/gtmb.2011.0204. Epub 2012 Feb 24.

PMID:
22364140
5.

Design and analytical validation of clinical DNA sequencing assays.

Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E; Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists.

Arch Pathol Lab Med. 2012 Jan;136(1):41-6. doi: 10.5858/arpa.2010-0623-OA.

PMID:
22208486
6.

Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.

Wooderchak-Donahue W, Vaughn C, Chou LS, Lewis T, Sumner K, Procter M, Gedge F, Bayrak-Toydemir P, Lyon E, Pont-Kingdon G.

Genet Test Mol Biomarkers. 2011 Nov;15(11):793-9. doi: 10.1089/gtmb.2011.0051. Epub 2011 Jun 20.

PMID:
21689003
7.

Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.

Swensen JJ, Agarwal AM, Esquilin JM, Swierczek S, Perumbeti A, Hussey D, Lee M, Joiner CH, Pont-Kingdon G, Lyon E, Prchal JT.

Blood. 2010 Oct 14;116(15):2822-5. doi: 10.1182/blood-2010-05-284331. Epub 2010 Jul 1.

8.

The Alport syndrome COL4A5 variant database.

Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E.

Hum Mutat. 2010 Aug;31(8):E1652-7. doi: 10.1002/humu.21312.

PMID:
20574986
9.

Molecular testing for adult type Alport syndrome.

Pont-Kingdon G, Sumner K, Gedge F, Miller C, Denison J, Gregory M, Lyon E.

BMC Nephrol. 2009 Nov 17;10:38. doi: 10.1186/1471-2369-10-38.

10.

Lack of association between beta 2-adrenergic receptor polymorphisms and juvenile idiopathic arthritis.

Pont-Kingdon G, Bohnsack J, Sumner K, Whiting A, Clifford B, Guthery SS, Jorde LB, Lyon E, Prahalad S.

Scand J Rheumatol. 2009 Mar-Apr;38(2):91-5. doi: 10.1080/03009740802541488.

11.

Design and application of noncontinuously binding probes used for haplotyping and genotyping.

Pont-Kingdon G, Margraf RL, Sumner K, Millson A, Lyon E, Sch├╝tz E.

Clin Chem. 2008 Jun;54(6):990-9. doi: 10.1373/clinchem.2007.100487. Epub 2008 Apr 10.

12.

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.

J Mol Diagn. 2007 Nov;9(5):618-23. Epub 2007 Sep 20. Erratum in: J Mol Diagn. 2009 May;10(3):276. Pont-Kingdon, Genevieve [added].

13.

Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting.

Seipp MT, Durtschi JD, Liew MA, Williams J, Damjanovich K, Pont-Kingdon G, Lyon E, Voelkerding KV, Wittwer CT.

J Mol Diagn. 2007 Jul;9(3):284-9.

14.

Multiplex genotyping by melting analysis of loci-spanning probes: beta-globin as an example.

Pont-Kingdon G, Chou LS, Damjanovich K, Sumner K, Herrmann M, Erali M, Lyon E.

Biotechniques. 2007 Feb;42(2):193-7.

PMID:
17373484
15.

Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.

Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT.

Clin Chem. 2005 Nov;51(11):2156-9. No abstract available.

16.
19.

Creation of chimeric junctions, deletions, and insertions by PCR.

Pont-Kingdon G.

Methods Mol Biol. 2003;226:511-6. No abstract available.

PMID:
12958538
22.

Mitochondrial DNA of Hydra attenuata (Cnidaria): a sequence that includes an end of one linear molecule and the genes for l-rRNA, tRNA(f-Met), tRNA(Trp), COII, and ATPase8.

Pont-Kingdon G, Vassort CG, Warrior R, Okimoto R, Beagley CT, Wolstenholme DR.

J Mol Evol. 2000 Oct;51(4):404-15.

PMID:
11040292
23.

Target specificity of the endonuclease from the Xenopus laevis non-long terminal repeat retrotransposon, Tx1L.

Christensen S, Pont-Kingdon G, Carroll D.

Mol Cell Biol. 2000 Feb;20(4):1219-26.

24.

Definition of the human N-myc promoter region during development in a transgenic mouse model.

Tai KF, Rogers SW, Pont-Kingdon G, Carroll WL.

Pediatr Res. 1999 Sep;46(3):255-62.

PMID:
10473038
25.

RNA expression from a site-specific non-LTR retrotransposon microinjected into Xenopus oocytes.

Pont-Kingdon G, Chi E, Christensen S, Carroll D.

Genetica. 1998;104(1):67-76.

PMID:
9949703
26.

A novel intron element operates posttranscriptionally To regulate human N-myc expression.

Sivak LE, Pont-Kingdon G, Le K, Mayr G, Tai KF, Stevens BT, Carroll WL.

Mol Cell Biol. 1999 Jan;19(1):155-63.

27.

Mitochondrial DNA of the coral Sarcophyton glaucum contains a gene for a homologue of bacterial MutS: a possible case of gene transfer from the nucleus to the mitochondrion.

Pont-Kingdon G, Okada NA, Macfarlane JL, Beagley CT, Watkins-Sims CD, Cavalier-Smith T, Clark-Walker GD, Wolstenholme DR.

J Mol Evol. 1998 Apr;46(4):419-31.

PMID:
9541536
28.

Ribonucleoprotein formation by the ORF1 protein of the non-LTR retrotransposon Tx1L in Xenopus oocytes.

Pont-Kingdon G, Chi E, Christensen S, Carroll D.

Nucleic Acids Res. 1997 Aug 1;25(15):3088-94.

29.

Creation of chimeric junctions, deletions, and insertions by PCR.

Pont-Kingdon G.

Methods Mol Biol. 1997;67:167-72. No abstract available.

PMID:
9031140
30.

A coral mitochondrial mutS gene.

Pont-Kingdon GA, Okada NA, Macfarlane JL, Beagley CT, Wolstenholme DR, Cavalier-Smith T, Clark-Walker GD.

Nature. 1995 May 11;375(6527):109-11. No abstract available.

PMID:
7753165
32.

Construction of chimeric molecules by a two-step recombinant PCR method.

Pont-Kingdon G.

Biotechniques. 1994 Jun;16(6):1010-1. No abstract available. Erratum in: Biotechniques 1995 Apr;18(4):636.

PMID:
8074861

Supplemental Content

Loading ...
Support Center