Pont-Kingdon G - Search Results

1

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. Swensen JJ, et al. Among authors: pont kingdon g. Blood. 2010 Oct 14;116(15):2822-5. doi: 10.1182/blood-2010-05-284331. Epub 2010 Jul 1. Blood. 2010. PMID: 20595515 Free article.

2

Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci.

Pont-Kingdon G, Lyon E. Pont-Kingdon G, et al. Clin Chem. 2003 Jul;49(7):1087-94. doi: 10.1373/49.7.1087. Clin Chem. 2003. PMID: 12816905

3

Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example.

Pont-Kingdon G, Lyon E. Pont-Kingdon G, et al. Nucleic Acids Res. 2005 Jun 3;33(10):e89. doi: 10.1093/nar/gni090. Nucleic Acids Res. 2005. PMID: 15937194 Free PMC article.

4

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. 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.

5

Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene.

Pont-Kingdon G, Jama M, Miller C, Millson A, Lyon E. Pont-Kingdon G, et al. J Mol Diagn. 2004 Aug;6(3):264-70. doi: 10.1016/S1525-1578(10)60520-X. J Mol Diagn. 2004. PMID: 15269305 Free PMC article.

6

Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes.

Millson A, Pont-Kingdon G, Page S, Lyon E. Millson A, et al. Clin Chem. 2005 Sep;51(9):1619-23. doi: 10.1373/clinchem.2005.052159. Epub 2005 Jul 14. Clin Chem. 2005. PMID: 16020494

7

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. Sumner K, et al. Among authors: pont kingdon g. J Mol Diagn. 2014 Sep;16(5):477-480. doi: 10.1016/j.jmoldx.2014.04.005. Epub 2014 Jul 9. J Mol Diagn. 2014. PMID: 25017792 Free article.

8

The Alport syndrome COL4A5 variant database.

Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E. Crockett DK, et al. Among authors: pont kingdon g. Hum Mutat. 2010 Aug;31(8):E1652-7. doi: 10.1002/humu.21312. Hum Mutat. 2010. PMID: 20574986

9

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. Pont-Kingdon G, et al. Biotechniques. 2007 Feb;42(2):193-7. doi: 10.2144/000112330. Biotechniques. 2007. PMID: 17373484 Free article.

10

Molecular testing for adult type Alport syndrome.

Pont-Kingdon G, Sumner K, Gedge F, Miller C, Denison J, Gregory M, Lyon E. Pont-Kingdon G, et al. BMC Nephrol. 2009 Nov 17;10:38. doi: 10.1186/1471-2369-10-38. BMC Nephrol. 2009. PMID: 19919694 Free PMC article.

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