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DHPLC Publication List (sorted by categories)

The DHPLC publication list is also available sorted by publication year

small bullet The Method small bullet Single Nucleotide Extension Sequencing and DHPLC
small bullet Sensitivity and Specificity small bullet DNA/RNA Purification
small bullet Mutational Analysis of Candidate Genes small bullet Mass Spectrometry and DHPLC
small bullet BRCA1 & BRCA2 small bullet Quantitation of Gene Expression by DHPLC
small bullet Tuberous Sclerosis small bullet Related Papers
small bullet Mapping and Positional Cloning small bullet Miscellaneous
small bullet Reverse Genetics small bullet Molecular Fingerprinting of Microorganisms
small bullet Human Evolution, Y-Chromosome small bullet DNA Methylation Analysis
   

The references below are hyper-linked to their abstract via PubMed or, whenever possible, directly to the journal. (Access to journals may require membership or subscription).

Please, forward new citations for inclusion in this list to oefner#genome.stanford.edu

 
Tuberous Sclerosis
  1. Choy, Y.S., Dabora, S.L., Hall, F., Ramesh, V., Niida, Y., Franz, D., Kasprzyk-Obara, J., Reeve, M.P., Kwiatkowski, D.J. (1999) Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann. Hum. Genet. 63:383-391

  2. Jones, A.C., Sampson, J.R., Hoogendoorn, B., Cohen, D., Cheadle, J.P. (2000) Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum. Genet. 106(6):663-668.

  3. Benit, P., Kara-Mostefa, A., Berthelon, M., Sengmany, K., Munnich, A., Bonnefont, J.P. (2000) Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography. Hum. Mutat. 16(5):417-421.

  4. Roberts, P.S., Jozwiak, S., Kwiatkowski, D.J., Dabora, S.L. (2001) Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. J Biochem. Biophys. Meth. Jan;47(1-2):33-37

  5. Jones AC, Sampson JR, Cheadle JP. (2001) Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat., 17(3):233-4

  6. Dabora, S.L., Jozwiak, S., Franz, D.N., Roberts, P.S., Nieto, A., Chung, J., Choy, Y.S., Reeve, M.P., Thiele, E., Egelhoff, J.C., Kasprzyk-Obara, J., Domanska-Pakiela, D., and Kwiatkowski, D.J. (2001). Mutational Analysis in a cohort of 224 Tuberous Sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am. J. Hum. Genet. 68, 64-80.

  7. Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX. (2001). Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am. J. Respir. Crit. Care Med. 164, 661-668.
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