SEARCH

SEARCH BY CITATION

REFERENCES

  • Ahmadian A, Lundeberg J, Nyren P, Uhlen M, Ronaghi M. 2000. Analysis of the p53 tumor suppressor gene by pyrosequencing. Biotechniques 28:140144; 146–147.
  • Ahmadian A, Ehn M, Hober S. 2006. Pyrosequencing: history, biochemistry and future. Clin Chim Acta 363:8394.
  • Amedei A, Romagnani C, Benagiano M, Azzurri A, Fomia F, Torrente F, Plebani A, D'Elios MM, Del Prete G. 2001. Preferential Th1 profile of T helper cell responses in X-linked (Bruton's) agammaglobulinemia. Eur J Immunol 31:19271934.
  • Aoshima M, Nunoi H, Shimazu M, Shimizu S, Tatsuzawa O, Kenney RT, Kanegasaki S. 1996. Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease. Blood 88:18411845.
  • Bai X, Li Z, Jockusch S, Turro NJ, Ju J. 2003. Photocleavage of a 2-nitrobenzyl linker bridging a fluorophore to the 5′ end of DNA. Proc Natl Acad Sci USA 100:409413.
  • Balogh K, Patocs A, Majnik J, Racz K, Hunyady L. 2004. Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1. Mol Genet Metab 83:7481.
  • Bonilla FA, Geha RS. 2006. 2. Update on primary immunodeficiency diseases. J Allergy Clin Immunol 117:S435S441.
  • Buckley RH. 2006. Primary immunodeficiency or not? Making the correct diagnosis. J Allergy Clin Immunol 117:756758.
  • Chee M, Yang R, Hubbell E, Berno A, Huang XC, Stern D, Winkler J, Lockhart DJ, Morris MS, Fodor SP. 1996. Accessing genetic information with high-density DNA arrays. Science 274:610614.
  • Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J. 1998. Mutations in Btk in patients with presumed X-linked agammaglobulinemia. Am J Hum Genet 62:10341043.
  • Conley ME, Notarangelo LD, Etzioni A. 1999. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 93:190197.
  • Cotton RGH. 1997. Mutation detection. New York: Oxford University Press. p 32127.
  • Cowie S, Drmanac S, Swanson D, Delgrosso K, Huang S, du Sart D, Drmanac R, Surrey S, Fortina P. 2004. Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization. Hum Mutat 24:261271.
  • Cross AR, Heyworth PG, Rae J, Curnutte JT. 1995. A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b. J Biol Chem 270:81948200.
  • Derry JM, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U. 1995. WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet 4:11271135.
  • Drmanac R, Strezoska S, Paunesku Z, Labat T, Zeremski I, Snoddy M, Funkhouser J, Koop WK, Hood BL. 1993. DNA sequence determination by hybridization: a strategy for efficient large-scale sequencing. Science 260:16491652.
  • Ferrante A, Rowan-Kelly B, Beard LJ, Maxwell GM. 1986. An enzyme-linked immunosorbent assay for the quantitation of human IgG subclasses using monoclonal antibodies. J Immunol Methods 93:207212.
  • Ganguly A, Rock MJ, Prockop DJ. 1993. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:1032510329.
  • Ganguly A. 2002. An update on conformation sensitive gel electrophoresis. Hum Mutat 19:334342.
  • Garcia CA, Ahmadian A, Gharizadeh B, Lundeberg J, Ronaghi M, Nyren P. 2000. Mutation detection by pyrosequencing: sequencing of exons 5–8 of the p53 tumor suppressor gene. Gene 253:249257.
  • Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, Fodor SP, Tagle DA, Collins FS. 1998. Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res 8:12451258.
  • Hayashi K, Yandell DW. 1993. How sensitive is PCR-SSCP? Hum Mutat 2:338346.
  • Henderson BG, Wenham PR, Ashby JP, Blundell G. 1997. Detecting familial defective apolipoprotein B-100: three molecular scanning methods compared. Clin Chem 43:16301634.
  • Highsmith WE Jr, Jin Q, Nataraj AJ, O'Connor JM, Burland VD, Baubonis WR, Curtis FP, Kusukawa N, Garner MM. 1999. Use of a DNA toolbox for the characterization of mutation scanning methods. I: Construction of the toolbox and evaluation of heteroduplex analysis. Electrophoresis 20:11861194.
  • Huber CG, Oefner PJ, Preuss E, Bonn GK. 1993. High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles. Nucleic Acids Res 21:10611066.
  • Humphries SE, Gudnason V, Whittall R, Day IN. 1997. Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques. Clin Chem 43:427435.
  • Illoh OC. 2004. Current applications of flow cytometry in the diagnosis of primary immunodeficiency diseases. Arch Pathol Lab Med 128:2331.
  • Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, Fleisher TA. 2003. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol 111:374379.
  • Karaman MW, Groshen S, Lee CC, Pike BL, Hacia JG. 2005. Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays. Nucleic Acids Res 33:e33.
  • Kondoh T, Matsumoto T, Tsuji Y. 1997. Wiskott-Aldrich syndrome in two sisters. Am J Med Genet 74:218219.
  • Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, Fitzhugh W. et al. 2001. Initial sequencing and analysis of the human genome. Nature 409:860921.
  • Law JC, Facher EA, Deka A. 1996. Nonradioactive single-strand conformation polymorphism analysis with application for mutation detection in a mixed population of cells. Anal Biochem 236:373375.
  • Lee HH, Lo WJ, Choo KB. 1992. Mutational analysis by a combined application of the multiple restriction fragment-single strand conformation polymorphism and the direct linear amplification DNA sequencing protocols. Anal Biochem 205:289293.
  • Liechti-Gallati S, Schneider V, Neeser D, Kraemer R. 1999. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur J Hum Genet 7:590598.
  • Li Z, Bai X, Ruparel H, Kim S, Turro NJ, Ju J. 2003. A photocleavable fluorescent nucleotide for DNA sequencing and analysis. Proc Natl Acad Sci USA 100:414419.
  • Liu Q, Feng J, Sommer SS. 1996. Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp. Hum Mol Genet 5:107114.
  • Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. 2005. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci 46:33553362.
  • Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen Z, Dewell SB, Du L, Fierro JM, Gomes XV, Godwin BC, He W, Helgesen S, Ho CH, Irzyk GP, Jando SC, Alenquer ML, Jarvie TP, Jirage KB, Kim JB, Knight JR, Lanza JR, Leamon JH, Lefkowitz SM, Lei M, Li J, Lohman KL, Lu H, Makhijani VB, McDade KE, McKenna MP, Myers EW, Nickerson E, Nobile JR, Plant R, Puc BP, Ronan MT, Roth GT, Sarkis GJ, Simons JF, Simpson JW, Srinivasan M, Tartaro KR, Tomasz A, Vogt KA, Volkmer GA, Wang SH, Wang Y, Weiner MP, Yu P, Begley RF, Rothberg JM. 2005. Genome sequencing in microfabricated high-density picolitre reactors. Nature 437:376380.
  • Mockler TC, Chan S, Sundaresan A, Chen H, Jacobsen SE, Ecker JR. 2005. Applications of DNA tiling arrays for whole-genome analysis. Genomics 85:115.
  • Mogensen J, Bahl A, Kubo T, Elanko N, Taylor R, McKenna WJ. 2003. Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. J Med Genet 40:e59.
  • Morelli A, Falchetti A, Martineti V, Becherini L, Mark M, Friedman E, Brandi ML. 2000. MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. Eur J Endocrinol 142:131137.
  • Murphy KM, Geiger T, Hafez MJ, Eshleman JR, Griffin CA, Berg KD. 2003. A single nucleotide primer extension assay to detect the APC I1307 K gene variant. J Mol Diagn 5:222226.
  • Nagamine CM, Chan K, Lau YF. 1989. A PCR artifact: generation of heteroduplexes. Am J Hum Genet 45:337339.
  • Nataraj AJ, Olivos-Glander I, Kusukawa N, Highsmith WE, Jr. 1999. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection. Electrophoresis 20:11771185.
  • Nollau P, Wagener C. 1997. Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques. Clin Chem 43:11141128.
  • Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. 2006. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol 117:883896.
  • O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P. 1998. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52:4449.
  • Oefner PJ, Underhill PA. 1995. Comparative DNA sequencing by denaturing high-performance liquid chromatography (dHPLC). Am J Hum Genet 57:A266.
  • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. 1989. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:27662770.
  • Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY, Lee MS, Lee MK, Moon SD, Park JG. 2003. Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Clin Genet 64:4853.
  • Patino PJ, Perez JE, Lopez JA, Condino-Neto A, Grumach AS, Botero JH, Curnutte JT, Garcia de Olarte D. 1999. Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. Hum Mutat 13:2937.
  • Piirilä H, Väliaho J, Vihinen M. 2006. Immunodeficiency mutation databases (IDbases). Hum Mutat 27:12001208.
  • Ronaghi M. 2001. Pyrosequencing sheds light on DNA sequencing. Genome Res 11:311.
  • Ronaghi M, Karamohamed S, Pettersson B, Uhlen M, Nyren P. 1996. Real-time DNA sequencing using detection of pyrophosphate release. Anal Biochem 242:8489.
  • Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H. 1996. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood. 87:16631681.
  • Roos A, Dieltjes P, Vossen RH, Daha MR, de Knijff P. 2006. Detection of three single nucleotide polymorphisms in the gene encoding mannose-binding lectin in a single pyrosequencing reaction. J Immunol Methods 309:108114.
  • Rossetti S, Corra S, Biasi MO, Turco AE, Pignatti PF. 1995. Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genes. Mol Cell Probes 9:195200.
  • Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. 1986. Cloning the gene for an inherited human disorder-chronic granulomatous disease on the basis of its chromosomal location. Nature 322:3238.
  • Ruparel H, Bi L, Li Z, Bai X, Kim DH, Turro NJ, Ju J. 2005. Design and synthesis of a 3′-O-allyl photocleavable fluorescent nucleotide as a reversible terminator for DNA sequencing by synthesis. Proc Natl Acad Sci USA 102:59325937.
  • Sakharkar MK, Perumal BS, Sakharkar KR, Kangueane P. 2005. An analysis on gene architecture in human and mouse genomes. In Silico Biol 5:347365.
  • Sanger F, Nicklen S, Coulson AR. 1977. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:54635467.
  • Schirinzi A, Drmanac S Dallapiccola B, Huang S, Scott K, de Luca A, Swanson D, Drmanac R, Surrey S, Fortina P. 2006. Combinatorial sequencing-by-hybridization: analysis of the NF1 gene. Genetic Testing 10:817.
  • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. 1993. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325332.
  • Shendure J, Porreca GJ, Reppas NB, Lin X, McCutcheon JP, Rosenbaum AM, Wang MD, Zhang K, Mitra RD, Church GM. 2005. Accurate multiplex polony sequencing of an evolved bacterial genome. Science 309:17281732.
  • Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. 2003. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577581.
  • Sunnucks P, Wilson AC, Beheregaray LB, Zenger K, French J, Taylor AC. 2000. SSCP is not so difficult: the application and utility of single-stranded conformation polymorphism in evolutionary biology and molecular ecology. Mol Ecol 9:16991710.
  • Syvänen AC. 1999. From gels to chips: “Minisequencing” primer extension for analysis of point mutations and single nucleotide polymorphisms. Hum Mutat 13:110.
  • Tengs T, Lee JC, Guillermo Paez J, Zhao X, Laframboise T, Giannoukos G, Thomas RK. 2006. A transforming MET mutation discovered in non-small cell lung cancer using microarray-based resequencing. Cancer Lett 239:227233.
  • Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, Lambert SM, Wu PP, Wang Y, Spoonde AY, Koehler RT, Peyret N, Chen C, Broomer AJ, Ridzon DA, Zhou H, Hoo BS, Hayashibara KC, Leong LN, Ma CN, Rosenblum BB, Day JP, Ziegle JS, De La Vega FM, Rhodes MD, Hennessy KM, Wenz HM. 2005. The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. J Biomol Tech 16:398406.
  • Turner MW, Hamvas RM. 2000. Mannose-binding lectin: structure, function, genetics and disease associations. Rev Immunogenet 2:305322.
  • Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA. et al. 2001. The sequence of the human genome. Science 291:13041351.
  • Vorechovsky I, Vihinen M, de Saint Basile G, Honsova S, Hammarstrom L, Muller S, Nilsson L, Fischer A, Smith CI. 1995. DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Hum Mol Genet 4:5158.
  • Warrington JA, Shah NA, Chen X, Janis M, Liu C, Kondapalli S, Reyes V, Savage MP, Zhang Z, Watts R, DeGuzman M, Berno A, Snyder J, Baid J. 2002. New developments in high-throughput resequencing and variation detection using high density microarrays. Hum Mutat 19:402409.
  • Wilson DI, Burn J, Scambler P, Goodship J. 1993. DiGeorge syndrome: part of CATCH 22. J Med Genet 30:852856.
  • Wolach B, Ash S, Gavrieli R, Stark B, Yaniv I, Roos D. 2005. Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report. Am J Hematol. 80:5054.
  • Wong CW, Albert TJ, Vega VB, Norton JE, Cutler DJ, Richmond TA, Stanton LW, Liu ET, Miller LD. 2004. Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays. Genome Res 14:398405.
  • Xiao W, Oefner PJ. 2001. Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439474.
  • Zhang K, Zhu J, Shendure J, Porreca GJ, Aach JD, Mitra RD, Church GM. 2006 Long-range polony haplotyping of individual human chromosome molecules. Nat Genet 38:382387.
  • Zicha D, Dunn GA, Segal AW. 1997. Deficiency of p67phox, p47phox or gp91phox in chronic granulomatous disease does not impair leucocyte chemotaxis or motility. Br J Haematol 96:543550.
  • Zwick ME, McAfee F, Cutler DJ, Read TD, Ravel J, Bowman GR, Galloway DR, Mateczun A. 2005. Microarray-based resequencing of multiple Bacillus anthracis isolates. Genome Biol 6:R10.