molecular diagnostic techniques


Summary: MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Included are such techniques as IN SITU HYBRIDIZATION of chromosomes for CYTOGENETIC ANALYSIS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS of gene expression patterns in disease states; identification of pathogenic organisms by analysis of species specific DNA sequences; and detection of mutations with POLYMERASE CHAIN REACTION.

Top Publications

  1. ncbi Molecular methods used in clinical laboratory: prospects and pitfalls
    Muhammad G Morshed
    B C Centre for Disease Control, Vancouver, BC, Canada
    FEMS Immunol Med Microbiol 49:184-91. 2007
  2. pmc Xpert MTB/RIF: a new pillar in diagnosis of extrapulmonary tuberculosis?
    Viral Vadwai
    PD Hinduja National Hospital and Medical Research Centre, Mahim, Mumbai, India
    J Clin Microbiol 49:2540-5. 2011
  3. pmc Evaluation of the Cepheid Xpert MTB/RIF assay for direct detection of Mycobacterium tuberculosis complex in respiratory specimens
    Elizabeth M Marlowe
    Kaiser Permanente, SCPMG Regional Reference Labs, 11668 Sherman Way, North Hollywood, CA 91605, USA
    J Clin Microbiol 49:1621-3. 2011
  4. pmc Detection of respiratory viruses by molecular methods
    James B Mahony
    Regional Virology Laboratory, St Joseph s Healthcare Hamilton, Hamilton, Ontario, Canada
    Clin Microbiol Rev 21:716-47. 2008
  5. ncbi Toward practical, DNA-based diagnostic methods for parasitic nematodes of livestock--bionomic and biotechnological implications
    Robin B Gasser
    Department of Veterinary Science, The University of Melbourne, Werribee, Victoria 3030, Australia
    Biotechnol Adv 26:325-34. 2008
  6. ncbi New technology for rapid molecular diagnosis of bloodstream infections
    David J Ecker
    Ibis Biosciences, a subsidiary of Abbott Molecular, Inc, 2251 Faraday Ave, Carlsbad, CA 92008, USA
    Expert Rev Mol Diagn 10:399-415. 2010
  7. pmc Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    Murim Choi
    Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
    Proc Natl Acad Sci U S A 106:19096-101. 2009
  8. ncbi New tools and emerging technologies for the diagnosis of tuberculosis: part I. Latent tuberculosis
    Madhukar Pai
    University of California, Berkeley and San Francisco, Berkeley Division of Epidemiology, 140, Warren Hall, Berkeley, CA 94720, USA
    Expert Rev Mol Diagn 6:413-22. 2006
  9. pmc Diagnostic accuracy of PCR in gambiense sleeping sickness diagnosis, staging and post-treatment follow-up: a 2-year longitudinal study
    Stijn Deborggraeve
    Department of Parasitology, Institute of Tropical Medicine, Antwerp, Belgium
    PLoS Negl Trop Dis 5:e972. 2011
  10. pmc Cepheid GeneXpert MTB/RIF assay for Mycobacterium tuberculosis detection and rifampin resistance identification in patients with substantial clinical indications of tuberculosis and smear-negative microscopy results
    Panayotis Ioannidis
    National Reference Laboratory for Mycobacteria NRLM, SOTIRIA Chest Diseases Hospital, Mesogion 152, 11527 Athens, Greece
    J Clin Microbiol 49:3068-70. 2011

Research Grants

Detail Information

Publications277 found, 100 shown here

  1. ncbi Molecular methods used in clinical laboratory: prospects and pitfalls
    Muhammad G Morshed
    B C Centre for Disease Control, Vancouver, BC, Canada
    FEMS Immunol Med Microbiol 49:184-91. 2007
  2. pmc Xpert MTB/RIF: a new pillar in diagnosis of extrapulmonary tuberculosis?
    Viral Vadwai
    PD Hinduja National Hospital and Medical Research Centre, Mahim, Mumbai, India
    J Clin Microbiol 49:2540-5. 2011
    ..In conclusion, the results of this study suggest that the Xpert test also shows good potential for the diagnosis of extrapulmonary TB and that its ease of use makes it applicable for countries where TB is endemic...
  3. pmc Evaluation of the Cepheid Xpert MTB/RIF assay for direct detection of Mycobacterium tuberculosis complex in respiratory specimens
    Elizabeth M Marlowe
    Kaiser Permanente, SCPMG Regional Reference Labs, 11668 Sherman Way, North Hollywood, CA 91605, USA
    J Clin Microbiol 49:1621-3. 2011
    ..Overall agreement compared to culture was 89% (98% for smear positives and 72% for smear negatives) for detection of Mycobacterium tuberculosis...
  4. pmc Detection of respiratory viruses by molecular methods
    James B Mahony
    Regional Virology Laboratory, St Joseph s Healthcare Hamilton, Hamilton, Ontario, Canada
    Clin Microbiol Rev 21:716-47. 2008
  5. ncbi Toward practical, DNA-based diagnostic methods for parasitic nematodes of livestock--bionomic and biotechnological implications
    Robin B Gasser
    Department of Veterinary Science, The University of Melbourne, Werribee, Victoria 3030, Australia
    Biotechnol Adv 26:325-34. 2008
    ..The advances made in recent years provide a solid foundation for the development of practical, highly sensitive and specific diagnostic tools for epidemiological investigations and for use in control programmes...
  6. ncbi New technology for rapid molecular diagnosis of bloodstream infections
    David J Ecker
    Ibis Biosciences, a subsidiary of Abbott Molecular, Inc, 2251 Faraday Ave, Carlsbad, CA 92008, USA
    Expert Rev Mol Diagn 10:399-415. 2010
    ..We then focus on a new method that combines nucleic acid amplification with mass spectrometry in a novel approach to molecular diagnosis of bloodstream infections...
  7. pmc Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    Murim Choi
    Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
    Proc Natl Acad Sci U S A 106:19096-101. 2009
    ..These results demonstrate the clinical utility of whole-exome sequencing and have implications for disease gene discovery and clinical diagnosis...
  8. ncbi New tools and emerging technologies for the diagnosis of tuberculosis: part I. Latent tuberculosis
    Madhukar Pai
    University of California, Berkeley and San Francisco, Berkeley Division of Epidemiology, 140, Warren Hall, Berkeley, CA 94720, USA
    Expert Rev Mol Diagn 6:413-22. 2006
    ..The review concludes by highlighting areas where evidence is lacking, and provides an agenda for future research. Active TB and drug resistance are discussed in Part II; 423-432 of this issue...
  9. pmc Diagnostic accuracy of PCR in gambiense sleeping sickness diagnosis, staging and post-treatment follow-up: a 2-year longitudinal study
    Stijn Deborggraeve
    Department of Parasitology, Institute of Tropical Medicine, Antwerp, Belgium
    PLoS Negl Trop Dis 5:e972. 2011
    ..The polymerase chain reaction (PCR) has been proposed for diagnosis, staging and post-treatment follow-up of sleeping sickness but no large-scale clinical evaluations of its diagnostic accuracy have taken place yet...
  10. pmc Cepheid GeneXpert MTB/RIF assay for Mycobacterium tuberculosis detection and rifampin resistance identification in patients with substantial clinical indications of tuberculosis and smear-negative microscopy results
    Panayotis Ioannidis
    National Reference Laboratory for Mycobacteria NRLM, SOTIRIA Chest Diseases Hospital, Mesogion 152, 11527 Athens, Greece
    J Clin Microbiol 49:3068-70. 2011
    ..The GeneXpert assay was highly effective for tuberculosis diagnosis and identification of rifampin-resistant strains in smear-negative samples...
  11. pmc Real-time fluorescence loop mediated isothermal amplification for the diagnosis of malaria
    Naomi W Lucchi
    Malaria Branch, Division of Parasitic Diseases and Malaria, Center for Global Health, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America
    PLoS ONE 5:e13733. 2010
    ..We refer to this as the RealAmp method...
  12. pmc Comparison of the Xpert MTB/RIF test with an IS6110-TaqMan real-time PCR assay for direct detection of Mycobacterium tuberculosis in respiratory and nonrespiratory specimens
    Sylvie Armand
    CHU Lille, F 59000 Lille, France
    J Clin Microbiol 49:1772-6. 2011
  13. pmc Development of a highly sensitive genus-specific quantitative reverse transcriptase real-time PCR assay for detection and quantitation of plasmodium by amplifying RNA and DNA of the 18S rRNA genes
    Edwin Kamau
    Division of Malaria Vaccine Development, Center for Molecular Diagnostics and Genomic Studies, Walter Reed Army Institute of Research, 503 Robert Grant Ave, Silver Spring, MD, USA
    J Clin Microbiol 49:2946-53. 2011
  14. pmc First international external quality assessment study on molecular and serological methods for yellow fever diagnosis
    Cristina Domingo
    Centre for Biological Security, Robert Koch Institute, Berlin, Germany
    PLoS ONE 7:e36291. 2012
    ..We describe an external quality assurance (EQA) study designed to assess the efficiency and accurateness of molecular and serological methods used by expert laboratories performing YF diagnosis...
  15. pmc Local transmission of imported endemic syphilis, Canada, 2011
    Sergio Fanella
    University of Manitoba, Winnipeg, Manitoba, Canada
    Emerg Infect Dis 18:1002-4. 2012
    ..Improved molecular tools and global clinical awareness are needed to recognize cases of endemic syphilis imported to areas where it is not normally seen...
  16. ncbi Plasmodium falciparum parasite infection prevalence from a household survey in Zambia using microscopy and a rapid diagnostic test: implications for monitoring and evaluation
    Joseph Keating
    Department of International Health and Development, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, 70112, United States of America
    Acta Trop 112:277-82. 2009
    ..These data suggest microscopy should remain the gold standard for estimating malaria parasite point prevalence from household surveys for monitoring and evaluation purposes...
  17. pmc Comparison of three multiplex PCR assays for the detection of respiratory viral infections: evaluation of xTAG respiratory virus panel fast assay, RespiFinder 19 assay and RespiFinder SMART 22 assay
    Mareike Dabisch-Ruthe
    Institut fur Laboratoriums und Transfusionsmedizin, Herz und Diabeteszentrum Nordrhein Westfalen, Universitatsklinik der Ruhr Universitat Bochum, Bad Oeynhausen, Germany
    BMC Infect Dis 12:163. 2012
    ..Therefore, the identification of the causative viruses and bacteria is only feasible using multiplex PCR or several monoplex PCR tests in parallel...
  18. pmc Performance of the GeneXpert CT/NG assay compared to that of the Aptima AC2 assay for detection of rectal Chlamydia trachomatis and Neisseria gonorrhoeae by use of residual Aptima Samples
    S D Goldenberg
    Centre for Clinical Infection and Diagnostics Research, Guy s and St Thomas NHS Foundation Trust and King s College, London, United Kingdom
    J Clin Microbiol 50:3867-9. 2012
    ..trachomatis and N. gonorrhoeae were 86%, 99.2%, 92.5%, and 98.4% and 91.1%, 100%, 100%, and 98.6%, respectively. Despite significant dilution of samples prior to GeneXpert testing, the assay performed well with excellent specificity...
  19. pmc Molecular diagnostics for autosomal dominant polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension and Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Nat Rev Nephrol 6:197-206. 2010
    ..In the future, when effective therapies are developed for ADPKD, molecular testing may become increasingly widespread. Rapid developments in DNA sequencing may also revolutionize testing...
  20. pmc Development of a respiratory virus panel test for detection of twenty human respiratory viruses by use of multiplex PCR and a fluid microbead-based assay
    J Mahony
    Department of Pathology and Molecular Medicine, McMaster University, and St Joseph s Healthcare, Hamilton, Ontario, Canada
    J Clin Microbiol 45:2965-70. 2007
  21. ncbi Improved LNA probe-based assay for the detection of African and South American yellow fever virus strains
    Manfred Weidmann
    University Medical Center, Department of Virology, Kreuzbergring 57, 37075 Gottingen, Germany
    J Clin Virol 48:187-92. 2010
    ..Real-time assays for Yellow fever virus (YFV) would help to improve acute diagnostics in outbreak investigations...
  22. pmc Molecular methods and platforms for infectious diseases testing a review of FDA-approved and cleared assays
    Rajyasree Emmadi
    Department of Pathology, University of Illinois at Chicago, Chicago, IL, USA
    J Mol Diagn 13:583-604. 2011
    ..The information presented in this review will be particularly useful for laboratories that plan to implement or expand their molecular offerings in the near term...
  23. pmc Evaluation of the Cobas TaqMan MTB test for direct detection of Mycobacterium tuberculosis complex in respiratory specimens
    Yuan Chieh Yang
    Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan
    J Clin Microbiol 49:797-801. 2011
    ..5%) for detecting MTBC in smear-negative specimens; out of 44 smear-negative but culture-positive specimens, 35 were positive by the new system. The Cobas TaqMan MTB assay, including DNA extraction, can be completed within 3 h...
  24. pmc Rapid, simple, and sensitive detection of Anaplasma phagocytophilum by loop-mediated isothermal amplification of the msp2 gene
    Lei Pan
    Department of Rickettsiology, National Institute of Communicable Disease Control and Prevention, China CDC, Changping, Beijing 102206, People s Republic of China
    J Clin Microbiol 49:4117-20. 2011
    ..phagocytophilum. This LAMP assay is a valuable method for rapid, cost-effective, and simple detection of A. phagocytophilum in the rural areas of China...
  25. pmc DNA barcodes for biosecurity: invasive species identification
    K F Armstrong
    National Centre for Advanced Bio Protection Technologies, PO Box 84, Lincoln University, Canterbury, New Zealand
    Philos Trans R Soc Lond B Biol Sci 360:1813-23. 2005
    ..This approach is a realistic platform on which to build a much more flexible system, with the potential to be adopted globally for the rapid and accurate identification of invasive alien species...
  26. ncbi Development and implementation of a molecular diagnostic platform for daily rapid detection of 15 respiratory viruses
    Annika Tiveljung-Lindell
    Department of Clinical Microbiology, Karolinska University Hospital, Stockholm, Sweden
    J Med Virol 81:167-75. 2009
    ..The new platform was introduced in the laboratory in October 2007 and has then fully replaced the standard immunofluorescence assay for rapid detection of viruses and virus isolation...
  27. ncbi Emerging molecular assays for detection and characterization of respiratory viruses
    Wenjuan Wu
    Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA
    Clin Lab Med 29:673-93. 2009
    ..Further validation and implementation of such emerging molecular assays in routine clinical virology services will enhance the rapid diagnosis of respiratory viral infections and improve patient care...
  28. pmc Comparison of a rapid antigen test with nucleic acid testing during cocirculation of pandemic influenza A/H1N1 2009 and seasonal influenza A/H3N2
    Jen Kok
    Centre for Infectious Diseases and Microbiology Laboratory Services, Level 3, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Westmead, New South Wales 2145, Australia
    J Clin Microbiol 48:290-1. 2010
    ..4% versus 74.2%, P < 0.001). Nucleic acid tests should be used to detect pandemic influenza virus when rapid antigen tests are negative...
  29. pmc Rapid screening of MDR-TB using molecular Line Probe Assay is feasible in Uganda
    Heidi Albert
    Foundation for Innovative New Diagnostics, Kampala, Uganda
    BMC Infect Dis 10:41. 2010
    ..Line probe assays (LPAs) have been recently approved for use in low income settings and can be used to screen smear-positive sputum specimens for resistance to rifampicin and isoniazid in 1-2 days...
  30. pmc Simultaneously typing nine serotypes of enteroviruses associated with hand, foot, and mouth disease by a GeXP analyzer-based multiplex reverse transcription-PCR assay
    Xiumei Hu
    State Key Laboratory for Genetic Engineering and Molecular Virology, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, People s Republic of China
    J Clin Microbiol 50:288-93. 2012
    ..59% (25/27). In conclusion, the GeXP assay is a rapid, cost-effective, and high-throughput method for typing nine serotypes of HFMD-associated enteroviruses...
  31. pmc Comparison of the FilmArray Respiratory Panel and Prodesse real-time PCR assays for detection of respiratory pathogens
    M J Loeffelholz
    Department of Pathology, University of Texas Medical Branch, 301 University Blvd, Galveston, TX 77555 0740, USA
    J Clin Microbiol 49:4083-8. 2011
    ..In this population of young children with upper respiratory tract infection, RV/EV accounted for the majority of the additional pathogens detected by FilmArray RP...
  32. pmc Considerations on the use of nucleic acid-based amplification for malaria parasite detection
    Stephane Proux
    Shoklo Malaria Research Unit, Mae Sot, Thailand
    Malar J 10:323. 2011
    ..Few comparative studies are available, and none that addresses the issue of inter-laboratory variability...
  33. pmc PfHRP2 and PfLDH antigen detection for monitoring the efficacy of artemisinin-based combination therapy (ACT) in the treatment of uncomplicated falciparum malaria
    Sandrine Houze
    Parasitology Laboratory EA209, AP HP, Bichat C, Bernard Hospital, Paris Descartes University, 75018 Paris, France
    Malar J 8:211. 2009
  34. ncbi Analytical validation of the Oncotype DX genomic diagnostic test for recurrence prognosis and therapeutic response prediction in node-negative, estrogen receptor-positive breast cancer
    Maureen Cronin
    Genomic Health, Inc, Redwood City, CA 94063, USA
    Clin Chem 53:1084-91. 2007
    ..Individualized patient management requires strict performance criteria for clinical laboratory tests. We therefore investigated the analytical performance of the assay...
  35. ncbi Reassessment of the epidemiology of amebiasis: state of the art
    Cecilia Ximenez
    Departamento de Medicina Experimental, Facultad de Medicina, Universidad Nacional Autonoma de Mexico, Mexico DF, Mexico
    Infect Genet Evol 9:1023-32. 2009
    ..Finally, we will discuss those areas of the host-parasite relationship that are still not fully understood, and the scientific challenges to approach this important public health problem in the future...
  36. ncbi State-of-the-art Echinococcus and Taenia: phylogenetic taxonomy of human-pathogenic tapeworms and its application to molecular diagnosis
    Minoru Nakao
    Department of Parasitology, Asahikawa Medical College, Midorigaoka Higashi 2 1 1 1, Asahikawa 078 8510, Japan
    Infect Genet Evol 10:444-52. 2010
    ..Here, we introduce the recent advances of taeniid phylogeny and its application to molecular diagnosis...
  37. ncbi Dried blood spot for hepatitis C virus serology and molecular testing
    Edouard Tuaillon
    Virology Laboratory, Montpellier University Hospital, France
    Hepatology 51:752-8. 2010
    ..95; P < 0.001). HCV genotyping was successfully performed on DBS samples, with a full concordance between the 14 paired DBS and serum samples (genotypes 1-4)...
  38. ncbi Potential impact of rapid diagnostic tests on improving antimicrobial use
    Fred C Tenover
    Cepheid, Sunnyvale, California, USA
    Ann N Y Acad Sci 1213:70-80. 2010
    ..Data on the presence of resistant bacteria in a clinical sample in less than one hour should improve the effectiveness of antimicrobial stewardship programs...
  39. ncbi Recent trends in in-vitro nanodiagnostics for detection of pathogens
    Siddhesh B Shinde
    Institute of Chemical Technology, Matunga, Mumbai 400019, India
    J Control Release 159:164-80. 2012
  40. pmc New specimens and laboratory diagnostics for childhood pulmonary TB: progress and prospects
    Mark P Nicol
    Division of Medical Microbiology, Department of Clinical Laboratory Sciences, Institute for Infectious Diseases and Molecular Medicine, University of Cape Town and National Health Laboratory Service of South Africa
    Paediatr Respir Rev 12:16-21. 2011
    ..The recent development of an integrated specimen processing and real-time PCR testing platform for M. tuberculosis and rifampicin resistance is an important advance that requires evaluation in childhood TB...
  41. pmc Evaluation of a PCR test for detection of treponema pallidum in swabs and blood
    P A Grange
    Laboratoire de Recherche en Dermatologie, EA 1833, Centre National de Référence Syphilis, Faculte de Medecine, Universite Paris Descartes, Paris, France
    J Clin Microbiol 50:546-52. 2012
    ..pallidum detection in any of the specimens tested. Swab specimens from mucosal or skin lesions seemed to be more useful than blood for the efficient detection of the T. pallidum genome and, thus, for the diagnosis of syphilis...
  42. ncbi Molecular diagnosis of bloodstream infections: planning to (physically) reach the bedside
    N Leggieri
    Bacteriology Laboratory, Service of Infectious Diseases, University of Geneva Hospitals, rue Gabrielle Perret Gentil, Geneva, Switzerland
    Curr Opin Infect Dis 23:311-9. 2010
  43. pmc Stacking nonenzymatic circuits for high signal gain
    Xi Chen
    Department of Chemistry and Biochemistry, Center for Systems and Synthetic Biology, University of Texas at Austin, Austin, TX 78712, USA
    Proc Natl Acad Sci U S A 110:5386-91. 2013
    ..Implementation of these unique methods and design principles should greatly empower molecular programming in general and DNA-based molecular diagnostics in particular...
  44. pmc Detection of Mycobacterium tuberculosis in blood by use of the Xpert MTB/RIF assay
    Padmapriya P Banada
    Center for Infectious Diseases, New Jersey Medical School UMDNJ, Newark, New Jersey, USA
    J Clin Microbiol 51:2317-22. 2013
    ..tuberculosis. This approach may be a useful method to detect extrapulmonary tuberculosis and the risk of death in immunocompromised patients...
  45. pmc Diagnostic accuracy of the genotype MTBDRsl assay for rapid diagnosis of extensively drug-resistant tuberculosis in HIV-coinfected patients
    Irina Kontsevaya
    Samara Oblast Tuberculosis Dispensary, Samara, Russia
    J Clin Microbiol 51:243-8. 2013
    ..9% if kanamycin (not commonly used in Western Europe) was excluded. The assay is a highly specific screening tool for XDR detection in direct specimens from HIV-coinfected TB patients but cannot be used to rule out XDR TB...
  46. pmc Diagnostic accuracy of molecular amplification tests for human African trypanosomiasis--systematic review
    Claire M Mugasa
    Royal Tropical Institute, KIT Biomedical Research, Amsterdam, The Netherlands
    PLoS Negl Trop Dis 6:e1438. 2012
    ..Here, we investigated the diagnostic accuracy of molecular amplification tests for HAT, the quality of articles and reasons for variation in accuracy...
  47. pmc Commercial nucleic-acid amplification tests for diagnosis of pulmonary tuberculosis in respiratory specimens: meta-analysis and meta-regression
    Daphne I Ling
    Division of Epidemiology, School of Public Health, University of California, Berkeley, California, USA
    PLoS ONE 3:e1536. 2008
    ..We performed a meta-analysis on the accuracy of commercial NAATs to diagnose pulmonary TB and meta-regression to identify factors that are associated with higher accuracy...
  48. ncbi Molecular monitoring of adenovirus in peripheral blood after allogeneic bone marrow transplantation permits early diagnosis of disseminated disease
    Thomas Lion
    Children s Cancer Research Institute CCRI, Kinderspitalgasse 6, A 1090 Vienna, Austria
    Blood 102:1114-20. 2003
    ..The observation of AdV in peripheral blood may therefore serve as a basis for early initiation of preemptive antiviral treatment...
  49. pmc Wedding biodiversity inventory of a large and complex Lepidoptera fauna with DNA barcoding
    Daniel H Janzen
    Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Philos Trans R Soc Lond B Biol Sci 360:1835-45. 2005
  50. ncbi Methylated DNA as a possible screening marker for neoplastic disease in several body fluids
    Hannes M Müller
    Department of Obstetrics and Gynecology, Innsbruck University Hospital, Austria
    Expert Rev Mol Diagn 3:443-58. 2003
    ..Due to the ubiquity of DNA methylation changes and the possibility to detect methylated DNA in several body fluids, this specifically altered DNA may serve as a potential new screening marker for neoplastic disease...
  51. pmc Comparison of five diagnostic modalities for direct detection of Borrelia burgdorferi in patients with early Lyme disease
    Dionysios Liveris
    Department of Microbiology and Immunology, New York Medical College, Valhalla, NY 10595, USA
    Diagn Microbiol Infect Dis 73:243-5. 2012
    ..This enabled microbiologic or molecular microbiologic confirmation of the diagnosis of B. burgdorferi infection in all but 4 (6.1%) of the 66 patients evaluated...
  52. ncbi Rapid detection of Marek's disease virus in feather follicles by loop-mediated amplification
    Grzegorz Woźniakowski
    Department of Poultry Viral Diseases, National Veterinary Research Institute, Partyzantow 57 Avenue, 24 100 Puławy, Poland
    Avian Dis 55:462-7. 2011
    ..Since the use of thermocyclers is not necessary for LAMP assay, it can be conducted by small laboratories and even field veterinarians...
  53. ncbi Molecular karyotyping: from microscope to SNP arrays
    Antoinet C J Gijsbers
    Clinical Genetics, Leiden University Medical Center, The Netherlands
    Horm Res Paediatr 76:208-13. 2011
    ..Many new microdeletion and microduplication syndromes have been identified by this new method. In this review, we will focus on the most commonly used (molecular) cytogenetic techniques...
  54. ncbi Classification of the four main types of lung cancer using a microRNA-based diagnostic assay
    Shlomit Gilad
    Rosetta Genomics, Rehovot, Israel
    J Mol Diagn 14:510-7. 2012
    ..Thus, miRview lung is a simple and reliable diagnostic assay that offers an accurate and standardized classification tool for primary lung cancer using pathologic and cytologic samples...
  55. ncbi In vivo pathology: seeing with molecular specificity and cellular resolution in the living body
    Christopher H Contag
    Department of Pediatrics, Radiology, and Microbiology and Immunology, Stanford University, Stanford, California 94305, USA
    Annu Rev Pathol 2:277-305. 2007
  56. ncbi Developing molecular amplification methods for rapid diagnosis of respiratory tract infections caused by bacterial pathogens
    Fred C Tenover
    Cepheid, Sunnyvale, California 94089, USA
    Clin Infect Dis 52:S338-45. 2011
    ..Thus, the performance parameters of a new diagnostic method should be closely matched to a precisely defined intended use statement...
  57. ncbi Performance of the GenoType® MTBDRPlus assay in routine settings: a multicenter study
    S Mironova
    Samara Oblast TB Service, 154 Novo Sadovaya Street, Samara, 443068, Russian Federation
    Eur J Clin Microbiol Infect Dis 31:1381-7. 2012
    ..The absence of statistically significant differences between sites suggested that the comparable performance obtained using these assays has helped demonstrate the formation of a successful diagnostic trial network...
  58. pmc Multicenter evaluation of the LightCycler methicillin-resistant Staphylococcus aureus (MRSA) advanced test as a rapid method for detection of MRSA in nasal surveillance swabs
    Lance R Peterson
    NorthShore University Healthsystem, Department of Pathology and Laboratory Medicine, 2650 Ridge Avenue, Walgreen Bldg, SB525, Evanston, IL 60201, USA
    J Clin Microbiol 48:1661-6. 2010
    ..001) with the LightCycler MRSA advanced test. The sensitivity of direct culture was 80.4%. The LightCycler MRSA advanced test is a useful tool for sensitive and rapid detection of MRSA nasal colonization...
  59. ncbi Validation of molecular-diagnostic techniques in the parasitological laboratory
    Franz J Conraths
    Friedrich Loeffler Institut, Federal Research Institute for Animal Health, Institute of Epidemiology, Seestr 55, D 16868 Wusterhausen, Germany
    Vet Parasitol 136:91-8. 2006
    ..After an initial validation, test performance needs to be continuously monitored, e.g. by using combined Shewhart-CUSUM control routines, and test results compared to those obtained by other laboratories (proficiency testing)...
  60. ncbi Comparative evaluation of the QIAGEN QIAsymphony® SP system and bioMérieux NucliSens easyMAG automated extraction platforms in a clinical virology laboratory
    Adele V Lee
    Department of Infection HPA Lead Microbiology Laboratory for London, Barts and The London NHS Trust, London, E1 2ES, UK
    J Clin Virol 52:339-43. 2011
    ..The QIAGEN QIAsymphony(®) SP is an automated system that can process a variety of different sample types for nucleic acid extraction...
  61. pmc First international external quality assessment of molecular detection of Crimean-Congo hemorrhagic fever virus
    Camille Escadafal
    Centre for Biosafety, Robert Koch Institute, Berlin, Germany
    PLoS Negl Trop Dis 6:e1706. 2012
    ..These results indicate that there is still a need for improving testing conditions and standardizing protocols for the molecular detection of Crimean-Congo hemorrhagic fever virus...
  62. ncbi First evidence that parasite infecting apparent aparasitemic serological suspects in human African trypanosomiasis are Trypanosoma brucei gambiense and are similar to those found in patients
    Jacques Kaboré
    UMR 177 IRD CIRAD, Centre International de Recherche Développement sur l Elevage en zone Subhumide CIRDES, 01 BP 454 Bobo Dioulasso 01, Burkina Faso
    Infect Genet Evol 11:1250-5. 2011
    ..Whether these individuals should undergo treatment remains an open question as long as their role in HAT transmission is unknown. Our results strongly recommend the follow-up of such subjects to improve control strategies...
  63. pmc Adaptation of a visualized loop-mediated isothermal amplification technique for field detection of Plasmodium vivax infection
    Zhi Yong Tao
    Department of Parasitology, Medical College of Soochow University, Suzhou 215123, People s Republic of China
    Parasit Vectors 4:115. 2011
    ..In this study, we establish a novel visualized LAMP method in a closed-tube system, and validate it for the diagnosis of malaria under simulated field conditions...
  64. ncbi Molecular diagnosis of leishmaniasis
    Carlos Alberto P Tavares
    Departamento de Bioquimica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
    Expert Rev Mol Diagn 3:657-67. 2003
    ..Recent advances in Leishmania genome sequencing, the use of DNA microarrays and protein microarray methodologies and their potential use for leishmaniasis diagnosis are presented...
  65. ncbi Comprehensive diagnostic strategy for blood culture-negative endocarditis: a prospective study of 819 new cases
    Pierre Edouard Fournier
    Unite de Recherche sur les Maladies Infectieuses et Tropicales Emergentes, Centre National de la Recherche Scientifique Institut de Recherche pour le Développement, Unite Mixte de Recherche 6236, Faculte de Medecine, Universite de la Mediterranee, France
    Clin Infect Dis 51:131-40. 2010
    ..whipplei, Bartonella species, and fungi in blood. Broad-spectrum 16S and 18S ribosomal RNA PCR may be performed on valvular biopsies, when available...
  66. ncbi Prevalence of Candida dubliniensis fungemia in Argentina: identification by a novel multiplex PCR and comparison of different phenotypic methods
    Maria Eugenia Bosco-Borgeat
    Departamento Micologia, Instituto Nacional de Enfermedades Infecciosas, ANLIS Dr C G Malbran, Av Velez Sarsfield 563, C1282AFF, Ciudad Autonoma de Buenos Aires, Argentina
    Mycopathologia 172:407-14. 2011
    ..It has been suggested that C. dubliniensis may have higher propensity to develop azole antifungal drug resistance than C. albicans. In this study, one of the five clinical isolates of C. dubliniensis was resistant to fluconazole...
  67. pmc Comparison of the Luminex xTAG respiratory viral panel with xTAG respiratory viral panel fast for diagnosis of respiratory virus infections
    Kanti Pabbaraju
    Provincial Laboratory for Public Health, Calgary, Alberta, Canada
    J Clin Microbiol 49:1738-44. 2011
    ..A small number of samples positive for influenza A virus, respiratory syncytial virus B, human metapneumovirus, and parainfluenza virus type 1 were not detected by the RVP Classic assay and in general had low viral loads...
  68. pmc Assessing the genetic diversity of the aldolase genes of Plasmodium falciparum and Plasmodium vivax and its potential effect on performance of aldolase-detecting rapid diagnostic tests
    Nelson Lee
    The Australian Centre for International and Tropical Health, Brisbane, Australia
    J Clin Microbiol 44:4547-9. 2006
    ..vivax aldolases by sequencing the coding genes from parasites of various origins. The results show that aldolases are highly conserved, indicating that antigenic diversity is not a cause of variable RDT sensitivity...
  69. pmc A molecular diagnostic tool to replace larval culture in conventional faecal egg count reduction testing in sheep
    Florian Roeber
    Faculty of Veterinary Science, The University of Melbourne, Parkville, Victoria, Australia
    PLoS ONE 7:e37327. 2012
  70. ncbi Efficacy of loop mediated isothermal amplification (LAMP) assay for the laboratory identification of Mycobacterium tuberculosis isolates in a resource limited setting
    G Geojith
    Infectious Disease Unit, St John s Research Institute, Bangalore, India
    J Microbiol Methods 84:71-3. 2011
    ..The need for modification of protocols to yield better efficacy in this scenario needs to be addressed in subsequent studies...
  71. ncbi Molecular diagnosis of anthelmintic resistance
    Georg von Samson-Himmelstjerna
    Institute of Parasitology, University of Veterinary Medicine Hannover, Bunteweg 17, 30559 Hannover, Germany
    Vet Parasitol 136:99-107. 2006
    ..It is argued that a prerequisite for future molecular diagnosis will be tests providing reliable and exact quantification of resistance related alleles in DNA extracted from representative pools of parasites...
  72. pmc Impact of Trichomonas vaginalis transcription-mediated amplification-based analyte-specific-reagent testing in a metropolitan setting of high sexually transmitted disease prevalence
    Erik Munson
    Wheaton Franciscan Laboratory, 11020 West Plank Court, Suite 100, Wauwatosa, WI 53226, USA
    J Clin Microbiol 46:3368-74. 2008
    ..003) testing. Highly sensitive T. vaginalis molecular ASR not only transcends issues of specimen integrity and microscopic acumen but also has an increased ability to predict the likelihood of additional STDs in defined populations...
  73. pmc Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice
    L V Sequist
    Massachusetts General Hospital Cancer Center, Boston, USA
    Ann Oncol 22:2616-24. 2011
    ..Personalizing non-small-cell lung cancer (NSCLC) therapy toward oncogene addicted pathway inhibition is effective. Hence, the ability to determine a more comprehensive genotype for each case is becoming essential to optimal cancer care...
  74. pmc Validation of the GenoType MTBDRplus assay for detection of MDR-TB in a public health laboratory in Thailand
    Rapeepun Anek-Vorapong
    Bangkok Metropolitan Administration, Health Laboratory Division, Bangkok, Thailand
    BMC Infect Dis 10:123. 2010
  75. ncbi Clinical examination versus Chlamydia trachomatis assays to guide antibiotic use in trachoma control programmes
    Anthony W Solomon
    Lancet Infect Dis 6:5-6; author reply 7-8. 2006
  76. pmc Identification and characterization of bacterial pathogens causing bloodstream infections by DNA microarray
    Berit E E Cleven
    Institute for Medical Microbiology, Immunology and Hygiene, Medical Center, University of Cologne, Goldenfelsstr 19 21, 50935 Cologne, Germany
    J Clin Microbiol 44:2389-97. 2006
    ..This novel DNA microarray demonstrates the feasibility of simultaneously identifying and characterizing bacteria in blood cultures without prior amplification of target DNA or preidentification of the pathogen...
  77. pmc Low-density macroarray for rapid detection and identification of Crimean-Congo hemorrhagic fever virus
    Roman Wölfel
    Dept for Medical Biological Reconnaissance and Verification, Bundeswehr Institute of Microbiology, Munich, Germany
    J Clin Microbiol 47:1025-30. 2009
    ..It has usefulness for the clinical diagnosis and surveillance of CCHF infections under limited laboratory conditions in developing countries or in field situations...
  78. ncbi Evaluation of the Xpert MTB/RIF assay for the diagnosis of pulmonary tuberculosis in a high HIV prevalence setting
    Grant Theron
    Lung Infection and Immunity Unit, Division of Pulmonology and UCT Lung Institute, Department of Medicine, University of Cape Town, Cape Town, South Africa
    Am J Respir Crit Care Med 184:132-40. 2011
    ..Xpert MTB/RIF is a novel automated molecular diagnostic recently endorsed by the World Health Organization. However, performance-related data from high HIV prevalence settings are limited...
  79. ncbi Applications of nanobiotechnology in clinical diagnostics
    Kewal K Jain
    Jain PharmaBiotech, Basel, Switzerland
    Clin Chem 53:2002-9. 2007
    ..Nanobiotechnologies are being applied to molecular diagnostics and several technologies are in development...
  80. ncbi Molecular diagnosis of viral diseases, present trends and future aspects A view from the OIE Collaborating Centre for the Application of Polymerase Chain Reaction Methods for Diagnosis of Viral Diseases in Veterinary Medicine
    Sandor Belak
    Department of Virology, The National Veterinary Institute and the Swedish University of Agricultural Sciences, Uppsala, Sweden
    Vaccine 25:5444-52. 2007
    ..Further trends of diagnostic development are also mentioned, in order to combat TADs and other viral infections more effectively in the future...
  81. ncbi Molecular imaging in cancer
    Ralph Weissleder
    Center for Molecular Imaging Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA
    Science 312:1168-71. 2006
    ..This information is expected to have a major impact on cancer detection, individualized treatment, and drug development, as well as our understanding of how cancer arises...
  82. ncbi Perspectives for improved and more accurate classification of thyroid epithelial tumors
    Markus Eszlinger
    Third Medical Department, University of Leipzig, D 04103 Leipzig, Germany
    J Clin Endocrinol Metab 93:3286-94. 2008
  83. ncbi Use of a single-tube nested real-time PCR assay to facilitate the early diagnosis of acute Q fever
    Min Yi Hou
    Laboratory, Research and Diagnostic Center, Centers for Disease Control, Department of Health, Taipei, Taiwan
    Jpn J Infect Dis 64:161-2. 2011
  84. ncbi Simple amplification-based assay: a nucleic acid-based point-of-care platform for HIV-1 testing
    Helen H Lee
    Diagnostics Development Unit, Department of Haematology, University of Cambridge, Cambridge, United Kingdom
    J Infect Dis 201:S65-72. 2010
    ..The assay was designed to be simple, stable, robust, self-contained, and capable of detecting a broad spectrum of HIV-1 subtypes and recombinant forms...
  85. pmc Impact of discrepancies between the Abbott realtime and cobas TaqMan assays for quantification of human immunodeficiency virus type 1 group M non-B subtypes
    M Wirden
    Department of Virology, Pitie Salpetriere Hospital, Paris, France
    J Clin Microbiol 47:1543-5. 2009
    ..The differences exceeded 0.5 log for about 20% of samples and 1 log for 3%, with higher values always from the Abbott assay in the latter cases...
  86. pmc Multiplexed homogeneous proximity ligation assays for high-throughput protein biomarker research in serological material
    Martin Lundberg
    Olink Bioscience, Dag Hammarskjölds väg 54A, 75183 Uppsala Sweden
    Mol Cell Proteomics 10:M110.004978. 2011
    ..To illustrate the potential of this protein detection technology, a pilot biomarker research project was performed using biobanked plasma samples for the detection of colorectal cancer using a multivariate signature...
  87. pmc Multiplex PCR allows rapid and accurate diagnosis of bloodstream infections in newborns and children with suspected sepsis
    Barbara Lucignano
    Unit of Microbiology, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
    J Clin Microbiol 49:2252-8. 2011
    ..8%] versus n = 26 [1.6%]), respectively; P < 0.0001). SeptiFast served as a highly valuable adjunct to conventional blood culture in children, adding diagnostic value and shortening the time to result (TTR) to 6 h...
  88. pmc Evaluation of the analytical performance of the Xpert MTB/RIF assay
    Robert Blakemore
    Division of Infectious Disease, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ 07103, USA
    J Clin Microbiol 48:2495-501. 2010
    ..M. tuberculosis was not detected until at least 10(8) copies of an MTBDRplus amplicon were spiked into 1 ml of sputum, suggesting that false-positive results would be unlikely to occur...
  89. pmc Evaluation of the Abbott m2000 RealTime human immunodeficiency virus type 1 (HIV-1) assay for HIV load monitoring in South Africa compared to the Roche Cobas AmpliPrep-Cobas Amplicor, Roche Cobas AmpliPrep-Cobas TaqMan HIV-1, and BioMerieux NucliSENS Easy
    Lesley E Scott
    Department of Molecular Medicine and Haematology, University of Witwatersrand, Faculty of Health Sciences, School of Pathology, Johannesburg, South Africa
    J Clin Microbiol 47:2209-17. 2009
    ..The RealTime HIV-1 assay can test 93 samples per day with minimal manual preparation, less staff, and the minimization of contamination through automation. This assay is suitable for HIV-1 subtype C VL quantification in South Africa...
  90. ncbi Comparison of commercial systems for extraction of nucleic acids from DNA/RNA respiratory pathogens
    Genyan Yang
    Division of Blood Disorders, National Center for Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30329, USA
    J Virol Methods 171:195-9. 2011
    ..These findings suggest that systems differed in nucleic acid recovery, reproducibility, and linearity in a pathogen specific manner...
  91. pmc Improving community health worker use of malaria rapid diagnostic tests in Zambia: package instructions, job aid and job aid-plus-training
    Steven A Harvey
    University Research Co, LLC, 7200 Wisconsin Ave, Suite 600, Bethesda, MD 20814, USA
    Malar J 7:160. 2008
  92. ncbi Does the 3-gene diagnostic assay accurately distinguish benign from malignant thyroid neoplasms?
    Daniel Shibru
    Department of Surgery, University of California at San Francisco, San Francisco, California 94143 1674, USA
    Cancer 113:930-5. 2008
    ..The aim of the current study was to determine the diagnostic accuracy of the 3-gene assay in thyroid tissue and in FNA biopsy for distinguishing benign from malignant thyroid neoplasms...
  93. pmc Screening of a large global Aspergillus fumigatus species complex collection by using a species-specific microsphere-based Luminex assay
    Kizee A Etienne
    Mycotic Diseases Branch, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    J Clin Microbiol 47:4171-2. 2009
    ..This molecular tool was then employed to screen 499 clinical A. fumigatus species complex isolates collected from multiple medical centers throughout the world with results demonstrating the exclusive presence of A. fumigatus...
  94. pmc Comparison of the Abbott realtime human immunodeficiency virus type 1 (HIV-1) assay to the Cobas AmpliPrep/Cobas TaqMan HIV-1 test: workflow, reliability, and direct costs
    Cari R Sloma
    Department of Laboratory Medicine and Pathology, Division of Clinical Microbiology, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Microbiol 47:889-95. 2009
    ..In selecting an assay for implementation, laboratories should consider how various assay and instrument features might impact laboratory operation and patient care...
  95. pmc Stability of gametocyte-specific Pfs25-mRNA in dried blood spots on filter paper subjected to different storage conditions
    Michael Pritsch
    Division of Infectious Diseases and Tropical Medicine, Medical Center of the University of Munich LMU, Leopoldstrasse 5, 80802 Munich, Germany
    Malar J 11:138. 2012
    ..Performing analysis on fresh whole blood samples is often not feasible in remote and resource-poor areas. Convenient methods for sample storage and transport are urgently needed...
  96. pmc The unholy trinity: taxonomy, species delimitation and DNA barcoding
    Rob DeSalle
    Division of Invertebrate Zoology, American Museum of Natural History, 79th Street at Central Park West, New York, NY 10024, USA
    Philos Trans R Soc Lond B Biol Sci 360:1905-16. 2005
  97. pmc Prospective evaluation of a matrix-assisted laser desorption ionization-time of flight mass spectrometry system in a hospital clinical microbiology laboratory for identification of bacteria and yeasts: a bench-by-bench study for assessing the impact on ti
    K E Tan
    Johns Hopkins University School of Medicine, Baltimore, MD, USA
    J Clin Microbiol 50:3301-8. 2012
    ..This comprehensive cost analysis model can be generalized to other moderate- to high-volume laboratories...
  98. pmc Development and validation of a microsphere-based Luminex assay for rapid identification of clinically relevant aspergilli
    Kizee A Etienne
    Mycotic Diseases Branch, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    J Clin Microbiol 47:1096-100. 2009
    ..The Aspergillus Luminex assay is a rapid, relatively simple method that may prove to be a useful diagnostic tool for rapid Aspergillus identification in clinical laboratory settings...
  99. ncbi Therapy with antifungals decreases the diagnostic performance of PCR for diagnosing invasive aspergillosis in bronchoalveolar lavage samples of patients with haematological malignancies
    Mark Reinwald
    Mannheim University Hospital, University of Heidelberg, Theodor Kutzer Ufer 1 3, Mannheim, Germany
    J Antimicrob Chemother 67:2260-7. 2012
    ..We evaluated the effect of antifungal treatment on the performance of an Aspergillus-specific PCR assay in bronchoalveolar lavage (BAL) samples...
  100. ncbi Loop-mediated isothermal amplification (LAMP) for malarial parasites of humans: would it come to clinical reality as a point-of-care test?
    Rashad Abdul-Ghani
    Department of Parasitology, Medical Research Institute, Alexandria University, Alexandria, Egypt
    Acta Trop 122:233-40. 2012
  101. ncbi Performance evaluation of the automated NucliSens easyMAG nucleic acid extraction platform in comparison with QIAamp Mini kit from clinical specimens
    Francesca Perandin
    Department of Experimental and Applied Medicine, University of Brescia, Italy
    Diagn Microbiol Infect Dis 64:158-65. 2009
    ..The NucliSens easyMAG is extremely easy to perform, is automated, and resulted in a strong reduction of hands-on time compared with manual protocol...

Research Grants66

  1. Nanodroplet PCR Lab-Chip for Clinical Pathogen Detection
    Michael Pollack; Fiscal Year: 2005
    ..While molecular diagnostic techniques including PCR are a promising approach for rapid and sensitive detection of pathogens, they suffer ..
  2. Infant Screening and Diagnosis of Duchenne Muscular Dys*
    Paul Fernhoff; Fiscal Year: 2007
    ..These data points will be tracked throughout the project. ..
  3. Chicago Community-Acquired Pneumonia Consortium
    Richard G Wunderink; Fiscal Year: 2010
    ..Developments in molecular diagnostic techniques, such as urinary antigen testing and polymerase chain reaction (PCR) detection of bacterial and viral ..
    Michael L Cunningham; Fiscal Year: 2013
    ..There is an incomplete understanding of the causes of craniosynostosis and we lack experimental models. The development of these resources will improve clinical care, design biologically based therapies, and pursue primary prevention. ..
  5. Chicago Community-Acquired Pneumonia Consortium II
    Richard G Wunderink; Fiscal Year: 2013
    ..Conversely, developments in molecular diagnostic techniques, such as urinary antigen testing and polymerase chain reaction (PCR) detection of bacterial and viral ..
  6. Bacterial Infection in COPD
    Sanjay Sethi; Fiscal Year: 2013
    ..Novel observations will include a comparison of molecular diagnostic techniques to COPD with cultures, and an understanding of the implication of detecting a pathogen only by ..
  7. Microfluidic Processing of Leukocytes for Molecular Diagnostic Testing
    James C Sturm; Fiscal Year: 2012
    ..Applications include research and clinical diagnostics in cancer, infectious disease, and inflammatory disease, among other disease areas. ..
  8. The Role of Anaerobic Bacterial Infection in Cystic Fibrosis
    RICHARD CHARLES BOUCHER; Fiscal Year: 2013
    ..preliminary data: 1) anaerobes are present in the CF lung, as revealed by rigorous culture and molecular diagnostic techniques;2) the anaerobes detected in CF lung do not reflect oral contamination;and 3) the high density (equal ..
  9. Copy number variations (CNVs) in neuroblastoma
    Sharon Diskin; Fiscal Year: 2011
    ..Furthermore and as demonstrated in the past, the genes involved in predisposition to neuroblastoma may provide substantial insight into normal human development and cancer biology in general. ..
  10. Classifying DNA Mismatch Repair Gene Variants of Unknown Significance
    SEAN VAHRAM TAVTIGIAN; Fiscal Year: 2013
    ..Improving the interpretation of genetic variation will improve the management of hereditary cancers and other genetic diseases. ..
    Katherine A High; Fiscal Year: 2013
    ..immunohematology, stem cell development, molecular diagnostic techniques, molecular basis of hemostasis, and gene therapy for hematologic disorders;(2) the opportunity for ..
  12. Copy number variations (CNVs) in neuroblastoma
    Sharon Diskin; Fiscal Year: 2013
    ..She will take advantage of the extensive resources of her environment, both at the Children's Hospital of Philadelphia, and the University of Pennsylvania. ..
  13. CSER RoRC Centralized Support Coordinating Center
    Peter Tarczy-Hornoch; Fiscal Year: 2013
    ..Aim 3: Optimize development and distribution of CSER/RoRC data and products, and facilitate interactions with other relevant NIH programs. ..
  14. Molecular profiles of colorectal adenomas by array CGH
    Galen Hostetter; Fiscal Year: 2009 tissue based assays and tissue microdissection, but am seeking training in high throughput molecular diagnostic techniques (e.g...
  15. Herpesviruses in Vestibular Neuritis
    JEFFREY VRABEC; Fiscal Year: 2003
    ..chronic vestibulopathies will be analyzed for the presence of herpes virus DNA using contemporary molecular diagnostic techniques. The prevalence of each virus in the ganglion will be compared with the prevalence in a randomly ..
  16. Mathematical Modeling of Anthrax Infection
    Yoram Vodovotz; Fiscal Year: 2002
    ..and diagnostic tests are used to confirm suspected anthrax infection, and it is likely that emerging molecular diagnostic techniques will yield more accurate and quicker confirmation of anthrax infection...
  17. Identification and characterization of the DFNB17 gene
    John Greinwald; Fiscal Year: 2006
  18. Development of the Closed Tubule PCR Module
    Shuqi Chen; Fiscal Year: 2001
    ..The proposed hand held, battery powered, portable ct-PCP module will fill this niche in a cost-effective manner and open new markets in environmental and military testing in the near-term. ..
  19. Molecular Diagnostics for Breast Cancer
    Philip Bernard; Fiscal Year: 2004
    ..Multivariate analyses will be used to show statistical significance of molecular classifications. This study should provide a framework for molecular diagnostic testing of solid tumors in the clinical laboratory. ..
    Robin Felder; Fiscal Year: 2004
    ..on transitioning the Hypogen Test from the research laboratory to a clinical laboratory certified by the clinical laboratory improvement act of 1988 (CLIA) to perform molecular diagnostic testing so that patient specimens may be analyzed ..
  21. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2008
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  22. High throughput screening for splice variant cDNAs
    JEAN MICHEL LELIAS; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  23. Fast and Simple Real Time PCR for Quantitative Molecular Diagnostic Testing
    JOEL GROVER; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  24. Genomic Approaches to Improve Transfusion Therapy in SCD Patients
    Marion E Reid; Fiscal Year: 2010
    ..We believe that data generated from this project will have an immediate impact in improving the transfusion of patients with SCD. (End of Abstract) ..
  25. Extracellular Replication of Listeria in Vivo
    Christopher H Contag; Fiscal Year: 2010
    ..We propose to use molecular imaging techniques to learn how this bacterium colonizes the gallbladder, constituting the only current animal model of the human carrier state of typhoid fever. ..
    Christopher Contag; Fiscal Year: 2003
    ..Positive results raise the possibility of transferring this technology from the NOD mouse model to human disease. ..
    Christopher Contag; Fiscal Year: 2002
    ..Since homologues of Nramp1 have been found in humans, studying this mode of resistance to microbial infection is significant for understanding disease and minimizing human infections. ..
  28. Imaging Spontaneous Breast Cancer in Mouse Models
    Christopher Contag; Fiscal Year: 2002
    ..These studies are likely to provide basic biological insights and therapeutic strategies useful for more effective treatment of patients. ..
    Christopher Contag; Fiscal Year: 2002
    ..This will provide us with a unique opportunity for a multifaceted study of neoplasia that will identify novel therapeutic targets and reveal basic mechanisms of disease through state of the art imaging. ..
  30. Gene Expression in Inflammatory Myopathies
    Steven Greenberg; Fiscal Year: 2005
    ..This work may provide further diagnostic approaches to these disorders and contribute to the understanding of their pathogenesis. ..
  31. Detection of Neoplasia in the Esophagus
    Christopher Contag; Fiscal Year: 2008
    ..abstract_text> ..
    Christopher Contag; Fiscal Year: 2002
    ..1 R33 CA88303-01 -3- Christopher Contag, Ph.D. ..
    Mildred Cho; Fiscal Year: 2002
    ..Our analysis will form inform public policy by indicating whether intellectual property policies or their implementation should be changed to encourage research and technology transfer, and if so, how. ..
  34. Spatiotemporal Analysis of Neoplasia in Animal Models
    Christopher Contag; Fiscal Year: 2006
    ..These goals will be met by generating a shared imaging research resource at Stanford University with the ability of spatiotemporal analyses of both structure and function in neoplastic disease models. ..
    Eleftherios Diamandis; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  36. Duke-UNC Sickle Cell Disease Clinical Research Network
    Kevin Schulman; Fiscal Year: 2008
    ..End of Abstract) [unreadable] [unreadable] CLINICAL CENTER [unreadable] [unreadable] [unreadable]..
  37. CR1 Polymorphisms and Susceptibility to Severe Malaria
    JOANN MOULDS; Fiscal Year: 2002
    ..abstract_text> ..
  38. Vaso-occlusive Mechanisms that Induce Hypoxia and Cause Glioma Progression.
    Daniel J Brat; Fiscal Year: 2010
    ..This proposal introduces entirely novel concepts that may explain the highly aggressive properties of GBM and suggests therapeutic approaches that could potentially stabilize its progression. ..
  39. Molecular Epidemiology, Virulence, and Genomic Characterization of Ureaplasmas
    Ken B Waites; Fiscal Year: 2010
  40. FSHD: Chromatin Structure, Looping, & Expression
    Melanie Ehrlich; Fiscal Year: 2009
    ..The proposed research should elucidate new aspects of long-distance control of gene expression as well as lending clinically useful insights into this currently intractable disease. ..
    Leslie Lyons; Fiscal Year: 2007
    ..The rationale for this approach is that many primate researchers are unaware of the current primate resources and are unfamiliar with the use and advantages of genetics because it is outside their areas of expertise. ..
  42. Identifying small molecule inhibitors of KSHV vFLIP-TRAF2 interactions.
    Ethel Cesarman; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
    Ralph Weissleder; Fiscal Year: 2001
    ..abstract_text> ..
  44. Intravascular Thrombosis in Glioblastoma
    Daniel Brat; Fiscal Year: 2005
    ..Our emerging model represents a paradigm shift in the understanding of GBM and should lead directly to more effective therapies. ..
  45. Human Kallikrein 4 (hK4): A New Prostatic Biomarker?
    Eleftherios Diamandis; Fiscal Year: 2003
    ..If successful, our research will contribute to the development of new prostatic biomarkers and possibly, to better diagnosis which may lead to better clinical outcomes and reduced healthcare costs. ..
  46. Virulence and Immunity of Granulocytic Ehrlichiae
    JOHN DUMLER; Fiscal Year: 2005
    ..This information will provide the framework for rational design of new therapies aimed at modulating immune mechanisms and design of preventative measures aimed at immunization. ..
  47. Immune Responses in Genital Chlamydia Prior to Therapy
    WILLIAM GEISLER; Fiscal Year: 2005
    ..abstract_text> ..
    Michael Bates; Fiscal Year: 2004
    ..This program will allow additional training in molecular and cellular techniques, development of supervisory skills, and further instruction in the responsible conduct of research. ..
  49. Validation of Gene Expression Based Toxicity Screening
    Joseph Monforte; Fiscal Year: 2004
    ..Analysis of these gene data will be used to identify a smaller set of genes that are predictive of genotoxic and non-genotoxic activities. ..
    Ralph Weissleder; Fiscal Year: 2004
    ..Furthermore, the investigators believe that the proposed research is in the widest interest to the current NIAID program and other research programs in further developing robust tools to track immune cells in vivo. ..
    Ralph Weissleder; Fiscal Year: 2004
    ..The long-term goal of this research is to extend the capabilities of MR and apply it to in vivo imaging of gene expression. ..
  52. Non-contact microchip PCR based on infrared Heating
    James Landers; Fiscal Year: 2005
    ..k.a., a true lab-on-a-chip). ..
    Anne Avery; Fiscal Year: 2002
    ..This is particularly important when planning vaccine strategies for endemic areas, where vaccines are likely to already harbor a malaria infection which could alter the way their immune system handles antigen. ..
  54. MBD2 as a Target for Cancer Prevention and Treatment
    William Nelson; Fiscal Year: 2007
    ..abstract_text> ..
  55. Practical High Througput Low Cost Gene Expression Analysis
    Joseph Monforte; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  56. West Nile Virus Life Cycle in Flavivirus-Resistant Cells
    Pei Yong Shi; Fiscal Year: 2006
    ..abstract_text> ..
  57. Neurodevelopment and HIV/AIDS
    Annelies Van Rie; Fiscal Year: 2005
  58. Cognitive Effects of Cerebellar Lesions in Humans
    JEREMY SCHMAHMANN; Fiscal Year: 2006
    ..This study has implications for the recognition and treatment of disorders of higher order function in cerebellar patients. [unreadable] [unreadable]..
  59. Beta-receptors and cardiovascular pharmacogenomics
    Julie Johnson; Fiscal Year: 2006
    ..abstract_text> ..
  60. Thyrocytes Express Inflammatory Mediators
    Andrew Gianoukakis; Fiscal Year: 2006
    ..The candidate will develop the scientific knowledge base, problem solving abilities, and technical skills which will allow him to develop into a independent physician/scientiist. ..
  61. Complete Characterization of the 1918 Influenza Virus
    JEFFERY TAUBENBERGER; Fiscal Year: 2006
    Laura Lamps; Fiscal Year: 2003
    ..abstract_text> ..
  63. Targeting Acute HIV
    Christopher Pilcher; Fiscal Year: 2007
    ..Perform detailed cost effectiveness modeling in order to optimize acute HIV-centered efforts at HIV prevention. ..
  64. Metals in exhaled breath condensate as COPD biomarkers
    Antonio Mutti; Fiscal Year: 2005
    ..abstract_text> ..
    David Alland; Fiscal Year: 2005
    ..4) To identify and validate an informative set of SNPs for worldwide evolutionary and epidemiological analyses. ..
    David Perlin; Fiscal Year: 2004
    ..abstract_text> ..