Paolo Fortina

Personal Home Page

http://www.jefferson.edu/translational/faculty_profile.cfm?key=pmf104

Articles in Scholarly Journals [Incomplete List]

  1. Digital mRNA profiling
    Nature Biotechnology, vol. 26, no. 3, Article ID nbt0308-293, 1 pages, 2008
  2. Applications of nanoparticles to diagnostics and therapeutics in colorectal cancer
    Trends in Biotechnology, vol. 25, no. 4, pp. 145–152, 2007
  3. Combinatorial Sequencing-by-Hybridization: Analysis of the NF1 Gene
    Genetic Testing, vol. 10, no. 1, pp. 8–17, 2006
  4. Opportunities for near-infrared thermal ablation of colorectal metastases by guanylyl cyclase C-targeted gold nanoshells
    Future Oncology, vol. 2, no. 6, pp. 705–716, 2006
  5. Miniaturized detection technology in molecular diagnostics
    Expert Review of Molecular Diagnostics, vol. 5, no. 4, pp. 549–559, 2005
  6. Region-specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform
    Genome Research, vol. 15, no. 8, pp. 1168–1176, 2005
  7. Micropillar array chip for integrated white blood cell isolation and PCR
    Biomolecular Engineering, 2005
  8. Nanobiotechnology: the promise and reality of new approaches to molecular recognition
    Trends in Biotechnology, vol. 23, no. 4, pp. 168–173, 2005
  9. Ethanol potentiates HIV-1 gp120-induced apoptosis in human neurons via both the death receptor and NMDA receptor pathways
    Virology, vol. 334, no. 1, pp. 59–73, 2005
  10. Gene expression profiling during the transition to failure in TNF-α over-expressing mice demonstrates the development of autoimmune myocarditis
    Journal of Molecular and Cellular Cardiology, vol. 36, no. 4, pp. 515–530, 2004
  11. Identification ofAPC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization
    Human Mutation, vol. 24, no. 3, pp. 261–271, 2004
  12. Surface Effects on PCR Reactions in Multichip Microfluidic Platforms
    Biomedical Microdevices, vol. 6, no. 1, pp. 75–80, 2004
  13. The frame-shift mutation of the NOD/CARD gene is significantly increased in ulcerative colitis: An *IG-IBD study
    Gastroenterology, vol. 126, no. 2, pp. 625–627, 2004
  14.  -Thalassemia Microelectronic Chip: A Fast and Accurate Method for Mutation Detection
    Clinical Chemistry, vol. 50, no. 1, pp. 73–79, 2004
  15. Improved Real-Time PCR Assay for Homogeneous Multiplex Genotyping of Four CYP2C9 Alleles with Hybridization Probes
    Clinical Chemistry, vol. 49, no. 12, pp. 2109–2111, 2003
  16. Genotyping on a Thermal Gradient DNA Chip
    Genome Research, vol. 13, no. 3, pp. 467–475, 2003
  17. CARD15 Genotyping in Inflammatory Bowel Disease Patients by Multiplex Pyrosequencing
    Clinical Chemistry, vol. 49, no. 10, pp. 1675–1679, 2003
  18. Fabrication of plastic microchips by hot embossing
    Lab on a Chip, vol. 2, no. 1, p. 1, 2002
  19. Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss
    Clinical Genetics, vol. 61, no. 6, pp. 459–464, 2002
  20. Molecular diagnostics: hurdles for clinical implementation
    Trends in Molecular Medicine, vol. 8, no. 6, pp. 264–266, 2002
  21. Kinetics of heterogeneous hybridization on indium tin oxide surfaces with and without an applied potential
    ELECTROPHORESIS, vol. 23, no. 10, p. 1551, 2002
  22. Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss
    Human Mutation, vol. 20, no. 4, pp. 312–320, 2002
  23. International Collaboration Provides Convincing Linkage Replication in Complex Disease through Analysis of a Large Pooled Data Set: Crohn Disease and Chromosome 16
    The American Journal of Human Genetics, vol. 68, no. 5, pp. 1165–1171, 2001
  24. Microchip Module for Blood Sample Preparation and Nucleic Acid Amplification Reactions
    Genome Research, vol. 11, no. 3, pp. 405–412, 2001
  25. A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan Technology
    Genetic Testing, vol. 4, no. 2, pp. 177–181, 2000
  26. Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis
    European Journal of Human Genetics, vol. 8, no. 11, Article ID 5200542, 6 pages, 2000
  27. Simple two-color array-based approach for mutation detection
    European Journal of Human Genetics, vol. 8, no. 11, Article ID 5200558, 10 pages, 2000
  28. Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
    American Journal of Medical Genetics, vol. 92, no. 1, pp. 19–24, 2000
  29. Current Opinion in Neurology, vol. 12, no. 1, pp. 35–39, 1999
  30. Analytical Chemistry, vol. 70, no. 23, pp. 5085–5092, 1998
  31. Connexin-26 mutations in sporadic and inherited sensorineural deafness
    The Lancet, vol. 351, no. 9100, pp. 394–398, 1998
  32. Integrated Cell Isolation and Polymerase Chain Reaction Analysis Using Silicon Microfilter Chambers
    Analytical Biochemistry, vol. 257, no. 2, pp. 95–100, 1998
  33. Degenerate Oligonucleotide Primed–Polymerase Chain Reaction and Capillary Electrophoretic Analysis of Human DNA on Microchip-Based Devices
    Analytical Biochemistry, vol. 257, no. 2, pp. 101–106, 1998
  34. Effect of Hydrophobicity and Electrostatics on Adsorption and Surface Diffusion of DNA Oligonucleotides at Liquid/Solid Interfaces
    Journal of Colloid and Interface Science, vol. 203, no. 1, pp. 197–207, 1998
  35. Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis
    Journal of Chromatography A, vol. 781, no. 1-2, pp. 295–305, 1997
  36. Langmuir, vol. 13, no. 2, pp. 320–329, 1997
  37. Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    Human Molecular Genetics, vol. 6, no. 9, pp. 1605–1609, 1997
  38. Human α-Thalassemia syndromes: Detection of molecular defects
    American Journal of Hematology, vol. 53, no. 2, pp. 81–91, 1996
  39. Leber′s Hereditary Optic Neuropathy (LHON)-Related Mitochondrial DNA Sequence Changes in Italian Patients Presenting with Sporadic Bilateral Optic Neuritis
    Biochemical and Molecular Medicine, vol. 56, no. 1, pp. 45–51, 1995
  40. Nucleic acid detection using non-radioactive labelling methods
    Molecular and Cellular Probes, vol. 9, no. 3, pp. 145–156, 1995
  41. Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA
    Molecular and Cellular Probes, vol. 9, no. 3, pp. 175–182, 1995
  42. Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.
    Journal of Clinical Investigation, vol. 93, no. 1, pp. 172–179, 1994
  43. Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status
    Molecular and Cellular Probes, vol. 7, no. 4, pp. 311–324, 1993
  44. Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the ?F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    Molecular and Cellular Probes, vol. 6, no. 4, pp. 353–356, 1992
  45. Detection of the most common mutations causing beta-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS).
    Genome Research, vol. 2, no. 2, pp. 163–166, 1992
  46. A newly-characterized α-thalassaemia-1 deletion removes the entire α-like globin gene cluster in an Italian family
    British Journal of Haematology, vol. 78, no. 4, pp. 529–534, 1991
  47. RFLPs of the phenylalanine hydroxylase gene in the Italian population
    Journal of Inherited Metabolic Disease, vol. 12, no. 2, pp. 162–165, 1989