Paolo Fortina
Personal Home Page
http://www.jefferson.edu/translational/faculty_profile.cfm?key=pmf104
Articles in Scholarly Journals [Incomplete List]
- Digital mRNA profiling
Nature Biotechnology, vol. 26, no. 3, Article ID nbt0308-293, 1 pages, 2008 - Applications of nanoparticles to diagnostics and therapeutics in colorectal cancer
Trends in Biotechnology, vol. 25, no. 4, pp. 145–152, 2007 - Combinatorial Sequencing-by-Hybridization: Analysis of the NF1 Gene
Genetic Testing, vol. 10, no. 1, pp. 8–17, 2006 - 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 - Miniaturized detection technology in molecular diagnostics
Expert Review of Molecular Diagnostics, vol. 5, no. 4, pp. 549–559, 2005 - 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 - Micropillar array chip for integrated white blood cell isolation and PCR
Biomolecular Engineering, 2005 - Nanobiotechnology: the promise and reality of new approaches to molecular recognition
Trends in Biotechnology, vol. 23, no. 4, pp. 168–173, 2005 - 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 - 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 - 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 - Surface Effects on PCR Reactions in Multichip Microfluidic Platforms
Biomedical Microdevices, vol. 6, no. 1, pp. 75–80, 2004 - 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 - -Thalassemia Microelectronic Chip: A Fast and Accurate Method for Mutation Detection
Clinical Chemistry, vol. 50, no. 1, pp. 73–79, 2004 - 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 - Genotyping on a Thermal Gradient DNA Chip
Genome Research, vol. 13, no. 3, pp. 467–475, 2003 - CARD15 Genotyping in Inflammatory Bowel Disease Patients by Multiplex Pyrosequencing
Clinical Chemistry, vol. 49, no. 10, pp. 1675–1679, 2003 - Fabrication of plastic microchips by hot embossing
Lab on a Chip, vol. 2, no. 1, p. 1, 2002 - 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 - Molecular diagnostics: hurdles for clinical implementation
Trends in Molecular Medicine, vol. 8, no. 6, pp. 264–266, 2002 - Kinetics of heterogeneous hybridization on indium tin oxide surfaces with and without an applied potential
ELECTROPHORESIS, vol. 23, no. 10, p. 1551, 2002 - 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 - 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 - Microchip Module for Blood Sample Preparation and Nucleic Acid Amplification Reactions
Genome Research, vol. 11, no. 3, pp. 405–412, 2001 - A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan Technology
Genetic Testing, vol. 4, no. 2, pp. 177–181, 2000 - 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 - Simple two-color array-based approach for mutation detection
European Journal of Human Genetics, vol. 8, no. 11, Article ID 5200558, 10 pages, 2000 - 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 - Current Opinion in Neurology, vol. 12, no. 1, pp. 35–39, 1999
- Analytical Chemistry, vol. 70, no. 23, pp. 5085–5092, 1998
- Connexin-26 mutations in sporadic and inherited sensorineural deafness
The Lancet, vol. 351, no. 9100, pp. 394–398, 1998 - Integrated Cell Isolation and Polymerase Chain Reaction Analysis Using Silicon Microfilter Chambers
Analytical Biochemistry, vol. 257, no. 2, pp. 95–100, 1998 - 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 - 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 - Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis
Journal of Chromatography A, vol. 781, no. 1-2, pp. 295–305, 1997 - Langmuir, vol. 13, no. 2, pp. 320–329, 1997
- 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 - Human α-Thalassemia syndromes: Detection of molecular defects
American Journal of Hematology, vol. 53, no. 2, pp. 81–91, 1996 - 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 - Nucleic acid detection using non-radioactive labelling methods
Molecular and Cellular Probes, vol. 9, no. 3, pp. 145–156, 1995 - 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 - 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 - 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 - 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 - 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 - 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 - RFLPs of the phenylalanine hydroxylase gene in the Italian population
Journal of Inherited Metabolic Disease, vol. 12, no. 2, pp. 162–165, 1989