Paolo Fortina, M.D., Ph.D.

Cancer Biology

Research and Clinical Interest:
Genomics, technology and assay development in genomics, SNP genotype and CNV analysis for GWAS, gene discovery, pharmacogenomics

215-503-9142 FAX

Office Address
1009 BLSB
233 S. 10th St.

Email Address


M.D., University of Turin School of Medicine, Torino, Italy
Ph.D. in Pediatrics, University of Turin School of Medicine, Torino, Italy

University Appointment

1992-97    Assistant Professor of Pediatrics, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia

1998-02    Associate Professor of Pediatrics, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia

2003-06    Professor of Medicine, Department of Medicine, Thomas Jefferson University Jefferson Medical College, Philadelphia

2006-    Professor of Cancer Biology, Department of Cancer Biology, Kimmel Cancer Center, Thomas Jefferson University Jefferson Medical College, Philadelphia

Other Appointments:

2002-    Member, College of Graduate Studies, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA

2005-    Adjunct Associate Professor of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA

Editorial Positions:

1994-06    Editorial Advisory Board: Molecular and Cellular Probes
1997 -     Section Editor: European Journal of Human Genetics
2000 -    Communicating Editor: Human Mutation
2007 -     Member of Editorial Board: Human Genomics and Proteomics


PubMed Link For Fortina P

Peer Reviewed (print) Research Publications

1. Gabutti V, Piga A, Fortina P, Miniero R, Nicola P. Correlation between transfusion requirement, blood volume and haemoglobin level in homozygous beta thalassaemia. Acta Haematologica 64: 103-108, 1980.

2. Fortina P, Delgrosso K, Rappaport E, Poncz M, Ballas S, Schwartz E, Surrey S. A large deletion encompassing the entire beta-like globin gene cluster in a family of northern European extraction. Nucleic Acids Research 23:11223-11235, 1988.

3. Dianzani I, Farinasso L, Fortina P, Camaschella C, Ponzone R, Dahl H-HM, Cotton RGH, Ponzone A. RFLPs of the phenylalanine hydroxylase gene in the Italian population. Journal of Inherited Metabolic Disease 12: 162-165, 1989.

4. Fortina P, Delgrosso K, Rappaport, E, Werner E, Ballas S, Schwartz E, Surrey S. Large deletions encompassing the entire beta- and alpha-like globin gene clusters in humans. Progress in Clinical and Biological Research 316: 151-159, 1989.

5. Fortina P, Delgrosso K, Werner E, Rappaport E, Schwartz E, Surrey S. A 200 kbp deletion removing the entire beta-like globin gene cluster in a family of Irish descent. Hemoglobin 15: 23-41, 1991

6. Fortina P, Dianzani I, Serra A, Gottardi E, Saglio G, Farinasso L, Piga A, Gabutti V, Camaschella C. A newly-characterized alpha-thalassaemia-1 removes the entire alpha-like globin gene cluster in an Italian family. British Journal of Haematology 78: 529-534, 1991

7. Fortina P, Conant R, Parrella T, Rappaport E, Scanlin T, Schwartz E, Robertson J M, Surrey S. Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the DF508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Molecular and Cellular Probes 6: 353-356, 1992

8. Fortina P, Dotti G, Conant R, Monokian G, Parrella T, Hitchcock W, Rappaport E, Schwartz E, Surrey S. Detection of the most common mutations causing beta thalassemia in Mediterraneans using multiplex amplification refractory mutation system (MARMS). PCR Methods and Applications 2: 163-166, 1992

9. Fortina P, Conant R, Monokian G, Dotti G, Parrella T, Hitchcock W, Kant J, Scanlin T, Rappaport E, Schwartz E, Surrey S. Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene by multiplex allele-specific polymerase chain reaction (MASPCR). Human Genetics 90: 375-378, 1992

10. Mansfield ES, Blasband A, Kronick MN, Wrabetz L, Kaplan P, Rappaport E, Sartore M, Parrella T, Surrey S, Fortina, P. Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status. Molecular and Cellular Probes 7: 311-324, 1993

11. Mansfield ES, Robertson JM, Lebo RV, Lucero MY, Mayrand EP, Rappaport E, Parrella T, Sartore M, Surrey S, Fortina, P. Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. American Journal of Medical Genetics 48: 200-208, 1993

12. Poncz M, Rifat S, Coller BS, Newman PJ, Shattil SJ, Parrella T, Fortina P, Bennett JS. Glanzmann thrombasthenia secondary to a Gly273Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. Journal of Clinical Investigation 93: 172-179, 1994

13. Fortina P, Parrella T, Sartore M, Gottardi E, Gabutti V, Delgrosso K, Mansfield E, Rappaport E, Schwartz E, Camaschella C, Surrey S. Interaction of a rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia. Blood 83: 3356-3362, 1994

14. Iolascon A, Parrella T, Perrotta S, Guardamagna O, Coates P, Sartore M, Surrey S, Fortina P. Rapid detection of medium-chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single-strand conformation polymorphism minigels. Journal of Medical Genetics 31:551-554, 1994

15. Spinner NB, Rand E, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA. Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies. American Journal of Human Genetics 55: 238-243, 1994

16. Parrella T, Surrey S, Iolascon A, Sartore M, Heidenreich R, Diamond G, Ponzone A, Guardamagna O, Burlina AB, Cerone R, Parini R, Dionisi-Vici C, Rappaport E, Fortina P. Maple syrup urine disease (MSUD): Molecular heterogeneity in Italian patients. Journal of Inherited Metabolic Disease 17: 652-660, 1994

17. Mansfield ES, Worley JM, McKenzie S, Surrey S, Rappaport E, Fortina P. Nucleic acid detection using non-radioactive labeling methods. Molecular and Cellular Probes 9: 145-156, 1995

18. Kobayashi M, Rappaport E, Blasband A, Semeraro A, Sartore M, Surrey S, Fortina P. Fluorescence-based DNA minisequence analysis for detection of single-base changes in genomic DNA. Molecular and Cellular Probes 9: 175-182, 1995

19. Kobayashi M, Kaplan BS, Bellah RD, Sartore M, Rappaport E, Steele MW, Mansfield E, Gasparini P, Surrey S, Fortina P. Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred. Clinical observations and genetic analysis. American Journal of Medical Genetics 58: 218-224, 1995

20. Arbustini E, Grasso M, Fasani R, Klersy C, Diegoli M, Porcu E, Banchieri N, Fortina P., Danesino C., Specchia G. The angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction. British Heart Journal, 74: 584-591, 1995

21. Sartore M, Grasso M, Piccolo G, Fasani R, Bergamaschi, R, Malaspina A, Ceroni M, Kobayashi M, Semeraro A, Arbustini E, Surrey S, Fortina P. Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in Italian patients presenting with sporadic bilateral optic neuritis. Biochemical and Molecular Medicine, 56: 45-51, 1995

22. Camaschella C, Roetto A, Gasparini P, Piperno A, Fortina, P, Surrey S, Rappaport E. Allelic association of microsatellites of 6p in Italian hemochromatosis patients. Human Genetics, 97: 482-485, 1996

23. Mansfield ES, Veiner M, Enad S, Baker DL, Harris D, Rappaport E, Fortina P. Sensitivity, reproducibility and accuracy in short tandem repeat genotyping using capillary array electrophoresis. Genome Research 6: 893-903, 1996

24. Camaschella C, Roetto A, Sbaiz L, Gasparini P, Totaro A, Girelli D, Fortina P, Rappaport E, Fargion S, Piperno, A. Molecular pathogenesis of hemochromatosis. Molecular Biology of Hematopoiesis 5: 667-670, 1996

25. Cheng J, Fortina P, Surrey S, Kricka LJ, Wilding P. Microchip-based devices for molecular diagnosis of genetic diseases. Molecular Diagnosis 1: 183-200, 1996

26. Kattamis AC, Camaschella C, Sivera P, Surrey S, Fortina P. Human alpha-thalassemia syndromes: detection of molecular defects. American Journal of Hematology 53: 81-91, 1996

27. Camaschella C, Kattamis AC, Petroni D, Roetto A, Sivera P, Sbaiz L, Cohen A, Frempong K-O, Trifillis P, Surrey S, Fortina P. Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous alpha-thalassemia. American Journal of Hematology 55: 83-88, 1997

28. Kattamis AC, Kelly K, Ohene-Frempong K, Reilly MP, Keller M, Cubeddu R, Adachi K, Surrey S, Fortina P. Hb Osler [beta145 (HC2) Tyr->Asn] results from post-translational modification. Hemoglobin, 21: 109-120, 1997

29. Tamary H, Klinger G, Shalmon L, Attias D, Fortina P, Kobayashi M, Surrey S, Zaizov R. Alpha thalassemia induced by a 16 bp deletion in the 3'-untranslated region of the alpha2-gene including the first nucleotide of the poly A signal sequence. Hemoglobin, 21: 121-130, 1997

30. Larson PJ, Friedman D, Reilly M, Kattamis A, Asakura T, Fortina P, Cohen A, Kim, H, Manno C. The presurgical management of a patient with a high oxygen affinity, unstable hemoglobin variant (HbBryn Mawr) with erythrocytapheresis. Transfusion, 37: 703-707, 1997

31. Fortina P, Cheng J, Shoffner MA, Surrey S, Hitchcock W, Kricka LJ, Wilding P. Diagnosis of DMD/BMD and quantitative identification of carrier status using entangled solution capillary electrophoresis (ESCE). Clinical Chemistry 43: 745-751, 1997

32. Mansfield ES, Vainer M, Harris D, Gasparini P, Estivill X, Surrey S, Fortina P. Rapid sizing of polymorphic microsatellite markers using capillary array electrophoresis. Journal of Chromatography A, 781: 295-305, 1997

33. Chan V, Graves DJ, Fortina P, McKenzie SE. Adsorption and surface diffusion of DNA oligonucleotides at liquid/solid biosensor interfaces. Langmuir 13: 320-329, 1997

34. Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina,P. Linkage of DFNB1 to non-syndromic neurosensory autosomal recessive deafness in Mediterranean families. European Journal of Human Genetics, 5: 83-88, 1997

35. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics 6: 1605-1609, 1997.

36. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Govea N, Mansfield E, Rappaport E, Govea N, Mila' M, Zelante L, Gasparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351: 394-398, 1998

37. Meyer GA, Blum NJ, Hitchcock W, Fortina P. Absence of the Fragile X CGG trinucleotide repeat expansion in females diagnosed with a pervasive developmental disorder. Journal of Pediatrics, 133: 363-365. 1998

38. Chan V, McKenzie SE, Surrey S, Fortina P, Graves DJ. The effect of hydrophobicity and electrostatics on adsorption and surface diffusion of DNA oligonucleotides at liquid/solid interfaces. Journal of Colloid and Interface Science 203: 197-207, 1998

39. Fortina P. Applications of emerging technologies to the study of human genetics. European Journal of Human Genetics 6: 2-3, 1998

40. McKenzie S, Mansfield E, Rappaport E, Surrey S, Fortina P. Parallel molecular genetic analysis. European Journal of Human Genetics 6: 417-429, 1988

41. Wilding P, Kricka LJ, Cheng J, Hvichia G, Shoffner MA, Fortina P. Integrated cell isolation and PCR analysis using silicon microfilter-chambers. Analytical Biochemistry 257: 95-100, 1998

42. Cheng J, Waters LC, Fortina P, Hvichia G, Jacobson SC, Ramsey JM, Kricka LJ, Wilding P. Degenerate oligonucleotide primed-PCR and capillary electrophoretic analysis of human DNA on microchip-based devices. Analytical Biochemistry 257: 101-106, 1998

43. Graves DJ, Su, HJ, McKenzie SE, Surrey S, Fortina P. System for preparing microhybridization arrays on glass slides. Analytical Chemistry 270: 5085-5092, 1998

44. Arbustini E, Diegoli M, Fasani R, Grasso M, Morbini P, Banchieri N, Bellini O, Dal Bello B, Pilotto A, Magrini G, Campana C, Fortina P, Gavazzi A, Narula J, Vigano' M. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. American Journal of Pathology 153: 1501-1510, 1988

45. Gasparini P, Estivill X, Fortina P. Vestibular and hearing loss in genetic and metabolic disorders. Current Opinion in Neurology, 12: 35-39, 1999

46. Annese V, Latiano A, Bovio P, Forabosco P, Piepoli A, Lombardi G, Andreoli A, Astegiano M, Gionchetti P, Riegler G, Sturniolo GC, Clementi M, Rappaport E, Fortina P, Devoto M, Gasparini P, Andriulli A. Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus. European Journal of Human Genetics 7: 567-573, 1999

47. Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brinson E, Shulse E, Rappaport E, Fortina P. Analysis of 31 CFTR mutations by OLA-PCR in a pilot cystic fibrosis neonatal screening of 4476 newborns. Journal of Human Screening 6: 67-69, 1999

48. Sanguedolce LA, Chan V, McKenzie S, Surrey S, Fortina P, Graves D. Fundamental studies of DNA adsorption and hybridization on solid surfaces. In American Chemical Society Series: Intelligent Materials for Controlled Release, (Dinh, S and De Nuzzio, J, eds) Vol. 728, pp. 190-204. Oxford University Press, New York, NY 1999

49. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. and The Genetic Analysis Consortium of GJB2 35delG. High carrier frequency of the 35delG deafness mutation in European populations. European Journal of Human Genetics 8:19-23, 2000

50. Ming JE, Blagowidow N, Knoll JHM, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH. A submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. American Journal of Medical Genetics,92: 19-24, 2000

51. Restagno G, Gomez AM, Sbaiz L, De Gobbi M, Roetto A, Bertino E, Fabris C, Fiorucci GC, Fortina P, Camaschella C. A pilot C282Y hemochromatosis screening in Italian newborns by TaqManTM technology. Genetic Testing 4: 177-181, 2000

52. Santacroce R, Bossone A, Brancaccio V, Fortina P, Margaglione M. In the presence of other inherited or acquired high-risk situations, the FV Cambridge may be an additional thrombophilic risk factor through its effect on APC sensitivity. Thrombosis and Haemostasis, 83: 963-964, 2000

53. Forabosco P, Collins A, Latiano A, Annese V, Clementi M, Andriulli A, Fortina P, Devoto M, Morton EM. Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterize Crohn's disease and ulcerative colitis. European Journal of Human Genetics 8:846-852, 2000

54. Margaglione M, Santacroce R, Colaizzo D, Seripa D, Vecchione G, Lupone MR, De Lucia D, Fortina P, Grandone E, Di Minno G. A G to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing. Blood, 96:2501-2505, 2000

55. Fortina P, Delgrosso K, Sakazume T, Santacroce R, Moutereau S, Su H-J, Graves D, McKenzie S, Surrey S. Simple 2-color array-based approach for mutation detection. European Journal of Human Genetics 8: 884-894, 2000

56. Panaro NJ, Yuen PK, Sakazume T, Fortina P, Kricka LJ, Wilding P. Evaluation of DNA fragment sizing and quantification by the Agilent 2100 Bioanalyzer. Clinical Chemistry, 46: 1851-1852, 2000

57. Yuen P-K, Kricka LJ, Fortina P, Panaro NJ, Sakazume T, Wilding P. Microchip module for blood sample preparation and nucleic acid amplification reactions. Genome Research 11:405-412, 2001

58. Cavanaugh JA, Bryce ME, Stanford PM, Pavli P, Vermeire S, Peeters M, Vlietinck R, Rutgeerts P, Rioux JD, Silverberg MS, Steinhart AH, Siminovitch KA, Hugot JP, Lesage S, Zouali H, Paavola P, Halme L, Frkkila M, Kontula K, Annese V, Forabosco P, Fortina P, Latiano A, van Heel D, Parkes M, Lench N, Jewell D, Brant SR, Bailey-Wilson JE, Panhuysen CIM, Bayless TM, Cho JH, Bonen DK, Kirschner BS, Hanauer SB, Yang H, Taylor K, Targan SR, Rotter JI, Silver J, Gulwani-Akolkar B, Akolkar P, Lin X-Y, Duerr RH, Zhang L, Achkar JP, Baldassano RN, Daly MJ, Risch N. International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn's disease and chromosome 16. American Journal of Human Genetics 68:165-171, 2001

59. Graves DJ, Su HJ, Addya S, Surrey S, Fortina P. Four-laser scanning confocal system for microarray analysis. Biotechniques 32: 346-355, 2002

60. Kricka LJ, Fortina P, Panaro N, Wilding P, Alonso-Amigo G, Becker H. Fabrication of plastic microchips by hot embossing. Lab on a chip 2: 1-4 2002

61. Kricka L, Fortina P. Microarray technology and applications: an all-language literature survey including books and patents. Clinical Chemistry, 47:1479-1482, 2001

62. Kricka L, Fortina P. Nanotechnology and applications: An all-language literature survey including books and patents. Clinical Chemistry 48:662-665, 2002

63. Kricka L, Fortina P. Microchips: an all-language literature survey including books and patents. Clinical Chemistry, 48: 1620-1622, 2002

64. Su H-J, Surrey S, McKenzie SE, Fortina P, Graves DJ. Kinetics of heterogeneous hybridization on indium tin oxide surfaces with and without an applied potential. Electrophoresis 23: 1551-1557, 2002

65. Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz DI. Homozygosity for the V37I connexin 26 mutation in two unrelated children with sensorineural hearing loss. Clinical Genetic 61: 459-464, 2002

66. Fortina P, Surrey S, Kricka LJ. Molecular diagnostics: hurdles for clinical implementation. Trends in Molecular Medicine 8: 264-266, 2002

67. Ferraris A, Rappaport E, Santacroce R, Pollak E, Krantz I, Toth S, Margaglione M, Restagno G, Dallapiccola B, Surrey S, Fortina P. Pyrosequencing analysis for detection of mutations associated with hereditary hearing loss in the connexin 26 gene and mitochondrial DNA. Human Mutation 20:312-320, 2002

68. Kudaravalli R, Tidd T, Pinotti M, Ratti A, Santacroce R, Hung H-S, Margaglione M, Dallapiccola B, Bernardi F, Fortina P, Devoto M, Pollak ES. The decanucleotide insert at -323 in combination with polymorphisms at -401 and -122 in the Factor VII promoter influence Factor VII procoagulant levels. Thrombosis and Haemostasis 88: 763-767, 2002

69. Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, Margaglione M, Seri M, Ravazzolo R, Restagno G, Dallapiccola B, Rappaport E, Pollak ES, Surrey S, Ferrari M, Fortina P. Analysis of clinically relevant single nucleotide polymorphisms using microelectronic array technology. Clinical Chemistry 48: 2124-2130, 2002

70. Kajiyama T, Miyahara Y, Kricka LJ, Wilding P, Graves DJ, Surrey S, Fortina P. Genotyping on a thermal gradient DNA chip. Genome Research 13: 467-475, 2003

71. Annese V, Latiano A, Palmieri O, Li H-H, Forabosco P, Ferraris A, Andriulli A, Vecchi M, Ardizzone S, Cottone M, Dallapiccola B, Rappaport E, Fortina P, Devoto M. Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations. Journal of Medical Genetics 40: 837-841, 2003

72. Palmieri O, Toth S, Ferraris A, Andriulli A, Latiano A, Annese V, Dallapiccola B, Vecchi M, Devoto M, Surrey S, Fortina P. CARD15 genotyping in inflammatory bowel disease patients by multiplex Pyrosequencing. Clinical Chemistry 49: 1675-1679, 2003

73. Kricka LJ, Joos T, Fortina P. Protein microarrays: A literature survey. Clinical Chemistry 49: 2109, 2003

74. Foglieni B, Cremonesi L, Travi M, Ravani A, Giambona A, Rosatelli MC, Perra C, Fortina P, Ferrari M. Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection. Clinical Chemistry 50: 73-79, 2004

75. Lou XJ, Panaro NJ, Wilding P, Fortina P, Kricka LJ. Increased amplification efficiency of microchip-based PCR by dynamic surface passivation. Biotechniques 36: 248-252, 2004

76. Andriulli A, Annese V, Latiano A, Palmieri O, Fortina P, Ardizzone S, Cottone M, DInca R, Riegler G. The frame-shift mutation of the NOD2/CARD15 gene is significantly increased in ulcerative colitis: an *IG-IBD study. Gastroenterology 126: 625-627, 2004

77. Panaro NJ, Lou XJ, Fortina P, Kricka LJ, Wilding P. Surface effects on PCR reactions in multichip microfluidic platforms. Biomedical Microdevices 6: 75-80, 2004

78. Tang Z, McGowan B, Huber SA, McTiernan CF, Addya S, Surrey S, Kubota T, Fortina P, Higuchi Y, Diamond M, Wyre DS, Feldman AM. Gene expression profiling during the transition to failure in TNF-a over-expressing mice demonstrates the development of autoimmune myocarditis. Journal of Molecular and Cellular Cardiology 36: 515-530, 2004

79. Cowie S, Drmanac S, Swanson D, Delgrosso K, Huang S, du Sart D, Drmanac R, Surrey S, Fortina P. Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization. Human Mutation 24: 261-271, 2004

80. Lou XJ, Panaro NJ, Wilding P, Fortina P, Kricka LJ. Mutation detection using ligase-chain reaction in passivated silicon-glass microchips and microchip capillary electrophoresis. BioTechniques 32: 392-398, 2004

81. Panaro NJ, Lou XJ, Fortina P, Kricka LJ, Wilding P. Micropillar array chip for integrated white blood cell isolation and PCR. Biomolecular Engineering 21: 157-162, 2005

82. Chen W, Tang Z, Fortina P, Patel P, Addya S, Surrey S, Acheampong EA, Mukhtar M, Pomerantz RJ. Ethanol potentiates HIV-1 gp120-induced apoptosis in human neurons via both the death receptor and NMDA receptor pathways. Virology 334: 59-73, 2005

83. Ferraris A, Knafelz D, Torres B, Fortina P, Castro M, Dallapiccola P. Analysis of CARD15 gene mutations in Italian pediatric patients with inflammatory bowel disease. Journal of Pediatrics 147: 272-273, 2005

84. Kricka LJ, Park JY, LI SFY, Fortina P. Miniaturized detection technology in molecular diagnostics. Expert Review in Molecular Diagnostics 5: 549-559, 2005

85. Maris JM, Hii G, Gelfand G, Varde S, White P, Surrey S, Fortina P. Region specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform. Genome Research 15: 1168-1176, 2005

86. Fortina P, Kricka LJ, Surrey S, Grodzinski P. Nanobiotechnology: the promise and reality of new approaches to molecular recognition. Trends in Biotechnology 23: 168-173, 2005

87. Kricka LJ, Master S, Joos T, Fortina P. Current perspectives in protein microarray technology. Annals of Clinical Biochemistry 43: 457-467, 2006

88. Schirinzi A, Drmanac S, Dallapiccola B, Huang S, Scott K, De Luca A, Swanson D, Drmanac R, Surrey S, Fortina P. Combinatorial sequencing-by-hybridization: analysis of the NF1 gene. Genetic Testing 10: 8-17, 2006

89. Stewart J, Ware J, Fortina P, Breaux J, Gulati S, Kennedy A. L-selenomethionine modulates high LET radiation-induced alterations of gene expression in cultured human thyroid cells. oncology Reports 16: 569-574, 2006.

90. Waldman SA, Fortina P, Surrey S, Hyslop T, Kricka LJ, Graves DJ. Opportunities for near infrared thermal ablation of colorectal metastases by Guanylyl Cyclase C-targeted gold nanoshells. Future oncology 373: 75-88, 2006

91. Patel P, Shiao Y-H, Fortina P. Multiplex pyrosequencing for DNA variation analysis. Methods Molecular Biology 373: 75-88, 2006.

92. Fortina P, Kricka LJ, Graves DJ, Park J, Hyslop T, Surrey S, Waldman SA. Applications of nanoparticles to diagnostics and therapeutics in colorectal cancer. Trends Biotechnology 25:145-152, 2007

93. George RE, Attiyeh EF, Li S, Moreau LA, Neuberg D, Li C, Fox EA, Meyerson M, Diller L, Fortina P, Look AT, Maris JM. Genome-wide analysis of neuroblastomas using high-density single nucleotide polymorphism arrays. PLoS onE 2: e255, 2007

94. Patel P, Shiao YH, Fortina P. Multiplex pyrosequencing for DNA variation analysis. Methods Mol Biol. 373: 75-88, 2007

95. Barbarotto E, Secchiero P, Dasgupta A, Fortina P, Calin GA, Hyslop T. MicroRNAs as new players in the genomic galaxy and disease puzzles. Clinical Translational Science 1: 23-29, 2008

96. Fortina P, Surrey S. Digital mRNA profiling. Nature Biotechnology 26:293-294, 2008

97. Augustus AS, Buchanan J, Gutman E, Rengo G, Pestell RG, Fortina P, Koch WJ, Bensadoun A, Abel ED, Lisanti MP. Hearts lacking caveolin-1 develop hypertrophy with normal cardiac substrate metabolism. Cell Cycle 7: 2509-2518, 2008

98. Augustus AS, Buchanan J, Addya S, Rengo G, Pestell RG, Fortina P, Koch WJ, Bensadoun A, Abel ED, Lisanti MP. Substrate uptake and metabolism are preserved in hypertrophic caveolin-3 knockout hearts. American Journal of Physiology, Heart and Circulatory Physiology 295: 657-666, 2008

99. Battistella S, Damin F, Chiari M, Delgrosso K, Surrey S, Fortina P, Ferrari M, Cremonesi L. Genotyping beta-globin gene mutations on copolymer-coated glass slides with the ligation detection reaction. Clinical Chemistry 54: 1657-1663, 2008

100. Specchia C, Scott K, Fortina P, Devoto M, Falkner B. Association of a polymorphic variant of the analysis adiponectin gene with insulin resistance in African Americans. Clinical Translational Science 1: 194-199, 2008.

101. Kricka LJ, Fortina P. Analytical ancestry: Firsts in fluorescent labeling of nucleosides, nucleotides and nucleic acids. Clinical Chemistry 55: 670-683, 2009.

102. Levi L, Pekarski I, Gutman E, Fortina P, Hyslop T, Biran J, Levavi-Sivan B, Lubzens E. Revealing genes associated with vitellogenesis in the liver of the Zebrafish (Danio rerio) by transcriptome profiling. BMC Genomics 10: 141-153, 2009.

103. Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? European Journal of Human Genetics 2009, in press.

Manuscript under review:

Gu L, Vogiatzi P, Puhr M, Dagvadorj A, Lutz J, Ryder A, Addya S, Fortina P, Cooper C, Leiby B, Dasgupta A, Hyslop T, Bubendorf L, Alanen K, Mirtti T, Nevalainen TM. STAT5 promotes metastatic behavior of human prostate cancer cells in vitro and in vivo. Submitted 2009

Del Galdo F, Wermuth PJ, Addya S, Fortina P, Sergio A Jimenez. NFkB activation and chemokine production stimulation in normal human macrophages by the gadolinium-based magnetic resonance contrast Omniscan. Submitted 2009

Feldman G, Dalsey C, Fertala K, Bowser M, Azimi D, Barr S, Williams C, Pacifici M, Scott K, Fortina P, Devoto M, Parvizi J. Developmental dysplasia of the hip: Identification of a 4 Mb linked region on chromosome 17q21. Submitted 2009

Books and Book Chapters:

1. Berry G, Fortina P. Genetic Polymorphisms in the Mitochondrial Genome (Chapter 9). In: Genetic Polymorphisms and Susceptibility to Disease, Miller MS, Cronin MT. (eds.). Taylor and Francis, London, New York, pp. 207-229, 2000

2. Fortina P, Wilding P, Kricka LJ. Microfilter-based separation of cells (Chapter 8). In "Biochip Technology", Cheng J, and Kricka L. eds, pp 161-171, 2001. Harrowed Academic Publisher.

3. Fortina P, Graves D, Stoeckert C, Jr, McKenzie S, Surrey S. Technology options in microarrays-based molecular genetic analysis (Chapter 10). In "Biochip Technology", Cheng J, and Kricka LJ eds, pp 185-215, 2001. Harrowed Academic Publisher.

4. Mansfield E, Wilson R, Fortina P. STR-PCR analysis by capillary array electrophoresis (Part III, Chapter 12). In: Methods in Molecular Biology, Vol 163. "Capillary Electrophoresis of Nucleic Acids", vol. II: Practical Applications of Capillary Electrophoresis, pp 151-161, Cheng J, Mitchelson M. (eds). Humana Presss, Totowa, NJ, 2001

5. Fortina P, Cheng J, Kricka LJ, Waters LJ, Ramsey JM. DOP-PCR amplification of whole genomic DNA and microchip capillary electrophoresis (Part III, Chapter 17). In: Methods in Molecular Biology: "Capillary Electrophoresis of Nucleic Acids", Vol 163: Practical Applications of Capillary Electrophoresis, pp 211-219, Cheng J, Mitchelson M. (eds). Humana Presss, Totowa, NJ, 2001

6. Kajiyama T, Sakazume T, Miyahara Y, Surrey S, Graves DJ, Wilding P, Kricka LJ, Fortina P. Surface modification and hybridization on a thermal gradient DNA chip. In: Micro Total Analysis Systems 2001 Ramsey JM, van den Berg A, eds, pp 585-586. Mesa Monographs, Kluwer Academic Publishers, Boston, MA, 2001

7. Grodzinski P, Ward W, Liu R, Scott K, Surrey S, Fortina P. The use of microelectronic-based techniques in molecular diagnostic assays. In: Molecular Diagnostic TechniquesAnsorge W, Patrinos GP, eds., chapter 2, pp. 349-363. Academic Press, Elsevier Science, New York, NY, 2005

8. Kricka LJ, Fortina P. Future perspectives on nucleic acid testing. In: DNA and RNA Testing for Human Disease, A. Lorincz, ed., chapter 16, pp. 413-433. CRC Taylor and Francis, New York, NY, 2006.

9. Joos, T, Fortina P. Microarray in Clinical Diagnostics. In: Methods in Molecular Biology, Fortina P, Joos T, eds, vol. 114, pp. 1-274, Humana Presss, Totowa, NJ. 200510, 2006.

10. Fortina P, Wang J, Surrey S, Park JY, Kricka L. Beyond Microtechnology - Nanotechnology in molecular diagnosis. In: Integrated Biochips for DNA Analysis, R.H Liu and A. P. Lee, eds., chapter 13, pp 186-197. Landes Bioscience and Springer Verlag, Austin, TX, 2007.

Abstracts: (from 2006-09):

1. Fortina P. Nanotechnology-enabled direct SNP/mutation detection. LabAutomation 2006. Palm Springs, CA, January 21-25, 2006

2. Battistella S, Delgrosso K, Pritesh P, Ferrari M, Surrey S, Fortina P. Detection of beta-thalassemia mutations from genomic DNA using a gold-tagged biosensor on universal arrays. 2006 AACC - San Diego Conference. San Diego, CA, March 16-18, 2006

3. Fortina P, Specchia C, Mettil W, Scott K, Rydbeck H, Devoto M, Falkner B. SNP association analysis of adipokines and metabolic traits in obesity and hypertension. 39th Annual Meeting of the European Society of Human Genetics, Nice, F, June 16-19, 2007

4. Fortina P, Alesi V, Bernardini L, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Surrey S, Dallapiccola B. Detection of copy number variation in mental retardation using high-density arrays. American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA, November 11-15, 2008

5. Anni F, Perseu L, Satta S, Bowser M, Fortina P, Devoto M, Surrey S, Galanello R. Analysis of candidate SNPs for high Hb F in beta thalassemia intermedia patients. American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA, November 11-15, 2008

6. Anni F, Galanello R, Surrey S, Fortina P, Bowser M, Devoto. Genome-wide association study for Hb F determinants in Sardinian patients with thalassemia major and Intermedia. American Society of Hematology 50th Annual Meeting, San Francisco, CA, December 6-9, 2008

7. Mehring C, Fortina P, Scott K, Dunn S, Dasgupta A, Falkner B. Polymorphisms in the G-protein receptor kinase 4 gene are associated with blood pressure in African Americans. American Society of Nephrology Annual Meeting, Philadelphia, PA, November 4-9, 2008

8. Levi L, Pekarski I, Gutman E, Fortina P, Hyslop T, Biran J, Levavi-Sivan B, Lubzens E. Transcriptome analyses reveals genes associated with vitellogenesis in the liver of the Zebrafish (Danio rerio). International Symposium Genome in Acquaculture, Bodo University College, Bodo, Norway, July 5-7, 2009

Alternative Media:

1. Mansfield E, Fortina P. Two-color mutation detection in 96-well microplates. Molecular Dynamics Application Note 54, pp. 1-4, 1994

2. Kricka L, Surrey S, Fortina P. Multispot array technology. Encyclopedia of Life Science. Nature Publishing Group, UK, 2001 - URL:

News and Magazine Articles:

Articles covering my research work have appeared in:

- CAP Today (College of American Pathologists). March 1998, Vol. 12, N. 3, pp. 1

- Laboratory Medicine: New chip on the block. March 1999, Vol. 30, N. 3, pp. 180-188

- In Vivo - The Business & Medicine Report. April 2001, Vol 19, N. 4, pp. 35-45

- Human Mutation 2004 Vol 23, N. 5, pp. 401-405








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