Emiliano Giardina

Summary

Affiliation: University of Rome Tor Vergata
Country: Italy

Publications

  1. doi request reprint Past, present and future of forensic DNA typing
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Nanomedicine (Lond) 6:257-70. 2011
  2. pmc Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy
    Curr Genomics 9:110-4. 2008
  3. pmc The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods
    Laura Stocchi
    Universita degli Studi di Roma Tor Vergata, Centro di Eccellenza per lo Studio del Rischio Genomico in Patologie Complesse Multifattoriali, Roma, Italy
    Curr Genomics 13:314-20. 2012
  4. doi request reprint A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7
    Emiliano Giardina
    Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy
    Electrophoresis 30:2008-11. 2009
  5. doi request reprint A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15
    Emiliano Giardina
    Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy
    Electrophoresis 29:4775-9. 2008
  6. doi request reprint A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01
    Emiliano Giardina
    Department of Biopathology, Tor Vergata University of Rome, Italy
    Electrophoresis 31:3525-30. 2010
  7. ncbi request reprint PSORS2 markers are not associated with psoriatic arthritis in the Italian population
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Hum Hered 61:120-2. 2006
  8. pmc In silico and in vitro comparative analysis to select, validate and test SNPs for human identification
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy
    BMC Genomics 8:457. 2007
  9. pmc Whole genome amplification and real-time PCR in forensic casework
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    BMC Genomics 10:159. 2009
  10. ncbi request reprint Frequency assessment of SNPs for forensic identification in different populations
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Forensic Sci Int Genet 1:e1-3. 2007

Collaborators

Detail Information

Publications36

  1. doi request reprint Past, present and future of forensic DNA typing
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Nanomedicine (Lond) 6:257-70. 2011
    ..Nowadays, we can individualize single cells left at the crime scene or analyze ancient human remains. Here, we provide a general view on the past, current and likely future directions of forensic DNA analysis...
  2. pmc Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy
    Curr Genomics 9:110-4. 2008
    ....
  3. pmc The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods
    Laura Stocchi
    Universita degli Studi di Roma Tor Vergata, Centro di Eccellenza per lo Studio del Rischio Genomico in Patologie Complesse Multifattoriali, Roma, Italy
    Curr Genomics 13:314-20. 2012
    ..In this review, we provide a summary of the available techniques used by laboratories to genotype HLA-B*57:01, outlining the scientific and pharmacoeconomics pros and cons...
  4. doi request reprint A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7
    Emiliano Giardina
    Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy
    Electrophoresis 30:2008-11. 2009
    ..Here we developed and validated, for the first time, an effective, CE-based method for a rapid and economic detection based on two-fluorescent STR multiplexes...
  5. doi request reprint A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15
    Emiliano Giardina
    Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy
    Electrophoresis 29:4775-9. 2008
    ..In this work we developed and validated a two fluorescent STRs multiplex assay for a rapid, economic and fully informative detection of UPD 15 by capillary electrophoresis...
  6. doi request reprint A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01
    Emiliano Giardina
    Department of Biopathology, Tor Vergata University of Rome, Italy
    Electrophoresis 31:3525-30. 2010
    ..The results of our study were first compared with a standard sequence-specific primer PCR technique and reported a concordance of 100%, and then a blind external validation further confirmed the accuracy of our method...
  7. ncbi request reprint PSORS2 markers are not associated with psoriatic arthritis in the Italian population
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Hum Hered 61:120-2. 2006
    ..Our results ruled out PSORS2 alleles as susceptibility factors in arthritis psoriatic patients of Italian origin and suggested that previous linkage signal reported for chromosome 17q25 should be independent on the presence of PsA...
  8. pmc In silico and in vitro comparative analysis to select, validate and test SNPs for human identification
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy
    BMC Genomics 8:457. 2007
    ..Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results...
  9. pmc Whole genome amplification and real-time PCR in forensic casework
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    BMC Genomics 10:159. 2009
    ..A 26-SNPs TaqMan panel specifically designed for low copy number (LCN) and/or severely degraded genomic DNA was typed on 100 genomic as well as amplified DNA samples...
  10. ncbi request reprint Frequency assessment of SNPs for forensic identification in different populations
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Forensic Sci Int Genet 1:e1-3. 2007
    ..The populations analyzed included Africans from Benin Gulf (180), Asians from Mongolia (160) and Europeans from Italy (680)...
  11. doi request reprint Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population
    Federico Ricci
    Unità Operative Semplici Dipartimentali Patologia Retinica Fondazione PTV Policlinico Tor Vergata, Rome, Italy
    Arch Ophthalmol 127:1368-72. 2009
    ....
  12. ncbi request reprint Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    J Invest Dermatol 122:1106-7. 2004
    ....
  13. doi request reprint Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims
    Ilenia Pietrangeli
    Department of Biopathology and Diagnostic Imaging, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Tor Vergata, Rome, Italy
    J Forensic Sci 54:905-8. 2009
    ..Our analysis indicated that remains recovered in grave number 329 do not belong to MM. This result suggests that genetic analysis of the remains should be also applied to the other 12 unknown corpses to elucidate their identity...
  14. doi request reprint Frequency assessment of 25 SNPs in five different populations
    Ilenia Pietrangeli
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Forensic Sci Int Genet 4:e131-3. 2010
    ..26 x 10(-10) in the Spanish population, 2.13 x 10(-10) in the Croatian population, 4.21 x 10(-10) in the Bulgarian population, 2.52 x 10(-10) in the Serbian population and 1.46 x 10(-10) in the Turkish population...
  15. ncbi request reprint Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population
    Paola Borgiani
    Centro di Eccellenza per lo Studio del Rischio Genomico in Patologie Complesse Multifattoriali, Facolta di Medicina, Universita di Roma Tor Vergata, Via Montpellier 1, Italy
    Eur J Dermatol 12:540-2. 2002
    ..We failed to observe any significant difference between patients and controls, thereby excluding the presence of a strong genetic association between CARD15 gene polymorphisms and psoriasis, in the Italian population...
  16. doi request reprint Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus
    Emiliano Giardina
    University of Rome Tor Vergata and Fondazione Policlinico Tor Vergata, Rome, Italy
    Arthritis Rheum 63:3801-6. 2011
    ..The aim of this study was to replicate the independent association of TNF*-857 in patients with PsA...
  17. doi request reprint Identification of deletion carriers in X-linked chronic granulomatous disease by real-time PCR
    Maria Chiriaco
    Department of Public Health and Cellular Biology, University of Rome Tor Vergata, Rome, Italy
    Genet Test Mol Biomarkers 13:785-9. 2009
    ..Quantitative real-time PCR is fast and simple to perform, and we propose it as a new routine diagnostic approach to detect CGD carriers of deletions covering the region spanning the CYBB gene...
  18. ncbi request reprint Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study
    Ettore Capoluongo
    Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, School of Medicine, Catholic University, Largo F Vito 1, 00168, Rome, Italy
    Intensive Care Med 33:1787-94. 2007
    ..Several MBL2 genetic variants have been described, including the six variants studied in this report, which are those analyzed in most detail in the medical literature...
  19. doi request reprint Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations
    Raffaella Cascella
    Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Electrophoresis 37:860-4. 2016
    ..In conclusion, the Cx26 and Cx26-30 molecular assays can be applied to individual, preconception, prenatal, or postnatal screening for the causative-mutations of NSHL. ..
  20. ncbi request reprint Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21
    Emiliano Giardina
    Department of Biopathology and Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University, Rome, Italy
    Hum Hered 61:229-36. 2006
    ..However, expression profiles of LOR in skin biopsies have shown reduced levels in PS and increased levels in ATOD, suggesting the existence of a specific misregulation in LOR mRNA production...
  21. doi request reprint TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in inflammatory bowel disease
    Cinzia Ciccacci
    Department of Biopathology and Diagnostic Imaging, Section of Genetics, School of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy
    J Crohns Colitis 7:44-52. 2013
    ..The association with psoriasis was also assessed in a secondary analysis...
  22. pmc The Genetics and the Genomics of Primary Congenital Glaucoma
    Raffaella Cascella
    Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy Emotest Laboratory, 80078 Pozzuoli, Italy
    Biomed Res Int 2015:321291. 2015
    ..Given the strong PGC heterogeneity, pre- and posttest genetic counseling plays an essential role in the achievement of an appropriate management of PCG, in terms of medical, social, and psychological impact of the disease. ..
  23. ncbi request reprint Mapping the future of common diseases: lessons from psoriasis
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy
    Front Biosci 12:1563-73. 2007
    ..Indeed to date, mapping genes which contribute to complex diseases is one of the major challenge in the post-genomic era...
  24. pmc A pharmacogenetics study in Mozambican patients treated with nevirapine: full resequencing of TRAF3IP2 gene shows a novel association with SJS/TEN susceptibility
    Cinzia Ciccacci
    Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Rome 00133, Italy
    Int J Mol Sci 16:5830-8. 2015
    ..027, OR = 4.39 (95% CI 1.19-16.23)). In conclusion, our study suggests that a variant in TRAF3IP2 gene could be involved in susceptibility to SJS/TEN. ..
  25. doi request reprint Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases
    Paola Spitalieri
    1 Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, 00133, Italy
    Cell Reprogram 17:275-87. 2015
    ..These data suggest that hiPSCs-CV/AF can be considered a valid cellular model to accomplish pathogenesis studies and therapeutic applications. ..
  26. doi request reprint Stevens-Johnson syndrome and toxic epidermal necrolysis: an update on pharmacogenetics studies in drug-induced severe skin reaction
    Sara Rufini
    Department of Biomedicine and Prevention, Genetics Unit, University of Rome Tor Vergata, Italy
    Pharmacogenomics 16:1989-2002. 2015
    ....
  27. ncbi request reprint A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
    Emanuela Bonifazi
    Department of Biopathology and Diagnosting Imaging, Tor Vergata University of Rome, Rome, Italy
    Diagn Mol Pathol 13:164-6. 2004
    ..This method is quick, sensitive, and reproducible, and it reduces the cost of diagnostic laboratory processing for DM2 diagnosis...
  28. ncbi request reprint The psoriasis genetics as a model of complex disease
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Curr Drug Targets Inflamm Allergy 3:129-36. 2004
    ..Understanding the genetic basis of psoriasis will represent a major advance in our understanding of the disease and will reveal novel disease-specific biologic pathways...
  29. ncbi request reprint Role of genetics in prevention of coronary atherosclerosis
    Giuseppe Novelli
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Curr Opin Cardiol 18:368-71. 2003
    ..Here, we review these advances with regard to genome scan results and candidate gene analysis...
  30. doi request reprint Review of nutrient actions on age-related macular degeneration
    Stefania Zampatti
    Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Nutr Res 34:95-105. 2014
    ..Thus, future studies are required to examine the effects that nutrients have on AMD and to determine which factors are most strongly correlated with reducing the risk of AMD or preventing its progression. ..
  31. doi request reprint Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing
    Raffaella Cascella
    Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Pharmacogenomics 16:1039-46. 2015
    ..Our work aimed to designate the optimal DNA source for pharmacogenetic assays, such as the screening for HLA-B*57:01 allele...
  32. doi request reprint Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis
    Adalgisa Pietropolli
    Clinical Department of Surgery, Division of Gynecology and Prenatal Diagnosis, Tor Vergata University Hospital, Rome, Italy
    J Matern Fetal Neonatal Med 27:1656-60. 2014
    ....
  33. ncbi request reprint Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family
    Paola Concolino
    Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry Catholic University, Rome, Italy
    Clin Chim Acta 364:298-302. 2006
    ..The analysis of linkage between specific mutations and this SNPs, especially if focused on genetic familial studies, may improve the quality of genetic analysis of 21-hydroxylase deficiency...
  34. ncbi request reprint R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients
    Emiliano Giardina
    Dermatology 216:83-4. 2008
  35. ncbi request reprint Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees
    Sabrina Semprini
    Cattedra di Genetica, Edificio E Nord, piano terra, Universita di Roma Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
    Hum Genet 111:310-3. 2002
    ..Thus, our data provide preliminary evidence for a locus-specific molecular mechanism underlying psoriasis susceptibility...