Emiliano Giardina

Emiliano Giardina

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Emiliano Giardina

Emiliano Giardina

Publications by authors named "Emiliano Giardina"

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Towards the application of precision medicine in Age-Related Macular Degeneration.

Prog Retin Eye Res 2018 03 29;63:132-146. Epub 2017 Nov 29.

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Via Ardeatina 354, 00142, Rome, Italy; Department of Biomedicine and Prevention, ''Tor Vergata'' University, Via Montpellier 1, 00133, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2017.11.004DOI Listing
March 2018

Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved.

Mol Genet Metab 2018 01 26;123(1):43-49. Epub 2017 Nov 26.

General Director of Azienda Ospedaliera Ospedali Riuniti Marche Nord, Pesaro, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.009DOI Listing
January 2018

Next Generation Sequencing and ALS: known genes, different phenotyphes.

Arch Ital Biol 2017 Dec;155(4):110-117

I.R.C.C.S. I.N.M. Neuromed, via Atinense 18, 86077, Pozzilli (IS), Italy - Email:

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http://dx.doi.org/10.12871/00039829201742DOI Listing
December 2017

Making progress in education: The EUROFORGEN master degree pilot project in forensic genetics.

Forensic Sci Int Genet 2017 05 6;28:e12-e13. Epub 2017 Mar 6.

Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1016/j.fsigen.2017.03.006DOI Listing
May 2017

The Genetics and the Genomics of Primary Congenital Glaucoma.

Biomed Res Int 2015 16;2015:321291. Epub 2015 Sep 16.

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy ; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy.

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http://dx.doi.org/10.1155/2015/321291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588317PMC
August 2016

Replication of a distinct psoriatic arthritis risk variant at the IL23R locus.

Ann Rheum Dis 2016 07 25;75(7):1417-8. Epub 2016 Mar 25.

Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, The University of Manchester, UK NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester, UK The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2016-209290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941176PMC
July 2016

Pharmacogenomics of multifactorial diseases: a focus on psoriatic arthritis.

Pharmacogenomics 2016 06 7;17(8):943-51. Epub 2016 Jun 7.

Department of Biomedicine & Prevention, School of Medicine, University of Rome "Tor Vergata", via Montpellier 1, 00133 Rome, Italy.

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http://dx.doi.org/10.2217/pgs.16.20DOI Listing
June 2016

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.

Electrophoresis 2016 Mar 15;37(5-6):860-4. Epub 2016 Jan 15.

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata,", Rome, Italy.

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http://dx.doi.org/10.1002/elps.201500346DOI Listing
March 2016

Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts.

Exp Cell Res 2016 Mar 19;342(1):39-51. Epub 2016 Feb 19.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yexcr.2016.02.013DOI Listing
March 2016

Stevens-Johnson syndrome and toxic epidermal necrolysis: an update on pharmacogenetics studies in drug-induced severe skin reaction.

Pharmacogenomics 2015 Nov 10;16(17):1989-2002. Epub 2015 Nov 10.

Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.

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http://dx.doi.org/10.2217/pgs.15.128DOI Listing
November 2015

PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus.

Ann Rheum Dis 2015 Oct 28;74(10):1882-5. Epub 2015 Apr 28.

Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Institute for Inflammation and Repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2014-207187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602265PMC
October 2015

FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation.

J Am Acad Dermatol 2015 Sep;73(3):528-9

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", Rome, Italy; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaad.2015.06.022DOI Listing
September 2015

Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.

Nat Commun 2015 Feb 5;6:6046. Epub 2015 Feb 5.

1] Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester M13 9PT, UK [2] NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester M13 9WU, UK.

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http://dx.doi.org/10.1038/ncomms7046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4327416PMC
February 2015

Age-related macular degeneration: insights into inflammatory genes.

J Ophthalmol 2014 12;2014:582842. Epub 2014 Nov 12.

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", Via Montpellier 1, 00133 Rome, Italy ; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Via Ardeatina 354, 00142 Rome, Italy.

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http://dx.doi.org/10.1155/2014/582842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247975PMC
December 2014

Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis.

J Matern Fetal Neonatal Med 2014 Nov 9;27(16):1656-60. Epub 2014 Apr 9.

Clinical Department of Surgery, Division of Gynecology and Prenatal Diagnosis, Tor Vergata University Hospital , Rome , Italy .

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http://dx.doi.org/10.3109/14767058.2013.871697DOI Listing
November 2014

Clinical trial sponsors' refusal to communicate genetic research results to subjects.

Patient Educ Couns 2014 Apr 11;95(1):157-8. Epub 2013 Dec 11.

Institute for Legal Studies, Università Cattolica di Milano, Italy.

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http://dx.doi.org/10.1016/j.pec.2013.12.001DOI Listing
April 2014

Review of nutrient actions on age-related macular degeneration.

Nutr Res 2014 Feb 4;34(2):95-105. Epub 2013 Nov 4.

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", Rome, Italy; Laboratorio di Genetica Molecolare UILDM, Fondazione Santa Lucia, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02715317130026
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http://dx.doi.org/10.1016/j.nutres.2013.10.011DOI Listing
February 2014

TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in inflammatory bowel disease.

J Crohns Colitis 2013 Feb 24;7(1):44-52. Epub 2012 Mar 24.

Department of Biopathology and Diagnostic Imaging, Section of Genetics, School of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.

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http://dx.doi.org/10.1016/j.crohns.2012.02.020DOI Listing
February 2013

The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods.

Curr Genomics 2012 Jun;13(4):314-20

Università degli Studi di Roma Tor Vergata, Centro di Eccellenza per lo Studio del Rischio Genomico in Patologie Complesse Multifattoriali, Roma, Italy.

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http://www.eurekaselect.com/openurl/content.php?genre=articl
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http://dx.doi.org/10.2174/138920212800793311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394119PMC
June 2012

Past, present and future of forensic DNA typing.

Nanomedicine (Lond) 2011 Feb;6(2):257-70

Centre of Excellence for Genomic Risk Assessment in Multifactorial & Complex Diseases, School of Medicine, University of Rome Tor Vergata, Rome, Italy.

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https://www.futuremedicine.com/doi/10.2217/nnm.10.160
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http://dx.doi.org/10.2217/nnm.10.160DOI Listing
February 2011

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

Nat Genet 2010 Nov 17;42(11):985-90. Epub 2010 Oct 17.

Wellcome Trust Centre for Human Genetics, Oxford, UK.

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http://dx.doi.org/10.1038/ng.694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749730PMC
November 2010

Frequency assessment of 25 SNPs in five different populations.

Forensic Sci Int Genet 2010 Oct 20;4(5):e131-3. Epub 2010 Feb 20.

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1016/j.fsigen.2010.01.017DOI Listing
October 2010

Identification of deletion carriers in X-linked chronic granulomatous disease by real-time PCR.

Genet Test Mol Biomarkers 2009 Dec;13(6):785-9

Department of Public Health and Cellular Biology, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1089/gtmb.2009.0074DOI Listing
December 2009

Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims.

J Forensic Sci 2009 Jul 17;54(4):905-8. Epub 2009 Apr 17.

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.

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http://dx.doi.org/10.1111/j.1556-4029.2009.01052.xDOI Listing
July 2009

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.

BMC Med Genet 2009 Jul 22;10:72. Epub 2009 Jul 22.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A, Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1186/1471-2350-10-72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718876PMC
July 2009

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.

Electrophoresis 2009 Jun;30(11):2008-11

Department of Biopathology, Centre of Excellence for Genomic risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy.

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http://dx.doi.org/10.1002/elps.200800744DOI Listing
June 2009

Whole genome amplification and real-time PCR in forensic casework.

BMC Genomics 2009 Apr 14;10:159. Epub 2009 Apr 14.

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy.

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http://dx.doi.org/10.1186/1471-2164-10-159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675535PMC
April 2009

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.

Electrophoresis 2008 Dec;29(23):4775-9

Department of Biopathology, Centre of Excellence for Genomic risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy.

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http://dx.doi.org/10.1002/elps.200800047DOI Listing
December 2008

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations.

Curr Genomics 2008 Apr;9(2):110-4

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy.

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http://dx.doi.org/10.2174/138920208784139528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674805PMC
April 2008

In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.

BMC Genomics 2007 Dec 12;8:457. Epub 2007 Dec 12.

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy.

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http://dx.doi.org/10.1186/1471-2164-8-457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222643PMC
December 2007

Frequency assessment of SNPs for forensic identification in different populations.

Forensic Sci Int Genet 2007 Dec 19;1(3-4):e1-3. Epub 2007 Jun 19.

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.fsigen.2007.05.002DOI Listing
December 2007

Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study.

Intensive Care Med 2007 Oct 26;33(10):1787-94. Epub 2007 Jul 26.

Laboratory of Clinical Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, School of Medicine, Catholic University, Largo F. Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s00134-007-0793-xDOI Listing
October 2007

Mapping the future of common diseases: lessons from psoriasis.

Front Biosci 2007 Jan 1;12:1563-73. Epub 2007 Jan 1.

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy.

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http://dx.doi.org/10.2741/2169DOI Listing
January 2007

Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21.

Hum Hered 2006 15;61(4):229-36. Epub 2006 Aug 15.

Department of Biopathology and Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University, Rome, Italy.

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http://dx.doi.org/10.1159/000095059DOI Listing
December 2006

PSORS2 markers are not associated with psoriatic arthritis in the Italian population.

Hum Hered 2006 30;61(2):120-2. Epub 2006 May 30.

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy.

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http://dx.doi.org/10.1159/000093529DOI Listing
August 2006

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.

Clin Chim Acta 2006 Feb 19;364(1-2):298-302. Epub 2005 Sep 19.

Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry Catholic University, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2005.07.020DOI Listing
February 2006

A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.

Diagn Mol Pathol 2004 Sep;13(3):164-6

Department of Biopathology and Diagnosting Imaging, Tor Vergata University of Rome, Rome, Italy.

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September 2004

The psoriasis genetics as a model of complex disease.

Curr Drug Targets Inflamm Allergy 2004 Jun;3(2):129-36

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy.

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http://dx.doi.org/10.2174/1568010043343877DOI Listing
June 2004

Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population.

J Invest Dermatol 2004 May;122(5):1106-7

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1530826
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http://dx.doi.org/10.1111/j.0022-202X.2004.22524.xDOI Listing
May 2004

Role of genetics in prevention of coronary atherosclerosis.

Curr Opin Cardiol 2003 Sep;18(5):368-71

Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy.

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http://dx.doi.org/10.1097/00001573-200309000-00008DOI Listing
September 2003

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.

Eur J Dermatol 2002 Nov-Dec;12(6):540-2

Centro di Eccellenza per lo Studio del Rischio Genomico in Patologie Complesse Multifattoriali, Facoltà di Medicina, Università di Roma Tor Vergata, Via Montpellier 1, Italy.

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March 2003

Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees.

Hum Genet 2002 Oct 21;111(4-5):310-3. Epub 2002 Aug 21.

Cattedra di Genetica, Edificio E Nord, piano terra, Università di Roma Tor Vergata, via di Tor Vergata 135, 00133 Rome, Italy.

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http://dx.doi.org/10.1007/s00439-002-0812-5DOI Listing
October 2002