Lista de obras - Emiliano Giardina - Dominio Público Uruguay

A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

A pharmacogenetics study in Mozambican patients treated with nevirapine: full resequencing of TRAF3IP2 gene shows a novel association with SJS/TEN susceptibility

artículo científico publicado en 2015

Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis

scientific article published on 01 November 2014

Age-related macular degeneration: insights into inflammatory genes

artículo científico publicado en 2014

Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy).

artículo científico publicado en 2012

Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients.

artículo científico publicado en 2013

Clinical trial sponsors’ refusal to communicate genetic research results to subjects

artículo científico publicado en 2013

Co-Localization of Susceptibility Loci for Psoriasis (PSORS4) and Atopic Dermatitis (ATOD2) on Human Chromosome 1q21

artículo científico publicado en 2006

Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma

artículo científico publicado en 2014

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

scientific journal article

Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

artículo científico publicado en 2011

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

artículo científico publicado en 2010

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

artículo científico publicado en 2015

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV?

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Frequency assessment of 25 SNPs in five different populations

artículo científico publicado en 2010

Frequency assessment of SNPs for forensic identification in different populations.

artículo científico publicado en 2007

Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association

article

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

artículo científico publicado en 2015

Gonadal mosaicism in hereditary angioedema

scientific article published on 01 July 2006

Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study.

artículo científico publicado en 2013

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Mapping a dominant form of multinodular goiter to chromosome Xp22

artículo científico publicado en 2000

Mapping the future of common diseases: lessons from psoriasis.

artículo científico publicado en 2007

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

artículo científico publicado en 2010

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre

artículo científico publicado en 2002

PSORS2 Markers Are Not Associated with Psoriatic Arthritis in the Italian Population

article

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

artículo científico publicado en 2015

Past, Present and Future of Forensic DNA Typing ⬇️

artículo científico publicado el 1 de febrero de 2011

Polymorphisms in ARMS2 (LOC387715) and LOXL1 Genes in the Japanese With Age-Related Macular Degeneration

article

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

artículo científico publicado en 2004

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

artículo científico publicado en 2004

R501X and 2282del4 Filaggrin Mutations Do Not Confer Susceptibility to Psoriasis and Atopic Dermatitis in Italian Patients

article

Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells

artículo científico publicado en 2011

Review of nutrient actions on age-related macular degeneration

artículo científico publicado en 2013

Role of genetics in prevention of coronary atherosclerosis.

artículo científico publicado en 2003

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

artículo científico publicado en 2012

The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045.

artículo científico publicado en 2012

The Genetics and the Genomics of Primary Congenital Glaucoma

artículo científico publicado en 2015

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

artículo científico publicado el 1 de junio de 2012

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

artículo científico publicado en 2005

Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus

scholarly article by Emiliano Giardina et al published 29 November 2011 in Arthritis and Rheumatism

Variants inRUNX3Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis

article

Whole genome amplification and real-time PCR in forensic casework

artículo científico publicado en 2009

Lista de obras de Emiliano Giardina

A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01.

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

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

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

A pharmacogenetics study in Mozambican patients treated with nevirapine: full resequencing of TRAF3IP2 gene shows a novel association with SJS/TEN susceptibility

Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis

Age-related macular degeneration: insights into inflammatory genes

Allele frequencies of the new European Standard Set (ESS) loci in a population of Apulia (Southern Italy).

Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients.

Clinical trial sponsors’ refusal to communicate genetic research results to subjects

Co-Localization of Susceptibility Loci for Psoriasis (PSORS4) and Atopic Dermatitis (ATOD2) on Human Chromosome 1q21

Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing.

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

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

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

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01.

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

Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV?

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

Frequency assessment of 25 SNPs in five different populations

Frequency assessment of SNPs for forensic identification in different populations.

Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

Gonadal mosaicism in hereditary angioedema

Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study.

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations

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

Mapping a dominant form of multinodular goiter to chromosome Xp22

Mapping the future of common diseases: lessons from psoriasis.

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre

PSORS2 Markers Are Not Associated with Psoriatic Arthritis in the Italian Population

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

Past, Present and Future of Forensic DNA Typing ⬇️

Polymorphisms in ARMS2 (LOC387715) and LOXL1 Genes in the Japanese With Age-Related Macular Degeneration

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

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

R501X and 2282del4 Filaggrin Mutations Do Not Confer Susceptibility to Psoriasis and Atopic Dermatitis in Italian Patients

Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells

Review of nutrient actions on age-related macular degeneration

Role of genetics in prevention of coronary atherosclerosis.

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

The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045.

The Genetics and the Genomics of Primary Congenital Glaucoma

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

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.

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

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus

Variants inRUNX3Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis

Whole genome amplification and real-time PCR in forensic casework