List of works - Paola Borgiani

3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population

article

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article

A family study of asymptomatic small bowel Crohn's disease

scientific article published on 17 December 2013

A multilocus genetic study in a cohort of Italian SLE patients confirms the association with STAT4 gene and describes a new association with HCP5 gene

scientific article

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

scientific article published on 12 March 2015

ABCC10 rs2125739 polymorphism and nevirapine-induced hepatotoxicity: lack of association in a population from Mozambique

scientific article published in January 2013

ACP1 and human adaptability. 1. Association with common diseases: a case-control study.

scientific article published in December 1995

ATG16L1 Ala197Thr Is Not Associated With Susceptibility to Crohn’s Disease or With Phenotype in an Italian Population

article

Age-related macular degeneration: insights into inflammatory genes

scientific article

Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians.

scientific article published in November 2007

Association between CYP2B6 polymorphisms and Nevirapine-induced SJS/TEN: a pharmacogenetics study

scientific article

Autophagy and inflammatory bowel disease: Association between variants of the autophagy-related IRGM gene and susceptibility to Crohn's disease

scientific article published on 21 May 2015

Both maternal and foetal genetic factors contribute to macrosomia of diabetic pregnancy

scientific article published on 01 January 1994

CYP4F2 genetic variant (rs2108622) significantly contributes to warfarin dosing variability in the Italian population.

scientific article published in February 2009

Characterization of a novel CYP2C9 gene mutation and structural bioinformatic protein analysis in a warfarin hypersensitive patient

scientific article published on June 2011

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.

scientific article

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

article

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

scientific article

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article published on 16 February 2017

Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes

scientific article published on 18 June 2015

Crohn's disease, the mycobacterium paratuberculosis and the genetic bond: An unexpected trio

scientific article published on 11 March 2015

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

scientific article published on 9 September 2014

EPHX1 Polymorphisms Are Not Associated With Warfarin Response in an Italian Population

article

Erythrocyte acid phosphatase (ACP1) activity. In vitro modulation by adenosine and inosine and effects of adenosine deaminase (ADA) polymorphism

scientific article published on 01 January 1989

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

scientific article

Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice.

scientific article published on 15 April 2008

Further evidence that polymorphisms of the OLR1 gene are associated with susceptibility to coronary artery disease and myocardial infarction

article

Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase ⬇️

scientific article published on March 1, 2003

Genetic interactions and the environment: a study of ADA and ACP1 systems in the Sardinian population.

scientific article published in May 1995

Genotypes of cytosolic low-molecular-weight protein-tyrosine-phosphatase correlate with age at onset of type 1 diabetes in a sex-specific manner.

scientific article published in April 2002

Genotyping OLR1 Gene: A Genomic Biomarker for Cardiovascular Diseases

article

HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from Mozambique.

scientific article

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

scientific article

Haptoglobin development in newborn infants from diabetic mothers

scientific article published on 01 July 1994

High warfarin sensitivity in carriers of CYP2C9*35 is determined by the impaired interaction with P450 oxidoreductase.

scientific article published on 10 December 2013

IL-4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two-locus haplotypes are more informative than individual SNPs

scientific article published on 01 April 2002

Impact of the CYP4F2 p.V433M polymorphism on coumarin dose requirement: systematic review and meta-analysis

scientific article

Interaction between ABO blood groups and ADA genetic polymorphism during intrauterine life. A comparative analysis of couples with habitual abortion and normal puerperae delivering a live-born infant

scientific article published on 01 November 1995

Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's disease but not with phenotype in an Italian population

scientific article

Intrauterine development and MNSs blood groups in repeated spontaneous abortion.

scientific article published in May 2003

MicroRNA genetic variations: association with type 2 diabetes

scientific article published on 27 March 2013

Neonatal screening, clinical features and genetic testing for galactosemia

scientific article published on 01 March 2005

Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique

scientific article published in January 2010

OLR1 gene and coronary artery disease/acute myocardial infarction: replication in an independently collected sample

article

Phosphotyrosine protein phosphatases and diabetic pregnancy: an association between low molecular weight acid phosphatase and degree of glycemic control.

scientific article published in April 1996

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

scientific article

Role of genetics in prevention of coronary atherosclerosis.

scientific article

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

article

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

scientific article published on 24 March 2012

Type 2 diabetes and the genetics of signal transduction: a study of interaction between adenosine deaminase and acid phosphatase locus 1 polymorphisms.

scientific article

List of works by Paola Borgiani

3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

A family study of asymptomatic small bowel Crohn's disease

A multilocus genetic study in a cohort of Italian SLE patients confirms the association with STAT4 gene and describes a new association with HCP5 gene

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

ABCC10 rs2125739 polymorphism and nevirapine-induced hepatotoxicity: lack of association in a population from Mozambique

ACP1 and human adaptability. 1. Association with common diseases: a case-control study.

ATG16L1 Ala197Thr Is Not Associated With Susceptibility to Crohn’s Disease or With Phenotype in an Italian Population

Age-related macular degeneration: insights into inflammatory genes

Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians.

Association between CYP2B6 polymorphisms and Nevirapine-induced SJS/TEN: a pharmacogenetics study

Autophagy and inflammatory bowel disease: Association between variants of the autophagy-related IRGM gene and susceptibility to Crohn's disease

Both maternal and foetal genetic factors contribute to macrosomia of diabetic pregnancy

CYP4F2 genetic variant (rs2108622) significantly contributes to warfarin dosing variability in the Italian population.

Characterization of a novel CYP2C9 gene mutation and structural bioinformatic protein analysis in a warfarin hypersensitive patient

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

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

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes

Crohn's disease, the mycobacterium paratuberculosis and the genetic bond: An unexpected trio

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

EPHX1 Polymorphisms Are Not Associated With Warfarin Response in an Italian Population

Erythrocyte acid phosphatase (ACP1) activity. In vitro modulation by adenosine and inosine and effects of adenosine deaminase (ADA) polymorphism

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

Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice.

Further evidence that polymorphisms of the OLR1 gene are associated with susceptibility to coronary artery disease and myocardial infarction

Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase ⬇️

Genetic interactions and the environment: a study of ADA and ACP1 systems in the Sardinian population.

Genotypes of cytosolic low-molecular-weight protein-tyrosine-phosphatase correlate with age at onset of type 1 diabetes in a sex-specific manner.

Genotyping OLR1 Gene: A Genomic Biomarker for Cardiovascular Diseases

HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from Mozambique.

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

Haptoglobin development in newborn infants from diabetic mothers

High warfarin sensitivity in carriers of CYP2C9*35 is determined by the impaired interaction with P450 oxidoreductase.

IL-4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two-locus haplotypes are more informative than individual SNPs

Impact of the CYP4F2 p.V433M polymorphism on coumarin dose requirement: systematic review and meta-analysis

Interaction between ABO blood groups and ADA genetic polymorphism during intrauterine life. A comparative analysis of couples with habitual abortion and normal puerperae delivering a live-born infant

Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's disease but not with phenotype in an Italian population

Intrauterine development and MNSs blood groups in repeated spontaneous abortion.

MicroRNA genetic variations: association with type 2 diabetes

Neonatal screening, clinical features and genetic testing for galactosemia

Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique

OLR1 gene and coronary artery disease/acute myocardial infarction: replication in an independently collected sample

Phosphotyrosine protein phosphatases and diabetic pregnancy: an association between low molecular weight acid phosphatase and degree of glycemic control.

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

Role of genetics in prevention of coronary atherosclerosis.

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

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

Type 2 diabetes and the genetics of signal transduction: a study of interaction between adenosine deaminase and acid phosphatase locus 1 polymorphisms.