Lista de obras - Valeria D'Argenio - Dominio Público Uruguay

A First Look at an Automated Pipeline for NGS-Based Breast-Cancer Diagnosis: The CArDIGAN Approach

scholarly article published 2016

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

scientific article published on 28 September 2019

A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.

scientific article published on 21 December 2016

A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study

artículo científico publicado en 2018

A polymorphism at the translation start site of the vitamin D receptor gene is associated with the response to anti-osteoporotic therapy in postmenopausal women from southern Italy

artículo científico publicado en 2015

A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice

artículo científico publicado en 2015

Altered Bioenergetic Profile in Umbilical Cord and Amniotic Mesenchymal Stem Cells from Newborns of Obese Women

artículo científico publicado en 2017

Altered miR-193a-5p expression in children with cow's milk allergy.

artículo científico publicado en 2017

An altered gut microbiome profile in a child affected by Crohn's disease normalized after nutritional therapy

artículo científico publicado en 2013

Celiac disease-associated Neisseria flavescens decreases mitochondrial respiration in CaCo-2 epithelial cells: Impact of Lactobacillus paracasei CBA L74 on bacterial-induced cellular imbalance

scientific article published on 20 May 2019

Characterization of the Duodenal Mucosal Microbiome in Obese Adult Subjects by 16S rRNA Sequencing

scientific article published on 29 March 2020

Comparative metagenomic analysis of human gut microbiome composition using two different bioinformatic pipelines

artículo científico publicado en 2014

Complete sequencing of Novosphingobium sp. PP1Y reveals a biotechnologically meaningful metabolic pattern

artículo científico publicado en 2014

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

artículo científico publicado en 2015

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies

artículo científico publicado en 2013

De novo sequencing and assembly of the whole genome of Novosphingobium sp. strain PP1Y.

artículo científico publicado en 2011

Detection of colonic dysplasia in patients with ulcerative colitis using a targeted fluorescent peptide and confocal laser endomicroscopy: A pilot study

artículo científico publicado en 2017

Differences in DNA methylation profile of Th1 and Th2 cytokine genes are associated with tolerance acquisition in children with IgE-mediated cow's milk allergy

artículo científico publicado en 2015

Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells: The Neuroblastoma Case Study

artículo científico publicado en 2019

Duodenal Metatranscriptomics to Define Human and Microbial Functional Alterations Associated with Severe Obesity: A Pilot Study

artículo científico publicado en 2020

Epigenetic features of FoxP3 in children with cow's milk allergy

artículo científico publicado en 2016

Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment

artículo científico publicado en 2022

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

artículo científico publicado en 2017

From laboratory bench to benchmark: technology transfer in laboratory medicine

artículo científico publicado en 2020

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

scientific article published on 08 May 2020

Haemophilia A: molecular insights.

artículo científico publicado en 2007

Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies

artículo científico publicado en 2018

Inhibition of 37/67kDa Laminin-1 Receptor Restores APP Maturation and Reduces Amyloid-β in Human Skin Fibroblasts from Familial Alzheimer's Disease

artículo científico publicado en 2020

Metagenomics Reveals Dysbiosis and a Potentially Pathogenic N. flavescens Strain in Duodenum of Adult Celiac Patients

artículo científico publicado en 2016

Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1-TGF-β-OTX2-SNAIL via PTEN inhibition.

artículo científico publicado en 2018

Microbiome Influence in the Pathogenesis of Prion and Alzheimer's Diseases

artículo científico publicado en 2019

Microbiota and Human Reproduction: The Case of Female Infertility

scientific article published on 03 May 2020

Microbiota and Human Reproduction: The Case of Male Infertility

artículo científico publicado en 2020

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

artículo científico publicado en 2018

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

artículo científico publicado en 2008

New Insights into the Molecular Bases of Familial Alzheimer's Disease

scientific article published on 19 April 2020

No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients

artículo científico publicado en 2016

Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients.

artículo científico publicado en 2018

Publisher Correction: Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow's milk allergy: the EPICMA study

scientific article published on 26 June 2019

Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow's milk allergy: the EPICMA study

artículo científico publicado en 2019

Setup of Quantitative PCR for Oral Neisseria spp. Evaluation in Celiac Disease Diagnosis

artículo científico publicado en 2019

Sex-Comparative Analysis of the miRNome of Human Amniotic Mesenchymal Stem Cells During Obesity.

artículo científico publicado en 2016

Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

artículo científico publicado en 2014

The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing

artículo científico publicado en 2017

The High-Throughput Analyses Era: Are We Ready for the Data Struggle?

scholarly article published 2 March 2018

The Molecular Hallmarks of the Serrated Pathway in Colorectal Cancer

scientific article published on 20 July 2019

The Prenatal Microbiome: A New Player for Human Health

article

The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth

artículo científico publicado en 2017

The analysis of the inflorescence miRNome of the orchid Orchis italica reveals a DEF-like MADS-box gene as a new miRNA target

artículo científico publicado en 2014

The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated "magic" RNA polymerase

artículo científico publicado en 2016

The evolving role of genetic tests in reproductive medicine

scientific article published on 14 August 2019

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

artículo científico publicado en 2015

miR-138/miR-222 Overexpression Characterizes the miRNome of Amniotic Mesenchymal Stem Cells in Obesity

artículo científico publicado en 2016

Lista de obras de Valeria D'Argenio

A First Look at an Automated Pipeline for NGS-Based Breast-Cancer Diagnosis: The CArDIGAN Approach

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.

A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study

A polymorphism at the translation start site of the vitamin D receptor gene is associated with the response to anti-osteoporotic therapy in postmenopausal women from southern Italy

A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice

Altered Bioenergetic Profile in Umbilical Cord and Amniotic Mesenchymal Stem Cells from Newborns of Obese Women

Altered miR-193a-5p expression in children with cow's milk allergy.

An altered gut microbiome profile in a child affected by Crohn's disease normalized after nutritional therapy

Celiac disease-associated Neisseria flavescens decreases mitochondrial respiration in CaCo-2 epithelial cells: Impact of Lactobacillus paracasei CBA L74 on bacterial-induced cellular imbalance

Characterization of the Duodenal Mucosal Microbiome in Obese Adult Subjects by 16S rRNA Sequencing

Comparative metagenomic analysis of human gut microbiome composition using two different bioinformatic pipelines

Complete sequencing of Novosphingobium sp. PP1Y reveals a biotechnologically meaningful metabolic pattern

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies

De novo sequencing and assembly of the whole genome of Novosphingobium sp. strain PP1Y.

Detection of colonic dysplasia in patients with ulcerative colitis using a targeted fluorescent peptide and confocal laser endomicroscopy: A pilot study

Differences in DNA methylation profile of Th1 and Th2 cytokine genes are associated with tolerance acquisition in children with IgE-mediated cow's milk allergy

Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells: The Neuroblastoma Case Study

Duodenal Metatranscriptomics to Define Human and Microbial Functional Alterations Associated with Severe Obesity: A Pilot Study

Epigenetic features of FoxP3 in children with cow's milk allergy

Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

From laboratory bench to benchmark: technology transfer in laboratory medicine

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

Haemophilia A: molecular insights.

Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies

Inhibition of 37/67kDa Laminin-1 Receptor Restores APP Maturation and Reduces Amyloid-β in Human Skin Fibroblasts from Familial Alzheimer's Disease

Metagenomics Reveals Dysbiosis and a Potentially Pathogenic N. flavescens Strain in Duodenum of Adult Celiac Patients

Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1-TGF-β-OTX2-SNAIL via PTEN inhibition.

Microbiome Influence in the Pathogenesis of Prion and Alzheimer's Diseases

Microbiota and Human Reproduction: The Case of Female Infertility

Microbiota and Human Reproduction: The Case of Male Infertility

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

New Insights into the Molecular Bases of Familial Alzheimer's Disease

No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients

Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients.

Publisher Correction: Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow's milk allergy: the EPICMA study

Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow's milk allergy: the EPICMA study

Setup of Quantitative PCR for Oral Neisseria spp. Evaluation in Celiac Disease Diagnosis

Sex-Comparative Analysis of the miRNome of Human Amniotic Mesenchymal Stem Cells During Obesity.

Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing

The High-Throughput Analyses Era: Are We Ready for the Data Struggle?

The Molecular Hallmarks of the Serrated Pathway in Colorectal Cancer

The Prenatal Microbiome: A New Player for Human Health

The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth

The analysis of the inflorescence miRNome of the orchid Orchis italica reveals a DEF-like MADS-box gene as a new miRNA target

The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated "magic" RNA polymerase

The evolving role of genetic tests in reproductive medicine

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

miR-138/miR-222 Overexpression Characterizes the miRNome of Amniotic Mesenchymal Stem Cells in Obesity