Search filters

List of works by Valeria D'Argenio

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

scientific article published on 18 September 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

scientific article

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

scientific article

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

scientific article published on 5 December 2017

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

scientific article published on 30 August 2017

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

scientific article published in May 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

scientific article published on 25 February 2014

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

scientific article (publication date: 19 May 2014)

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

scientific article

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

scientific article

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

scientific article published on 17 June 2011

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

scientific article published on 30 June 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

scientific article published on 31 March 2015

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

scientific article published on 19 February 2019

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

scientific article published on 17 November 2020

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

scientific article published on 12 August 2016

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

scientific article published on 14 April 2022

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

scientific article published on 22 November 2017

From laboratory bench to benchmark: technology transfer in laboratory medicine

scientific article published on 01 March 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.

scientific article published on January 2007

Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies

scientific article published on 27 January 2018

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

scientific article published on 16 November 2020

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

scientific article

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

scientific article published on 27 February 2018

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

scientific article published on 23 September 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

scientific article published on 13 April 2020

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

scientific article published on 10 February 2018

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

scientific article published on 30 April 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

scientific article published in November 2016

Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients.

scientific article

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

scientific article published on 26 February 2019

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

scientific article published on 26 December 2019

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

scientific article

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

scientific article published on 05 February 2014

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

scientific article

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

scientific article published on 8 August 2017

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

scientific article

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

scientific article published on 21 December 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

scientific article published on 17 April 2015

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

scientific article

Paulina is supported by:

About Paulina

Help