Lista de obras - Marco Lucarelli - Dominio Público Uruguay

A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene

artículo científico publicado en 2006

A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis

artículo científico publicado en 2015

A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

artículo científico publicado en 2016

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation

artículo científico publicado en 2010

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family

artículo científico publicado en 2018

A template for mutational data analysis of the CFTR gene.

artículo científico publicado en 2011

Active Demethylation of Non-CpG Moieties in Animals: A Neglected Research Area ⬇️

artículo científico

Alcohol dependence and serotonin transporter functional polymorphisms 5-HTTLPR and rs25531 in an Italian population

artículo científico publicado en 2015

Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspects

artículo científico publicado en 2015

CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?

artículo científico publicado en 2020

Clinical expression of patients with the D1152H CFTR mutation

artículo científico

Comparison of two different protocols of neonatal screening for cystic fibrosis

artículo científico publicado en 2002

CpG and non-CpG Presenilin1 methylation pattern in course of neurodevelopment and neurodegeneration is associated with gene expression in human and murine brain

scientific article published on 05 February 2020

Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

artículo científico publicado en 2013

Different expression of the myotonin protein kinase gene in discrete areas of human brain.

artículo científico publicado en 1995

Disclosing bias in bisulfite assay: MethPrimers underestimate high DNA methylation

artículo científico publicado en 2015

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up

scientific article published on 01 July 2007

Early demethylation of non-CpG, CpC-rich, elements in the myogenin 5'-flanking region: a priming effect on the spreading of active demethylation.

artículo científico publicado en 2010

Environment, epigenetics and neurodegeneration: Focus on nutrition in Alzheimer's disease.

artículo científico publicado en 2014

Expression of receptors for native and chemically modified low-density lipoproteins in brain microvessels

artículo científico publicado en 1997

High frequency of (TG)mTn variant tracts in the cystic fibrosis transmembrane conductance regulator gene in men with high semen viscosity

scientific article published on 01 November 2004

Human semen hyperviscosity: prevalence, pathogenesis and therapeutic aspects

artículo científico publicado en 2009

Left-sided early-onset vs late-onset colorectal carcinoma: histologic, clinical, and molecular differences.

artículo científico publicado en 2015

Monomorphic region of the serotonin transporter promoter gene in New World monkeys.

artículo científico publicado en 2012

Nicotine Regulates Basic Fibroblastic Growth Factor and Transforming Growth Factor β1Production in Endothelial Cells

artículo científico publicado en 1999

Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system

artículo científico publicado en 2012

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

artículo científico publicado en 1995

The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes

artículo científico publicado en 2016

The complex interplay between DNA methylation and miRNAs in gene expression regulation

artículo científico publicado en 2020

The dynamics of myogenin site-specific demethylation is strongly correlated with its expression and with muscle differentiation.

artículo científico publicado en 2000

The expression of native and oxidized LDL receptors in brain microvessels is specifically enhanced by astrocytes-derived soluble factor(s)

scientific journal article

Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene

artículo científico publicado en 2019

Vitamin K deficiency and covid-19

artículo científico publicado en 2020

d-Mannose Treatment neither Affects Uropathogenic Escherichia coli Properties nor Induces Stable FimH Modifications

artículo científico publicado en 2020

Lista de obras de Marco Lucarelli

A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene

A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis

A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family

A template for mutational data analysis of the CFTR gene.

Active Demethylation of Non-CpG Moieties in Animals: A Neglected Research Area ⬇️

Alcohol dependence and serotonin transporter functional polymorphisms 5-HTTLPR and rs25531 in an Italian population

Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspects

CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?

Clinical expression of patients with the D1152H CFTR mutation

Comparison of two different protocols of neonatal screening for cystic fibrosis

CpG and non-CpG Presenilin1 methylation pattern in course of neurodevelopment and neurodegeneration is associated with gene expression in human and murine brain

Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Different expression of the myotonin protein kinase gene in discrete areas of human brain.

Disclosing bias in bisulfite assay: MethPrimers underestimate high DNA methylation

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up

Early demethylation of non-CpG, CpC-rich, elements in the myogenin 5'-flanking region: a priming effect on the spreading of active demethylation.

Environment, epigenetics and neurodegeneration: Focus on nutrition in Alzheimer's disease.

Expression of receptors for native and chemically modified low-density lipoproteins in brain microvessels

High frequency of (TG)mTn variant tracts in the cystic fibrosis transmembrane conductance regulator gene in men with high semen viscosity

Human semen hyperviscosity: prevalence, pathogenesis and therapeutic aspects

Left-sided early-onset vs late-onset colorectal carcinoma: histologic, clinical, and molecular differences.

Monomorphic region of the serotonin transporter promoter gene in New World monkeys.

Nicotine Regulates Basic Fibroblastic Growth Factor and Transforming Growth Factor β1Production in Endothelial Cells

Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes

The complex interplay between DNA methylation and miRNAs in gene expression regulation

The dynamics of myogenin site-specific demethylation is strongly correlated with its expression and with muscle differentiation.

The expression of native and oxidized LDL receptors in brain microvessels is specifically enhanced by astrocytes-derived soluble factor(s)

Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene

Vitamin K deficiency and covid-19

d-Mannose Treatment neither Affects Uropathogenic Escherichia coli Properties nor Induces Stable FimH Modifications