Lista de obras - Felice Amato - Dominio Público Uruguay

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta ⬇️

artículo científico publicado el 30 de agosto de 2011

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

artículo científico publicado en 2012

A novel polymorphism in the PAI-1 gene promoter enhances gene expression. A novel pro-thrombotic risk factor?

artículo científico publicado en 2014

An update on laboratory diagnosis of liver inherited diseases.

artículo científico publicado en 2013

Congenital Diarrheal Disorders: An Updated Diagnostic Approach ⬇️

artículo científico publicado el 29 de marzo de 2012

Design, synthesis and biochemical investigation, by in vitro luciferase reporter system, of peptide nucleic acids as new inhibitors of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression

article

Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).

artículo científico publicado en 2015

Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.

artículo científico publicado en 2011

Exploitation of a very small peptide nucleic acid as a new inhibitor of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression.

artículo científico publicado en 2014

Extensive molecular analysis of patients bearing CFTR-related disorders.

artículo científico publicado en 2011

Genetic diseases that predispose to early liver cirrhosis.

artículo científico publicado en 2014

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

artículo científico publicado en 2013

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

artículo científico publicado en 2016

MTHFR C677T allelic variant is not associated with plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization

scientific article published on 02 April 2020

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

artículo científico publicado en 2013

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

artículo científico publicado en 2011

Peptide Nucleic Acids as miRNA Target Protectors for the Treatment of Cystic Fibrosis

artículo científico publicado en 2017

SARS-CoV-2: One Year in the Pandemic. What Have We Learned, the New Vaccine Era and the Threat of SARS-CoV-2 Variants

scientific article published in 2021

TAS2R38 is a novel modifier gene in patients with cystic fibrosis

scientific article published on 02 April 2020

The kelch protein NS1-BP interacts with alpha-enolase/MBP-1 and is involved in c-Myc gene transcriptional control.

artículo científico publicado en 2007

TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior

artículo científico publicado en 2011

Tropomyosin-related kinase B receptor polymorphisms and isoforms expression in suicide victims

artículo científico publicado en 2014

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

artículo científico publicado en 2017

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

scientific article published on 30 October 2018

Lista de obras de Felice Amato

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta ⬇️

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

A novel polymorphism in the PAI-1 gene promoter enhances gene expression. A novel pro-thrombotic risk factor?

An update on laboratory diagnosis of liver inherited diseases.

Congenital Diarrheal Disorders: An Updated Diagnostic Approach ⬇️

Design, synthesis and biochemical investigation, by in vitro luciferase reporter system, of peptide nucleic acids as new inhibitors of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression

Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).

Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.

Exploitation of a very small peptide nucleic acid as a new inhibitor of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression.

Extensive molecular analysis of patients bearing CFTR-related disorders.

Genetic diseases that predispose to early liver cirrhosis.

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

MTHFR C677T allelic variant is not associated with plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

Peptide Nucleic Acids as miRNA Target Protectors for the Treatment of Cystic Fibrosis

SARS-CoV-2: One Year in the Pandemic. What Have We Learned, the New Vaccine Era and the Threat of SARS-CoV-2 Variants

TAS2R38 is a novel modifier gene in patients with cystic fibrosis

The kelch protein NS1-BP interacts with alpha-enolase/MBP-1 and is involved in c-Myc gene transcriptional control.

TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior

Tropomyosin-related kinase B receptor polymorphisms and isoforms expression in suicide victims

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene