Lista de obras - Edoardo Giacopuzzi - Dominio Público Uruguay

A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

artículo científico publicado en 2018

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

artículo científico publicado en 2017

Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies

artículo científico publicado en 2016

Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

scientific article published on 10 March 2020

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

artículo científico publicado en 2013

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

artículo científico publicado en 2017

Computational and functional analysis of biopharmaceutical drugs in zebrafish: Erythropoietin as a test model.

artículo científico publicado en 2015

Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain.

artículo científico publicado en 2018

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

artículo científico publicado en 2016

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

artículo científico publicado en 2017

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

artículo científico publicado en 2018

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

artículo científico publicado en 2022

Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops.

artículo científico publicado en 2011

Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish.

artículo científico publicado en 2017

Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.

artículo científico publicado en 2015

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

scientific article published on 28 November 2019

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization

artículo científico publicado en 2014

Mesenchymal stromal cells (MSCs) induce ex vivo proliferation and erythroid commitment of cord blood haematopoietic stem cells (CB-CD34+ cells).

artículo científico publicado en 2017

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease

artículo científico publicado en 2014

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

artículo científico publicado en 2016

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

artículo científico publicado en 2018

The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia

artículo científico publicado en 2016

The effect of childhood trauma on blood transcriptome expression in major depressive disorder

scholarly article by Alessandra Minelli et al published September 2018 in Journal of Psychiatric Research

slc7a6os gene plays a critical role in defined areas of the developing CNS in zebrafish

artículo científico publicado en 2015

Lista de obras de Edoardo Giacopuzzi

A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies

Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

Computational and functional analysis of biopharmaceutical drugs in zebrafish: Erythropoietin as a test model.

Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain.

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops.

Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish.

Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization

Mesenchymal stromal cells (MSCs) induce ex vivo proliferation and erythroid commitment of cord blood haematopoietic stem cells (CB-CD34+ cells).

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia

The effect of childhood trauma on blood transcriptome expression in major depressive disorder

slc7a6os gene plays a critical role in defined areas of the developing CNS in zebrafish