Lista de obras - Chiara Magri - Dominio Público Uruguay

"GenotypeColour": colour visualisation of SNPs and CNVs

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder

article

Assessment of haptoglobin alleles in autism spectrum disorders

artículo científico publicado en 2020

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

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

artículo científico publicado en 2013

Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia

artículo científico publicado en 2016

Copy number variants in attention-deficit hyperactive disorder

scientific article published on 01 April 2015

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.

artículo científico publicado en 2014

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

From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

artículo científico publicado en 2003

Glutamate AMPA receptor subunit 1 gene (GRIA1) and DSM-IV-TR schizophrenia: a pilot case-control association study in an Italian sample

artículo científico publicado en 2006

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency

artículo científico publicado en 2009

Investigating an in silico approach for prioritizing antidepressant drug prescription based on drug-induced expression profiles and predicted gene expression

scientific article published on 17 September 2020

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

artículo científico publicado en 2015

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

artículo científico publicado en 2015

Mitochondrial DNA haplogroups and age at onset of schizophrenia

artículo científico publicado en 2007

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

artículo científico publicado en 2003

New copy number variations in schizophrenia.

artículo científico publicado en 2010

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe

artículo científico publicado en 2004

Proteasome system dysregulation and treatment resistance mechanisms in major depressive disorder

artículo científico publicado en 2015

RNA Editing and Modifications in Mood Disorders

artículo científico publicado en 2020

Role of allelic variants of FK506-binding protein 51 (FKBP5) gene in the development of anxiety disorders

artículo científico publicado en 2013

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

artículo científico publicado en 2015

Saami and Berbers--an unexpected mitochondrial DNA link

artículo científico publicado en 2005

Study on GRIA2, GRIA3 and GRIA4 genes highlights a positive association between schizophrenia and GRIA3 in female patients

artículo científico publicado en 2008

The 49a,f haplotype 11 is a new marker of the EU19 lineage that traces migrations from northern regions of the Black Sea

artículo científico publicado en 2001

The GRM7 gene, early response to risperidone, and schizophrenia: a genome-wide association study and a confirmatory pharmacogenetic analysis

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

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

artículo científico publicado en 2004

Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations

artículo científico publicado en 2003

Lista de obras de Chiara Magri

"GenotypeColour": colour visualisation of SNPs and CNVs

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

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder

Assessment of haptoglobin alleles in autism spectrum disorders

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

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene in a patient with schizophrenia

Copy number variants in attention-deficit hyperactive disorder

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.

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

From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

Glutamate AMPA receptor subunit 1 gene (GRIA1) and DSM-IV-TR schizophrenia: a pilot case-control association study in an Italian sample

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency

Investigating an in silico approach for prioritizing antidepressant drug prescription based on drug-induced expression profiles and predicted gene expression

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

Mitochondrial DNA haplogroups and age at onset of schizophrenia

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

New copy number variations in schizophrenia.

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe

Proteasome system dysregulation and treatment resistance mechanisms in major depressive disorder

RNA Editing and Modifications in Mood Disorders

Role of allelic variants of FK506-binding protein 51 (FKBP5) gene in the development of anxiety disorders

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Saami and Berbers--an unexpected mitochondrial DNA link

Study on GRIA2, GRIA3 and GRIA4 genes highlights a positive association between schizophrenia and GRIA3 in female patients

The 49a,f haplotype 11 is a new marker of the EU19 lineage that traces migrations from northern regions of the Black Sea

The GRM7 gene, early response to risperidone, and schizophrenia: a genome-wide association study and a confirmatory pharmacogenetic analysis

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

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations