Lista de obras - Astrid M. Vicente - Dominio Público Uruguay

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

artículo científico publicado en 2008

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

A remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domain.

artículo científico publicado en 2008

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

artículo científico publicado en 2014

Association between the BDNF gene and schizophrenia

artículo científico publicado en 2003

Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study

artículo científico publicado en 2010

Association of the alpha4 integrin subunit gene (ITGA4) with autism

artículo científico publicado en 2009

Attitudes of the autism community to early autism research.

artículo científico publicado en 2016

Autoantibody repertoires to brain tissue in autism nuclear families

artículo científico publicado en 2004

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

artículo científico publicado en 2006

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

artículo científico publicado en 2012

Characterization of pharmacogenetically relevant CYP2D6 and ABCB1 gene polymorphisms in a Portuguese population sample

artículo científico publicado en 2009

Compensatory T-cell regulation in unaffected relatives of SLE patients, and opposite IL-2/CD25-mediated effects suggested by coreferentiality modeling

artículo científico publicado en 2012

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure

artículo científico publicado en 2016

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

artículo científico publicado en 2013

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.

artículo científico publicado en 2007

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal

artículo científico publicado en 2008

Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus

artículo científico publicado en 2004

Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels.

artículo científico publicado en 2007

Evidence for epistatic gene interactions between growth factor genes in stroke outcome

artículo científico publicado en 2012

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

artículo científico publicado en 2012

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

artículo científico publicado en 2012

Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

artículo científico publicado en 2008

Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

artículo científico publicado en 2014

Heritable factors shape natural human IgM reactivity to Ro60/SS-A and may predispose for SLE-associated IgG anti-Ro and anti-La autoantibody production

article

Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning

artículo científico publicado en 2020

Identification of candidate genes for psychosis in rat models, and possible association between schizophrenia and the 14-3-3eta gene

artículo científico publicado en 2003

Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.

artículo científico publicado en 2010

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Kalirin: a novel genetic risk factor for ischemic stroke.

artículo científico publicado en 2010

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese ⬇️

artículo científico publicado el 1 de junio de 2009

Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants

artículo científico publicado en 2009

Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration.

artículo científico publicado en 2016

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

artículo científico publicado en 2007

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

artículo científico publicado en 2005

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

artículo científico publicado en 2008

Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies

artículo científico publicado en 2010

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

artículo científico

Pharmacogenetic profile of a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

artículo científico publicado en 2015

Pharmacogenetics of risperidone response and induced side effects

artículo científico publicado en 2007

Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactions.

artículo científico publicado en 2009

Protein interaction networks reveal novel autism risk genes within GWAS statistical noise

artículo científico publicado en 2014

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

artículo científico publicado en 2014

Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort

article

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

artículo científico publicado en 2012

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

artículo científico publicado en 2014

The role of rare compound heterozygous events in autism spectrum disorder

artículo científico publicado en 2020

Use of early intervention for young children with autism spectrum disorder across Europe

artículo científico publicado en 2015

Variants in the inflammatory IL6 and MPO genes modulate stroke susceptibility through main effects and gene-gene interactions

artículo científico publicado en 2011

Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke

artículo científico publicado en 2010

Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism

artículo científico publicado en 2004

Variants within the nitric oxide synthase 1 gene are associated with stroke susceptibility

artículo científico publicado en 2011

Lista de obras de Astrid M. Vicente

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

A genome-wide scan for common alleles affecting risk for autism

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

A remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domain.

Analysis of shared heritability in common disorders of the brain

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

Association between the BDNF gene and schizophrenia

Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study

Association of the alpha4 integrin subunit gene (ITGA4) with autism

Attitudes of the autism community to early autism research.

Autoantibody repertoires to brain tissue in autism nuclear families

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

Characterization of pharmacogenetically relevant CYP2D6 and ABCB1 gene polymorphisms in a Portuguese population sample

Compensatory T-cell regulation in unaffected relatives of SLE patients, and opposite IL-2/CD25-mediated effects suggested by coreferentiality modeling

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal

Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus

Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels.

Evidence for epistatic gene interactions between growth factor genes in stroke outcome

Functional impact of global rare copy number variation in autism spectrum disorders

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci

Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

Heritable factors shape natural human IgM reactivity to Ro60/SS-A and may predispose for SLE-associated IgG anti-Ro and anti-La autoantibody production

Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning

Identification of candidate genes for psychosis in rat models, and possible association between schizophrenia and the 14-3-3eta gene

Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.

Individual common variants exert weak effects on the risk for autism spectrum disorders

Kalirin: a novel genetic risk factor for ischemic stroke.

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese ⬇️

Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants

Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration.

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

Pharmacogenetic profile of a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

Pharmacogenetics of risperidone response and induced side effects

Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactions.

Protein interaction networks reveal novel autism risk genes within GWAS statistical noise

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

The role of rare compound heterozygous events in autism spectrum disorder

Use of early intervention for young children with autism spectrum disorder across Europe

Variants in the inflammatory IL6 and MPO genes modulate stroke susceptibility through main effects and gene-gene interactions

Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke

Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism

Variants within the nitric oxide synthase 1 gene are associated with stroke susceptibility