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List of works by Astrid M. Vicente

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

scientific article published on 9 January 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

scientific article published on 14 October 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.

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

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

scientific article

Association between the BDNF gene and schizophrenia

scientific article published in February 2003

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

scientific article published on 30 March 2010

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

scientific article published in December 2009

Attitudes of the autism community to early autism research.

scientific article

Autoantibody repertoires to brain tissue in autism nuclear families

scientific article

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

scientific article published in November 2006

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

scientific article (publication date: November 2012)

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

scientific article published in June 2009

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

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

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

scientific article published on 7 November 2016

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

scientific article published on 16 April 2013

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

scientific article published in October 2007

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

scientific article published in May 2008

Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus

scientific article

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

scientific article published on 3 January 2007

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

scientific article published on 10 January 2012

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

scientific article published on 15 July 2010

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

scientific article

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

scientific article

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

scientific article published on 5 October 2012

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

scientific article published on 01 January 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

scientific article published on 18 February 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

scientific article published on 28 January 2020

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

scientific article

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

scientific article published on 19 August 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.

scientific article published on 28 January 2010

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

scientific article published on June 1, 2009

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

scientific article

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

scientific article

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

scientific article published in June 2007

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

scientific article published in March 2005

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

scientific article

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

scientific article published on 18 March 2010

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

scientific article published on April 2003

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

scientific article published on 10 March 2015

Pharmacogenetics of risperidone response and induced side effects

scientific article published on 01 August 2007

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

scientific article published on 8 December 2009

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

scientific article

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

scientific article

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.

scientific article

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

scientific article

The role of rare compound heterozygous events in autism spectrum disorder

scientific article published on 22 June 2020

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

scientific article published on 27 April 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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