When snakebites complicate: a paediatric case with shock and compartment syndrome

BMJ Case Reports

2021 | journal-article

Correction to: Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials) (Journal of Autism and Developmental Disorders, (2020), 10.1007/s10803-020-04709-8)

Journal of Autism and Developmental Disorders

2021 | journal-article

Social attention deficits in children with autism spectrum disorder: task dependence of objects versus faces observation bias

Frontiers in Psychiatry

2021 | journal-article

Language Predictors in Autism Spectrum Disorder: Insights from Neurodevelopmental Profile in a Longitudinal Perspective

Journal of Abnormal Child Psychology

2020 | journal-article

Virtual Reality Immersion Rescales Regulation of Interpersonal Distance in Controls but not in Autism Spectrum Disorder

Journal of Autism and Developmental Disorders

2020 | journal-article

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

Translational Psychiatry

2020 | journal-article

Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials)

Journal of Autism and Developmental Disorders

2020 | journal-article

Neurodevelopmental pediatrics in Portugal: Hospital patient volume, resources and needs – Changes after ten years,Pediatria do neurodesenvolvimento em Portugal: Movimento hospitalar assistencial, recursos e necessidades – Evolução em dez anos

Acta Medica Portuguesa

2020 | journal-article

The role of rare compound heterozygous events in autism spectrum disorder

Translational Psychiatry

2020 | journal-article

Perturbação do espectro do autismo

Pedipédia

2019 | magazine-article

Prevalence and determinants of motor stereotypies in autism spectrum disorder: A systematic review and meta-analysis

Autism

2019 | journal-article

Genomic imbalances defining novel intellectual disability associated loci

Orphanet Journal of Rare Diseases

2019 | journal-article

A role for gene-environment interactions in Autism Spectrum Disorder is suggested by variants in genes regulating exposure to environmental factors: Supplementary table 4

2019 | other

Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems.

Journal of autism and developmental disorders

2019 | journal-article

Impact of Prematurity Major Morbidities in the Neurodevelopment of Preterm Infants

Portuguese Journal of Pediatrics

2019 | journal-article

Uso de antipsicóticos em idade pediátrica – revisão

Revista portuguesa de pedopsiquiatria

2019 | journal-article

A Novel Biomarker of Compensatory Recruitment of Face Emotional Imagery Networks in Autism Spectrum Disorder.

Frontiers in neuroscience

2018 | journal-article

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

2018 | other

A Feasibility Clinical Trial to Improve Social Attention in Autistic Spectrum Disorder (ASD) Using a Brain Computer Interface

Frontiers in Neuroscience

2018 | journal-article

Analysis of shared heritability in common disorders of the brain.

Science (New York, N.Y.)

2018 | journal-article

Stimulus dependent neural oscillatory patterns show reliable statistical identification of autism spectrum disorder in a face perceptual decision task

Clinical Neurophysiology

2018 | journal-article

Accelerated subcutaneous immunotherapy in pediatric population – Systematic review

Revista Portuguesa de Pneumologia (English Edition)

2018 | journal-article

Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels

Journal of Autism and Developmental Disorders

2018 | journal-article

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

Psychiatric Genetics

2017 | journal-article

A pediatria na Medicina e Educação Médica

Ecos do Minho

2017 | journal-article

Abordagem Terapêutica na Perturbação de Hiperatividade com Défice da Atenção Hiperatividade com défice da atenção em idade pediátrica

Revista Portuguesa de Pedopsiquiatria

2017 | journal-article

Copy number variations in chromosome 16p13.11-the neurodevelopmental clinical spectrum

Current Pediatric Research

2017 | journal-article

História Clínica

Lições de Pediatria

2017 | book-chapter

Lições de Pediatria Vol. I e II

2017 | book

MLPA analysis in a cohort of patients with autism

Molecular Cytogenetics

2017 | journal-article

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Molecular Autism

2017 | journal-article

Neonatal morbidity and gestational diabetes: Coincidence or consequence of the 2011 protocol,Morbilidade neonatal na diabetes gestacional: Coincidência ou consequência do consenso de 2011

Acta Medica Portuguesa

2017 | journal-article

Neurodesenvolvimento e Comportamento

Lições de Pediatria

2017 | book-chapter

Perturbação Depressiva na Criança e no Adolescente – Conceitos-chave e Intervenção

Revista Portuguesa de Pedopsiquiatria

2017 | journal-article

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Nature Genetics

2017 | journal-article

Prescrição de Psicofármacos em Crianças e Adolescentes – Como é que os Pedopsiquiatras Portugueses percecionam a sua prática?

Revista Portuguesa de Pedopsiquiatria

2017 | journal-article

[Neurodevelopmental Outcomes of Very Preterm or Very Low Birth Weigth Infants: Comparison of Monochorionic and Dichorionic Twins with Singletons].

2016 | journal-article

A Vitamina D no Século XXI – Novas perspetivas

Saúde Infantil

2016 | journal-article

Autism and early neurodevelopmental milestones,Autismo e marcadores precoces do neurodesenvolvimento

Acta Medica Portuguesa

2016 | journal-article

Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders

Journal of Autism and Developmental Disorders

2016 | journal-article

Multidimensional strategy regarding the reduction of central-line associated infection in pediatric intensive care,Estratégia multidimensional na redução de infeção associada a cateter venoso central em pediatria

Acta Medica Portuguesa

2016 | journal-article

Neurodevelopmental outcomes of very preterm or very low birth weigth infants: Comparison of monochorionic and dichorionic twins with singletons,Neurodesenvolvimento de grandes prematuros ou recém-nascidos com muito baixo peso: Comparação de gémeos monocoriónicos e bicoriónicos com recém-nascidos de gestação unifetal

Acta Medica Portuguesa

2016 | journal-article

Preserved face inversion effects in adults with autism spectrum disorder: An event-related potential study

NeuroReport

2016 | journal-article

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

Autism

2016 | journal-article

Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing.

2015 | journal-article

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.

2015 | journal-article

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.

2015 | journal-article

Adaptive Profiles in Autism and Other Neurodevelopmental Disorders

Journal of Autism and Developmental Disorders

2015 | journal-article

Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology

Journal of Autism and Developmental Disorders

2015 | journal-article

Prevenção da gravidez indesejada nas jovens com défice cognitivo e / ou autismo – perspetiva transdisciplinar

Saúde Infantil

2015 | journal-article

Redes de Interação Proteica revelam fatores de risco associados à perturbação do espetro do autismo

Boletim Epidemiológico Observações N12 abril-junho 2015

2015 | journal-article

Sépsis Neonatal em Recém-Nascidos de Muito Baixo Peso e/ou Idade Gestacional Inferior a 32 Semanas e Neurodesenvolvimento aos 24 Meses

Acta Pediátrica Portuguesa

2015 | journal-article

Síndrome de Asperger e Sobredotação Intelectual: Análise Diferencial

Sobredotação

2015 | journal-article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

2014 | journal-article

Neurohab: A Platform for Virtual Training of Daily Living Skills in Autism Spectrum Disorder

Procedia Technology

2014 | journal-article

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

2014 | journal-article

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

2014 | journal-article

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

2014 | journal-article

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

2014 | journal-article

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

2013 | journal-article

Effectiveness of cochlear implants in children: Long term results

2013 | journal-article

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

2013 | journal-article

Health care associated multidrug-resistant bacteria in a pediatric hospital: Five year experience,Bactérias multirresistentes associadas aos cuidados de saúde num hospital pediátrico: Experiência de cinco anos

Acta Medica Portuguesa

2013 | journal-article

Health care associated multidrug-resistant bacteria in a pediatric hospital: five year experience

Acta Médica Portuguesa

2013 | journal-article

A direct comparison of local-global integration in autism and other developmental disorders: Implications for the central coherence hypothesis

2012 | journal-article

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

2012 | journal-article

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

2012 | journal-article

Cerebral creatine deficiency syndromes,Síndromes de deficiência cerebral de creatina

Acta Medica Portuguesa

2012 | journal-article

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

2012 | journal-article

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

Human Molecular Genetics

2012 | journal-article

Pediatria do Neurodesenvolvimento. Levantamento nacional de recursos e Necessidades

Acta Pediátrica Portuguesa

2012 | journal-article

Síndromes de Deficiência Cerebral de Creatina

Acta Médica Portuguesa

2012 | journal-article

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.

2011 | journal-article

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

Journal of Neurodevelopmental Disorders

2011 | journal-article

A Pediatria do Neurodesenvolvimento, o que é?

Acta Pediátrica Portuguesa

2011 | journal-article

Extended-spectrum ß-lactamase producing bacilli in a paediatric hospital

Acta Médica Portuguesa

2011 | journal-article

Post-traumatic meningitis in children: Eleven years' analysis,Meningite bacteriana pós-traumática em idade pediátrica: Análise de onze anos

Acta Medica Portuguesa

2011 | journal-article

Post-traumatic meningitis in children: eleven years' analysis

Acta médica Portuguesa

2011 | journal-article

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

2011 | journal-article

[Extended-spectrum β-lactamase producing bacilli in a paediatric hospital]. | Bacilos gram negativos produtores de β-lactamases de espectro expandido num hospital pediátrico.

2011 | journal-article

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

2010 | journal-article

Défice Cognitivo por Defeito da Síntese de Creatina

Acta Pediátrica Portuguesa

2010 | journal-article

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

2010 | journal-article

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

2010 | journal-article

Os efeitos da risperidona nos níveis de prolactina numa amostra de crianças e adolescentes com autismo

Acta Pediátrica Portuguesa

2010 | journal-article

Patologia do neurodesenvolvimento por anomalia cromossómica da região crítica do cromossoma 15 (q11-q13) - relação genótipo-fenótipo

Acta Pediátrica Portuguesa

2010 | journal-article

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

2010 | journal-article

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

Pharmacogenomics Journal

2010 | journal-article

Regressão do neurodesenvolvimento e síndrome de Rett - uma variante

Acta Pediátrica Portuguesa

2010 | journal-article

A genome-wide linkage and association scan reveals novel loci for autism

2009 | journal-article

Association of the α4 integrin subunit gene (ITGA4) with autism

2009 | journal-article

Autismo. Cuidados Primários de Saúde

Revista Portuguesa Clínica Geral

2009 | journal-article

Autismo: diagnóstico e orientação. Parte I - Vigilância, rastreio e orientação nos cuidados primários de saúde

Acta Pediátrica Portuguesa

2009 | journal-article

Investigação em Pediatria Quo Vadis

Acta Pediátrica Portuguesa

2009 | journal-article

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy

2009 | journal-article

Mutations in the MECP2 gene are not a major cause of rett syndrome-like or related neurodevelopmental phenotype in male patients

2009 | journal-article

Médico de família – Peça fundamental no Desenvolvimento da criança

Revista Portuguesa Clínica Geral

2009 | journal-article

Genome-wide linkage analyses of quantitative and categorical autism subphenotypes.

2008 | journal-article

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

2008 | journal-article

Analysis of Highly Conserved Regions of the 3’UTR ofMECP2Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

Disease Markers

2008 | journal-article

Atypical stereotypies and vocal ties in rett syndrome: An illustrative case

2008 | journal-article

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

2008 | journal-article

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

2007 | journal-article

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

2007 | journal-article

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

2007 | journal-article

Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations

2007 | journal-article

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

2006 | journal-article

Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients [1]

2005 | journal-article

Mitochondrial dysfunction in autism spectrum disorders: A population-based study

2005 | journal-article

Autoantibody repertoires to brain tissue in autism nuclear families

2004 | journal-article

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

2004 | journal-article

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

2003 | journal-article