European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

BMJ Open

2024 | journal-article

Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder—A Systematic Review

International Journal of Molecular Sciences

2024 | journal-article

Neurochemical differences in core regions of the autistic brain: a multivoxel 1H-MRS study in children

Scientific Reports

2024 | journal-article

Positive impact on childrenÓ?s quality of life under non-invasive home mechanical ventilation - PedsQL application in a monocentric cohort

Portuguese Journal of Pediatrics

2023 | journal-article

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis

Biomedicines

2023 | journal-article

Bumetanide oral solution for the treatment of children and adolescents with autism spectrum disorder: Results from two randomized phase III studies

Autism Research

2023 | journal-article

Functional neuroimaging of responses to multiple sensory stimulations in newborns with perinatal asphyxia

Translational Pediatrics

2023 | journal-article

Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project

Frontiers in Psychiatry

2023 | journal-article

A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia

International Journal of Molecular Sciences

2023 | journal-article

Evidence for an association of prenatal exposure to particulate matter with clinical severity of Autism Spectrum Disorder

Environmental Research

2023 | journal-article

Design and Implementation of a Collaborative Clinical Practice and Research Documentation System Using SNOMED-CT and HL7-CDA in the Context of a Pediatric Neurodevelopmental Unit

Healthcare

2023 | journal-article

The role of early functional neuroimaging in predicting neurodevelopmental outcomes in neonatal encephalopathy

European Journal of Pediatrics

2023 | journal-article

Brain connectivity dynamics underlying tDCs in ADHD: a preliminary study

Brain Stimulation

2023 | journal-article

The prognostic value of delta-lactate in critically ill children

Journal of Paediatrics and Child Health

2022 | journal-article

Metabolically healthy obesity in a paediatric obesity clinic

Journal of Pediatric Endocrinology and Metabolism

2022 | journal-article

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders

Frontiers in Molecular Neuroscience

2022 | journal-article

Motor stereotypies in autism spectrum disorder: Clinical randomized study and classification proposal

Autism

2022 | journal-article

Faecal calprotectin and rectal histological inflammatory markers in cystic fibrosis: a single-centre study

BMJ Paediatrics Open

2022 | journal-article

A Phase III Study of Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents Aged Between 7 and 17 Years with Autism Spectrum Disorder (SIGN 1 Trial): Participant Baseline Characteristics

Child Psychiatry & Human Development

2022 | journal-article

Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies

Jornal de Pediatria

2022 | journal-article

Parahippocampal deactivation and hyperactivation of central executive, saliency and social cognition networks in autism spectrum disorder

Journal of Neurodevelopmental Disorders

2022 | journal-article

New drugs in cystic fibrosis: what has changed in the last decade?

Therapeutic Advances in Chronic Disease

2022 | journal-article

Attentional Cueing and Executive Deficits Revealed by a Virtual Supermarket Task Coupled With Eye-Tracking in Autism Spectrum Disorder

Frontiers in Psychology

2021 | journal-article

Secondary Hepatic Injury in Pediatric Intensive Care: Risk Factors and Prognostic Impact

Journal of Pediatric Gastroenterology & Nutrition

2021 | journal-article

Training the social brain: Clinical and neural effects of an 8-week real-time functional magnetic resonance imaging neurofeedback Phase IIa Clinical Trial in Autism

Autism

2021 | journal-article

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

BMJ Case Reports

2021 | journal-article

Criação da subespecialidade de pediatria do neurodesenvolvimento

Revista Ordem Médicos

2021 | magazine-article

Caregiver Burden: Impact of Pediatric Complex Chronic Conditions and the Role of Family Functionality

17th World Congress of the European Association For Palliative Care

2021 | conference-poster

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

Integration of point mutation and protein-protein interaction network analyses in Autism Spectrum Disorder. Genomics of Brain Disorders

Advanced Courses+Scientific Conferences.Virtual conference agenda

2021 | conference-poster

O Hospital Pediátrico na resposta à Pandemia COVID-19

CHUC e a pandemia de COVID-19

2021 | book-chapter

Protein-protein interaction network and biological community detection in Autism Spectrum Disorder

The GenomePT Consortium

2021 | conference-poster

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

Frontiers in Psychiatry

2021 | journal-article

The SIGN Trials: A Phase III Study of Bumetanide 0.5 mg Oral Liquid Formulation for Treatment of Children and Adolescents with Autism Spectrum Disorder - Study Design and Patient Baseline Characteristics

Annual Meeting of the International Society for Autism Research

2021 | conference-poster

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

Systems Biology approach for the identification of neurotransmission and synaptic risk genes and disrupted biological processes in Autism Spectrum Disorder

European Human Genetics Virtual Conference

2020 | conference-poster

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

Autism Spectrum Disorder: gene variants involved in the nonsense-mediated mRNA decay pathway

52nd European Society of Human Genetics Conference

2019 | conference-poster

Do transplante hepático á idade adulta: viver com o transplante hepático

Congresso Português de Hepatologia

2019 | conference-poster

ESTRATÉGIAS DE ENFRENTAMENTO (COPING) DE CRIANÇAS COM DOENÇA CRÔNICA NO CONTEXTO DA HOSPITALIZAÇÃO

Congresso Português de Hepatologia

2019 | conference-poster

Identification of disease risk variants in neurotransmission and synaptic genes in Autism Spectrum Disorder

XVI sociedade Portuguesa Neurociências

2019 | conference-poster

Impact of Prematurity Major Morbidities in the Neurodevelopment of Preterm Infants

Portuguese Journal of Pediatrics

2019 | journal-article

Os efeitos de um tratamento não farmacológico na perturbação do défice de hiperatividade/ défice de atenção em população pediátrica. Um ensaio clinico europeu com Transmissão Intracranena de Corrente Contínua

2º Congresso Nacional de PHDA

2019 | conference-poster

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

Monogenic disorders associated with ASD in a large Portuguese sample

International Society for Autism Research (INSAR)

2018 | conference-poster

Regulatory RNAs in Autism Spectrum Disorder

Encontro Ciência 2018

2018 | conference-poster

miRNA and lncRNA gene variants in Autism Spectrum Disorder

European Society Human Genetics conference

2018 | conference-poster

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

Abnormal neuronal oscillations in ASD are specific to stimuli requiring holistic processing

International Meeting For Autism Research

2017 | conference-poster

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

Alterações cintigráficas após primeiro episódio de pielonefrite aguda

18º Congresso Nacional de Pediatria. Sociedade Portuguesa de Pediatria

2017 | conference-poster

Autism Risk associated with Parents´age and Educational Status?

International Meeting For Autism Research

2017 | conference-poster

Biobanco Hospital Pediátrico

2017 | other

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

Current Pediatric Research

2017 | journal-article

Development and validation of a virtual reality intervention for outdoor adaptative activities in autism spectrum disorder

International Meeting For Autism Research

2017 | conference-poster

História Clínica

Lições de Pediatria

2017 | book-chapter

Lições de Pediatria

Imprensa da Universidade de Coimbra

2017 | edited-book

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 do prematuro de extremo baixo peso - experiencia da consulta de risco biológico

IX Seminário Pediatria Neurodesenvolvimento da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2017 | conference-poster

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

Processing Facial expressions’ and their mental imagery on ASD: an electroencephalographic study with a feasibility analysis for a neurofeedback approach

International Meeting For Autism Research

2017 | conference-poster

Tumores do SNC e o neurodesenvolvimento

2017 | other

[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

Consulta de Risco Biológico e Doença Oncológica na Criança e Adolescente

2016 | other

Doença de Kawasaki: Avaliação mais de 10 anos após o diagnóstico

17º Congresso Nacional Pediatria

2016 | conference-poster

Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD)

European Society of Human Genetics

2016 | conference-poster

Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders

Journal of Autism and Developmental Disorders

2016 | journal-article

Intoxicações por paracetamol em idade pediátrica – experiência de 10 anos de um Serviço urgência polivalente

17º Congresso Nacional Pediatria

2016 | conference-poster

Maternal CNV transmission to sons with autism correlates with phenotypic traits in the Broad Autism Phenotype

European Society of Human Genetics

2016 | conference-poster

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

Perturbação do espetro do autismo, contributos para a caracterização da comunicação e linguagem

Encontro para a Ciência e tecnologia em Portugal

2016 | conference-poster

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

NeuroReport

2016 | journal-article

Processing of Facial Expressions and their Mental Imagery in ASD: an EEG study with feasibility analysis for a neurofeedback approach

International Meeting for Autism Research (IMFAR)

2016 | conference-poster

Registo eletrónico de dados – perspetiva clínica e de investigação – implementação no Hospital Pediátrico

2016 | other

Responsável delegação da visita idoneidade formativa – Colégio de Pediatria da Ordem dos médicos. Hospital Figueira da Foz

2016 | other

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

Novel Autism Spectrum Disorder (ASD) Risk Genes identified in Genome-Wide Association Studies (GWAS) through Protein Interaction Network analysis

International Meeting for Autism Research

2015 | conference-poster

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

2º Curso de Formação para Internos 2013-2014 do Hospital Pediátrico – Centro Hospitalar e Universitário de Coimbra

Centro de Investigação e Formação Clínica-CIFC

2014 | edited-book

A avaliação intelectual nas patologias do neurodesenvolvimento: comparação entre dois instrumentos

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

Autism Diagnostic Observation Schedule - Material from the ADOS

2014 | translation

Autismo e Mutação em Cholinergic Receptor, Nicotinic, Alpha 7 – CHRNA7

2014 | other

Avanços em pediatria do neurodesenvolvimento uma abordagem transdisciplinar : livro de resumos e programa científico / VIII Seminário Pediatria do Neurodesenvolvimento

Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | edited-book

Bases moleculares do autismo: Clinica e Terapêutica

2014 | other

Childhood predictors of adult mental disorders: implications for prevention

2014 | other

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

2014 | journal-article

Desenho e implementação de um laboratório de realidade virtual para estudo neuro-comportamental no autismo

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

Differential diagnosis of Autism Spectrum Disorder (ASD) by CNV detection – can early diagnosis be improved?

18ª Reunião Anual da Sociedade Portuguesa de Genética Humana

2014 | conference-poster

Functional Neuroamaging In Newborns With Prenatal Asphyxia Predicting Neurodevelopment Outcome

2014 | other

Genética e Autismo

XXV Encontro Nacional de Psiquiatria da Infância e Adolescência

2014 | conference-poster

Investigating the excitation/inhibition ratio in the pre-frontal cortex of subjects diagnosed with Autism Spectrum Disorder

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

Investigação em Neurodesenvolvimento. Curso Metodologias e Técnicas de Investigação

2014 | other

Membro do júri Equiparação ao Ciclo de Estudos Especiais de Pediatria

2014 | other

Módulo 2 - 2º Curso de Formação para Internos 2013 2014:Pediatria Ambulatória

Centro de Investigação e Formação Clínica

2014 | book

Módulo 3 - 2º Curso de Formação para Internos 2013 - 2014: Neonatologia e Cuidados Intensivos Pediátricos

Centro de Investigação e Formação Clínica

2014 | book

Módulo4 - 2º Curso de Formação para Internos 2013 - 2014: Cirurgia, Anestesiologia, Ortopedia, Neurocirurgia, Oftalmologia e ORL

Centro de Investigação e Formação Clínica

2014 | book

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

Procedia Technology

2014 | journal-article

Patologia psiquiátrica familiar e autismo: que relações?

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

Prefácio

2014 | other

Problemas do recém nascido após alta da maternidade

2014 | other

Programa de Reabilitação Neuropsicológica em crianças com Tumores do Sistema Nervoso Central sujeitas a Radioterapia

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

Projecto HomeTech: a tecnologia no desenvolvimento da autonomia pessoal e social

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

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

2014 | journal-article

Qualidade Vida em Crianças com Tumores do Sistema Nervoso Central International

Conference of Psycho-Oncology

2014 | conference-poster

Quantitative approach of the application of Autism Diagnostic Observation Schedule (ADOS): a preliminary eye-tracking validation study

Translational Research in Neuroscience and Chronic Diseases do Meeting do IBILI

2014 | conference-poster

Questões neuroéticas na aplicação de Ressonância Magnética funcional em idade pediátrica

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

Reabilitação cognitiva neuro-oncologia

2014 | other

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

2014 | journal-article

Reunião governação clinica

2014 | other

Sindrome de Usher - surdez e cegueira: apresentação de quatro casos

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

Testing for Fragile X syndrome in patients with neurodevelopmental disorders

VIII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2014 | conference-poster

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

Adaptive Functioning of Children with Autism Spectrum Disorders (ASD): a Study with the Vineland Adaptive Behavior Scale (VABS) at Different Intellectual Levels versus Non Autism Population

International Neuropsychological Society mid-year meeting

2013 | conference-poster

Autism Spectrum Disorders: clinical features in a large Portuguese population sample

International Meeting for Autism Research

2013 | conference-poster

Autism: a complex multigenic brain disorder

2013 | other

Casos clínicos da Unidade de Neurodesenvolvimento e Autismo (UNDA) experiência em psicofarmacologia

2013 | other

Desenvolvimento e Comportamento infantil

2013 | other

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

From neural development to cognition: unexpected Roles for chromatin

2013 | other

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

Hipoglicemia na criança com diabetes mellitus tipo 1:Que sequelas de neurodesenvolvimento?

2013 | other

Investigação em Neurodesenvolvimento

2013 | other

Maternal sensitivity and oxytocin profile among children with autism

International Attachment Conference

2013 | conference-poster

Medications for adolescents and young adults with autism spectrum disorders: a systematic review

2013 | other

Perfil neurocognitivo da criança com Hipoglicémia recorrente e diabetes mellitus tipo 1: caso clinico

2013 | other

Pharmacoterapy in autism: a prospective one-year study with risperidone

International Meeting for Autism Research

2013 | conference-poster

Preserved first-order configural and holistic face processing in high-functioning adults with autism: an EEG/ERP study

36Th European Conference on visual perception

2013 | conference-poster

Relevance of common and rare cnvs for autism etiology

International Meeting for Autism Research

2013 | conference-poster

Targeted therapies no neurodesenvolvimento O futuro está à porta…

2013 | other

The Functional Profile of Children with Autism Spectrum Disorders: A Study with the Vineland Adaptive Behavior Scale (VABS) At Different Intellectual Levels Versus Non Autism Population

International Meeting for Autism Research

2013 | conference-poster

Autismo. Doenças Raras de A a Z

Raríssimas-Fedra

2012 | magazine-article

1º Curso de Formação para Internos 2011-2012 do Hospital Pediátrico – Centro Hospitalar e Universitário de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

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

Annexins: a putative role in the etiology of ASD

International Meeting for Autism Research

2012 | conference-poster

Autism: a complex multigenic brain disorder

2012 | other

Autismo: Tratamento com Risperidona – análise prospectiva de um ano

XVI Seminário do Centro de Desenvolvimento luís Borges. Novos desafios em diagnóstico e terapêutica

2012 | conference-poster

Brain structure and neurochemistry in Autism Spectrum Disorders

29ª reunião anual da European Society for Magnetic Ressonance in Medicine and Biology

2012 | conference-poster

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

Comunicação e linguagem na Perturbação do Espectro do Autismo em comparação com população normal

13º Congresso Nacional Pediatria

2012 | conference-poster

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

2012 | journal-article

Hipotiroidismo Congénito e Neurodesenvolvimento

XVI seminário do Centro de desenvolvimento luís Borges. Novos desafios em diagnóstico e terapêutica

2012 | conference-poster

Identification of microduplications of the ATRX gene in Autism Spectrum Disorders

Annual Meeting of American Society Human Genetic

2012 | conference-poster

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

Human Molecular Genetics

2012 | journal-article

Módulo 2 - Pediatria do Ambulatorio I. 1º curso de formação para internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Módulo 3 - Neonatologia e cuidados intensivos. 1º Curso de formação para internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Módulo 4 - Cirurgia, Anestesiologia, Ortopedia, Neurocirurgia, Oftalmologia e ORL. 1º Curso de formação para Internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Módulo 5 - Desenvolvimento e Neurologia. 1º Curso de formação para internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Módulo 6 - Genética, Metabólicas, Neuroimagem/EEG e Pedopsiquiatria. 1º Curso de formação para internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Módulo 7-Pediatria do Ambulatorio II.1º Curso de formação para internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Módulo 8 -. Pediatria do Internamento de Medicina e Subespecialidades .1º Curso de formação para internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Módulo 9 -. Hematologia e Oncologia.1º curso de formação para internos 2011-2012 do Hospital Pediatrico de Coimbra

Centro de Investigação e Formação Clínica

2012 | book

Pediatria do Neurodesenvolvimento. Levantamento nacional de recursos e Necessidades

Acta Pediátrica Portuguesa

2012 | journal-article

Perturbação de Défice de Atenção e Hiperatividade Diagnóstico e avaliação das dificuldades escolares

2012 | other

Protein Interaction Networks Reveal Novel Autism Risk Genes within GWAS Statistical Noise

Annual Meeting of American Society Human Genetic

2012 | conference-poster

Síndromes de Deficiência Cerebral de Creatina

Acta Médica Portuguesa

2012 | journal-article

Tertúlia – O autismo

2012 | other

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

Autism Spectrum Disorders – A Brain Morphometric and Neurochemical Study

III annual IBILI Meeting

2011 | conference-poster

Bactérias multi-resistentes num hospital Pediátrico: Experiência de 5 anos

12º Congresso Nacional de Pediatria da Sociedade Portuguesa de Pediatria

2011 | conference-poster

Broad Autism Phenotype (BAP) Personality Styles and Preferences in a sample of Portuguese families with autism spectrum disorders

VII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2011 | conference-poster

Children with neurosensorial deafness candidates or submitted to cochlear implant. Global neurodevelopment evaluation: Longitudinal study

48th Inner Ear Biology Workshop

2011 | conference-poster

Crianças com Risco Biológico Para Problemas de Neurodesenvolvimento: Estudo longitudinal

II Encontro de Neurodesenvolvimento do Centro Hospitalar da Cova Beira

2011 | conference-poster

Défice do Transportador de creatina cerebral - um diagnóstico de importância crescente em neurodesenvolvimento

VII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2011 | conference-poster

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

Acta Médica Portuguesa

2011 | journal-article

Perturbações do neurodesenvolvimento: o estado da arte na etiologia e intervenção: livro de resumos e programa científico / VII Seminário Pediatria do Neurodesenvolvimento

Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2011 | edited-book

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

Prevenção da Gravidez indesejada em jovens com défice cognitivo /ou autismo - Perspectiva transdisciplinar

VII Seminário da Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria

2011 | conference-poster

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

2011 | journal-article

The Autism Genome Project. Identification of protein sub-networks implicated in Autism Spectrum Disorders

American Society Human Genetic annual meeting

2011 | conference-poster

[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

Autismo etiologia, Sessões clínicas

2010 | other

Cognitive Profiles, Phenotypic Heterogeneity and the Severity of Symptoms in Autism Spectrum Disorder

International Meeting for Autism Research (IMFAR)

2010 | conference-poster

Creatine Transporter Deficiency caused by a de novo mutation. Case Report

VII Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas

2010 | conference-poster

Differential pattern of local-global visual integration in Williams Syndrome and Autism Spectrum Disorders

18th Biennial Meeting of the International Society for Developmental Neuroscience

2010 | conference-poster

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

Genética Autismo

2010 | other

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

2010 | journal-article

Is there any early developmental factor that verbal acquisition will appear in children with Autism?

18th Biennial Meeting of the International Society for Developmental Neuroscience

2010 | conference-poster

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

Phenotipic variability in cerebral creatine transporter

VII Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas

2010 | conference-poster

Regressão do neurodesenvolvimento e síndrome de Rett - uma variante

Acta Pediátrica Portuguesa

2010 | journal-article

The Autism Genome Project Consortium. Recurrent rearrangements of 16p13.11: further evidence for a pathogenic role of deletions in Autism Spectrum Disorders (ASD)

The American Society of Human Genetics

2010 | conference-poster

The visual cognitive style versus deficit debate in ASD: a comparative approach with other neurodevelopmental models

40th Annual Meeting Neuroscience Society for Neurosciences

2010 | conference-poster

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

Chromosomal anomalies in a Portuguese “Idiopathic” autism sample

8th Annual International Meeting for Autism Research (IMFAR)

2009 | conference-poster

Investigação em Pediatria Quo Vadis

Acta Pediátrica Portuguesa

2009 | journal-article

Is there any early developmental factor that verbal acquisition will appear in children with autism?

8th Annual International Meeting for Autism Research (IMFAR)

2009 | conference-poster

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

Perturbações do neurodesenvolvimento na infância e adolescência

2009 | other

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

Esclerose tuberosa, caso clínico e revisão teórica

2008 | other

Etiologic investigation of 654 patients with Autism Spectrum Disorder (ASD): the experience at Hospital Pediátrico de Coimbra in Portugal

7th International Meeting for autism research

2008 | conference-poster

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

2008 | journal-article

Pharmacogenetics of risperidone therapy in autism

7th International Meeting for autism research

2008 | conference-poster

The BDNF receptor gene NTRK2 is a susceptibility gene for autism

European Society of human Genetics

2008 | conference-poster

Autismo: explicações neuropsicológicas, avaliação e perfil funcional

Revista Diversidades

2007 | magazine-article

Autismo Comorbilidade, diagnóstico diferencial, prognóstico e intervenção farmacológica

Revista Diversidades

2007 | magazine-article

Abordagem ao protocolo de investigação do ADPM (discussão conjunta CDC e Genética)

2007 | other

Casos clínicos e abordagem ao protocolo de investigação do ADPM (discussão conjunta CDC e Genética)

2007 | other

Deleção9 (p24>pter) como causa de défice cognitivo e autismo

8º Congresso Nacional Pediatria da Sociedade Portuguesa de Pediatria

2007 | conference-poster

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

Interaction between the GAD1 gene and specific serotonergic genes contributes to autism etiology and platelet serotonin distributionm

6th International Meeting for autism research

2007 | conference-poster

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

Autismo: História, clínica e diagnóstico

Revista Diversidades

2006 | magazine-article

Autismo/S Asperger. Experiência da Consulta de autismo do Hospital pediátrico

2006 | other

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

Casos clínicos de autismo e de atraso de desenvolvimento psicomotor com diagnóstico etiológico

2006 | other

Um olhar FISH sobre o autismo

10ª Reunião Sociedade Portuguesa de Genética Humana

2006 | conference-poster

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

2005 | journal-article

Association studies of two candidate genes on the 2q31-33 region with autism: GAD1 and SLC25A12

First Cold Spring Harbor Laboratory /Wellcome Trust Conference on Functional Genomics of Mammalian Nervous Systems

2005 | conference-poster

CYP2D6 allele frequency in portuguese population

Annual Meeting of the American Society for Human Genetics

2005 | conference-poster

Casos clínicos. Não acredites em tudo o que te dizem…nem em tudo o que escrevem

2005 | other

Epidemiologia do autismo em Portugal. Um estudo de prevalência da perturbação do espectro do autismo e de caracterização de uma amostra populacional de idade escolar

2005 | other

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

2005 | journal-article

Association of the 5-HTR1A gene region with Autism Spectrum Disorders

Annual Meeting of the American Society for Human Genetics

2004 | conference-poster

Autoantibody repertoires to brain tissue in autism nuclear families

2004 | journal-article

Lack of association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism or with markers of mitochondrial dysfunction in autistic patients

Annual Meeting of the American Society for Human Genetics

2004 | conference-poster

MECP2 variation in a sample of Portuguese autistic patients

Annual Meeting of the American Society for Human Genetics

2004 | conference-poster

Orgânica da consulta de autismo. Trabalho epidemiológico

2004 | other

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

2004 | journal-article

Autoantibody repertoires to human brain tissue in autism spectrum disorders

The Social Brain

2003 | conference-poster

Epidemiology of Autism Spectrum Disorders (ASD) in Portugal

The Social Brain

2003 | conference-poster

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

2003 | journal-article

Autism and Mitochondrial Disorder

Inaugural World Autism Congress

2002 | conference-poster

Autoantibody repertoires against brain tissue in autism nuclear families

52nd Annual Meeting of the American Society of Human Genetics

2002 | conference-poster

Role of serotonin transporter variants in the determination of platelet serotonin levels in Autism Spectrum Disorders

52nd Annual Meeting of the American Society of Human Genetics

2002 | conference-poster

Autismo, casuística da consulta do CDC /HP

2001 | other

Casuística de la consulta de autismo del centro de desarrolho de la infancia

Revísta de Neurologia Clínica

2001 | journal-article

Rearranjo estrutural desequilibrado em mosaico e seu provável mecanismo de formação

Second Euroconference on Quantitative Molecular Cytogenetics

2001 | conference-poster

Sindroma Rett. Um caso Clinico com confirmação molecular

Acta Pediátrica Portuguesa

2001 | journal-article

Rearranjo estrutural desequilibrado em mosaico e seu provável mecanismo de formação

II Congresso de Investigação em Medicina

2000 | conference-poster

Rearranjos cromossómicos clarificados por citogenética molecular, apresentação de 3 casos

II Congresso de Investigação em Medicina

2000 | conference-poster

A criança que anda tarde. Preocupa?

Saúde Infantil

1999 | journal-article

1ª Consulta de desenvolvimento Casuística

Saúde Infantil

1998 | journal-article

Dificuldades de aprendizagem (LD) e hiperactividade ( ADHD): Estudo Comparativo

Psychologica

1998 | journal-article

Défices neuropsicológicos em crianças hiperactivas: Qual especificidade ?

Psychologica

1998 | journal-article

Hiperactividade na comunidade e hiperactividade em meio clinico: Semelhanças e diferenças

Psychologica

1998 | journal-article

Atraso de linguagem nos primeiros anos de vida como estão alguns anos depois?

Saúde Infantil

1997 | journal-article

Avaliação teórico-prática da visão na criança

1997 | other

A Menina que não sorri-caso clinico

Saúde Infantil

1996 | journal-article

Autismo Infantil-Casuistica

Revista Portuguesa de Pediatria

1994 | journal-article

Desenvolvimento

Lições de Pediatria

1994 | book-chapter

Défice Auditivo- Casuistica

Revista Portuguesa de Pediatria

1994 | journal-article

Sequelas de traumatismo crânio-encefálico nas crianças. Análise de 25 casos com internamento na UCI/HP e seguimento superior a um ano

1994 | other

Visão na criança - Normas Práticas de avaliação. Perspectiva pediátrica I parte

Saúde Infantil

1994 | journal-article

Défice auditivo -casuística do CDC/HP

1993 | other

Défice de atenção hiperactividade - casuística do CDC/HP

1993 | other

Nutrição na asfixia neonata

Revista Portuguesa de Pediatria

1993 | journal-article

Autismo - Casuística do CDC/HP e revisão teórica

1992 | other

Doença de Addison e adrenoleucodistrofia. Caso clínico

Revista Portuguesa de Pediatria

1992 | journal-article

Encefalopatia hipóxico-isquémica. Factores de prognóstico

Revista Portuguesa de Pediatria

1992 | journal-article

Miastenia Gravis na criança

Revista Portuguesa de Pediatria

1992 | journal-article

Paralisia facial periférica por hipertensão arterial. Casoclínico

Revista Portuguesa de Pediatria

1992 | journal-article

Asma, que asma?

Cadernos de Imunoalergologia Pediátrica

1991 | journal-article

Cutaneous osteomas and pseudihypoparathyroidism

Giornale Internazionale di Dermatologia Pediatrica

1991 | journal-article

Foreign bodies in the lower airways

Arquivos de Medicina

1991 | journal-article

Hipercalciúria na criança. Valores normais da relação cálcio/creatinina urinária

Revista Portuguesa de Pediatria

1991 | journal-article

Meningite tuberculosa. Experiência de10 anos no HP

Saúde infantil

1991 | journal-article

Suspensão da terapêutica anti-epiléptica

Saúde Infantil

1991 | journal-article

Um “pequeno” trauma parece explicar tudo

Saúde Infantil

1990 | journal-article

Sinusite aguda na criança

Saúde infantil

1989 | journal-article