Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Guiomar Oliveira"'
Autor:
Louise Gallagher, Michael Absoud, Miguel Castelo-Branco, Tony Charman, Maja Hempel, Richard Delorme, Guiomar Oliveira, Roberta Battini, Sven Bölte, Claire S Leblond, Thomas Bourgeron, Alexandra Lautarescu, Mercedes Serrano, Federico Vigevano, Christian P Schaaf, Bethany Oakley, Julian Tillmann, Pierre Violland, Declan G M Murphy, Sarah Douglas, Paolo Bonanni, Grainne McAlonan, Roberta Milone, Josefina Castro-Fornieles, Madeleine Bloomfield, Síofra Heraty, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Ana Blázquez Hinojosa, Nadia Bolshakova, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Pilar Caro, Freddy Cliquet, Alberto Danieli, Maurizio Elia, Nuno Madeira, Ciara J Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Kristiina Tammimies, Charlotte Tye, Beatrice Mazzone, Cara O’Neill, Julie Pender, Verena Romero, Christopher Chatham
Publikováno v:
BMJ Open, Vol 14, Iss 6 (2024)
Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed
Externí odkaz:
https://doaj.org/article/815fdc95324e48c4ab0f1f29dd80968c
Autor:
Ana Dionísio, Ana Espírito, Andreia C. Pereira, Susana Mouga, Otília C. d’Almeida, Guiomar Oliveira, Miguel Castelo-Branco
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental condition which compromises various cognitive and behavioural domains. The understanding of the pathophysiology and molecular neurobiology of ASD is still an open critical research quest
Externí odkaz:
https://doaj.org/article/c9c7e4a258a6437a9df2ba7d713bfa81
Autor:
Joana Vilela, Célia Rasga, João Xavier Santos, Hugo Martiniano, Ana Rita Marques, Guiomar Oliveira, Astrid Moura Vicente
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 4938 (2024)
Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes
Externí odkaz:
https://doaj.org/article/df972c02816842188c385df500cd258b
Autor:
Célia Rasga, João Xavier Santos, Cátia Café, Alexandra Oliveira, Frederico Duque, Manuel Posada, Ana Nunes, Guiomar Oliveira, Astrid Moura Vicente
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
IntroductionAccurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct
Externí odkaz:
https://doaj.org/article/adc00bdba20a4535b18d2d9d3ecaff36
Autor:
Ana Moura-Figueiredo, Joana Amaral, Guiomar Oliveira, Núria Madureira, Miguel Félix, Cândida Cancelinha
Publikováno v:
Portuguese Journal of Pediatrics, Vol 54, Iss 3 (2023)
Introduction: In home mechanical ventilated (HMV) children, treatment is not based on cure, but rather on preventing morbidity and mortality and promoting their well-being. This study aimed to evaluate the different dimensions of quality of life (QoL
Externí odkaz:
https://doaj.org/article/239735a3da864e849b6c2852210d7b0b
Autor:
Juliana Roda, Teresa Teixeira, Iris AI Silva, Teresa Reis Silva, Ricardo Ferreira, Margarida D. Amaral, Guiomar Oliveira
Publikováno v:
Jornal de Pediatria, Vol 98, Iss 2, Pp 212-217 (2022)
Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the cl
Externí odkaz:
https://doaj.org/article/62b5a45aa16b4142b4241695d8ff66da
Autor:
Joana Vilela, Hugo Martiniano, Ana Rita Marques, João Xavier Santos, Muhammad Asif, Célia Rasga, Guiomar Oliveira, Astrid Moura Vicente
Publikováno v:
Biomedicines, Vol 11, Iss 11, p 2971 (2023)
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes;
Externí odkaz:
https://doaj.org/article/8492c3e91fe24c3fbc61a96560a41b2e
Autor:
Susana Mouga, Isabel Catarina Duarte, Cátia Café, Daniela Sousa, Frederico Duque, Guiomar Oliveira, Miguel Castelo-Branco
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background The concomitant role of the Central Executive, the Saliency and the Social Cognition networks in autism spectrum disorder (ASD) in demanding ecological tasks remains unanswered. We addressed this question using a novel task-based
Externí odkaz:
https://doaj.org/article/13f71539f29f403792157d91c4b9b178
Autor:
Mariana Martins, Ana Rafaela Oliveira, Solange Martins, José Pedro Vieira, Pedro Perdigão, Ana Rita Fernandes, Luís Pereira de Almeida, Paulo Jorge Palma, Diana Bela Sequeira, João Miguel Marques Santos, Frederico Duque, Guiomar Oliveira, Ana Luísa Cardoso, João Peça, Catarina Morais Seabra
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 16, p 12603 (2023)
Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associate
Externí odkaz:
https://doaj.org/article/de2f2c0e68f442f9a3ad757642828910
Autor:
Teresa Sousa, Helena Catarina Pereira, Daniela Sousa, Joana Crisóstomo, Marta Teixeira, Diana Sousa, Ana Ferreira, Joana Amaral, Frederico Duque, Guiomar Oliveira, Kerstin Krauel, Carolin Breitling, Alexander Prehn, Michael Siniatchkin, Miguel Castelo-Branco
Publikováno v:
Brain Stimulation, Vol 16, Iss 1, Pp 337-338 (2023)
Externí odkaz:
https://doaj.org/article/cf809517c0cf440397101abc9c05f0cf