Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Sónia Figueiroa"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, a
Externí odkaz:
https://doaj.org/article/0eb6eca9c8724fc49a7ff5803cf0d1f1
Autor:
Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease et
Externí odkaz:
https://doaj.org/article/bb7b4f8ceb644b0184506045e0ebf972
Autor:
Diana Bordalo, Tânia Lopes, Paula Fonseca, Fernanda Carvalho, Sónia Figueiroa, Cecília Martins
Publikováno v:
Ecos do Minho, Vol 11, Iss 1, Pp 11-14 (2016)
Introdução: Os tiques são as perturbações hipercinéticas mais comuns na infância. Correspondem a movimentos e/ou sons repetitivos, breves, intermitentes e sem objetivo. Podem classificar-se como motores/vocais e simples/complexos. Caso clíni
Externí odkaz:
https://doaj.org/article/61568199e2744c0391d81021764f5b6c
Publikováno v:
Neuropediatrics. 54:058-063
Background Pediatric-onset multiple sclerosis (POMS) accounts for 3 to 10% of all MS diagnoses. POMS is usually characterized by prominent disease activity, and patients are at higher risk of developing physical disability and cognitive impairment. O
Publikováno v:
Pediatric radiology.
CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its
Autor:
Paula Carneiro, Helena Felgueiras, Ana Martins da Silva, Ivânia Alves, Raquel Samões, Ana Paula Sousa, Luís Isidoro, Marta Arenga, Filipe Palavra, Ana Luísa Rocha, Inês Marques, Inês Correia, Teresa Mendonça, Maria José Sá, R. Sousa, Irene Mendes, Mariana Santos, João Durães, Filipa L. Sousa, Guilherme Gonçalves, Cátia Carmona, Carlos Basílio, Maria Isabel Leite, Lívia Sousa, Vanessa Cristina de Oliveira, Ana Sofia Correia, Sónia Figueiroa, Cláudia Melo, Ana André, Adelaide Palos, Pedro Abreu, Cândida Barroso, Vasco Salgado, Filipe Correia, Daniela Ferro, João Ferreira, Hipólito Nzwalo, Joana Guimarães, Sandra Perdigão, Armando Morganho, Esmeralda Neves, Ernestina Santos, Rui Azevedo Guerreiro, Angela Timóteo, João de Sá, Daniela Boleixa, Marta Sequeira
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. Objective: To identify Portuguese patients with NMOSD and assess their epidemiolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2d3d90af42448f03fc235ef6eec93a0
https://hdl.handle.net/10400.17/3964
https://hdl.handle.net/10400.17/3964
Autor:
Cecília Martins, João Moura, Sónia Figueiroa, Cristina Garrido, Joana Martins, Raquel Samões, Joana Guimarães, Cláudia Melo, Raquel Sousa, Filipe Palavra, João Ferreira, Ana Martins da Silva, Maria José Sá, Ernestina Santos
Publikováno v:
Multiple Sclerosis and Related Disorders. 59:103531
Neuromyelitis optica spectrum disorders (NMOSD) are more prevalent in adulthood, with few cases reported in pediatric age (18 years). In this group, anti-aquaporin 4 (AQP4) antibodies are less frequent, while antibodies against myelin oligodendrocyte
Autor:
Fernando Tapadinhas, Ana Sofia Correia, Patrícia Mota, João José Cerqueira, Rui Pedro Guerreiro, Filipe Palavra, Lívia Sousa, Sónia Figueiroa, Sofia Almeida, Maria José Sá, João de Sá
Publikováno v:
Multiple Sclerosis and Related Disorders. 51:102865
Background A significant proportion of pediatric-onset multiple sclerosis (POMS) patients do not respond to first-line disease-modifying therapies. Clinical trials showed that natalizumab is effective and safe in adults, but there are limited clinica
Autor:
Guiomar Oliveira, Marjan M. Weiss, Cristina Martins, Patrícia Maciel, Sónia Figueiroa, Diana Antunes, Cecília Martins, Gisela Barros, Susana Loureiro, C.C. Marques, Susana Sousa, Andreia Dias, Sofia Oliveira Lopes, Margarida Reis-Lima, Maria João Sá, Arminda Jorge, Céu Mota, Gabriela Soares, Fátima Torres, Mafalda Barbosa, Frederico Duque, João Silva, Maria José Cálix, Miguel Rocha, Elisa Cardoso, Catarina Gomes, Sara Cruz, Fátima Lopes, Sara Figueiredo, Purificação Tavares, Teresa Temudo, Ana Maria Fortuna, Juliette Dupont, Felisbela Rocha, Adriana Sampaio, Bauke Ylstra, Jorge Pinto-Basto, Paul P. Eijk, Paula Rendeiro, Sandra Mesquita, Susana Gama-de-Sousa, Joaquim Sá
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0, https://doi.org/10.1186/s13023-019-1135-0
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0, https://doi.org/10.1186/s13023-019-1135-0
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a79b20530bd567d73d202397027bace
https://hdl.handle.net/10216/139000
https://hdl.handle.net/10216/139000
Autor:
Teresa Temudo, S. Pina, Sónia Figueiroa, Carmen Garrido, M. Santos, R. Chorão, Inês Carrilho, T. Monteiro
Publikováno v:
Anales de Pediatría, Vol 81, Iss 5, Pp 289-296 (2014)
Resumen: Introducción: La esclerosis tuberosa (ET) es una enfermedad de afectación multisistémica y gran variabilidad fenotípica. Están identificados 2 genes involved en la génesis de la enfermedad: TSC1 y TSC2. Objetivos: Caracterizar clínica