6 documents found, page 1 of 1
The effects of a multimodal exercise program plus brain games apps in cognitive...
Raimundo, A; Ferreira, S; Leite, N; Soares, G; Marmeleira, JINTRODUCTION The aging process leads to inevitable life changes and is characterized by a progressive loss of psychological and physiological functions (1). Often, these changes lead to institutionalization, where cognition and physical fitness tends to decline (2). Some studies have shown that multimodal exercise programs can have a broad impact in older adults, improving a number of cognitive and physical fun...
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmen...
Lopes, F; Torres, F; Soares, G; van Karnebeek, CD; Martins, C; Antunes, D; Silva, J; Muttucomaroe, L; Botelho, LF; Sousa, S; Rendeiro, P; Tavares, PMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, F; Torres, F; Soares, G; Barbosa, M; Silva, J; Duque, F; Rocha, M; Sá, J; Oliveira, G; Sá, MJ; Temudo, T; Sousa, S; Marques, C; Lopes, SBackground: 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 this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mec...
Lopes, F; Soares, G; Gonçalves-Rocha, M; Pinto-Basto, JM; Maciel, PMutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the litera...
A Síndrome de Smith-Lemli-Opitz: Características Fenotípicas e Genotípicas dos ...
Cardoso, ML; Bandeira, A; Lopes, A; Rodrigues, M; Venâncio, M; Sales Marques, J; Janeiro, P; Ferreira, I; Quelhas, D; Sequeira, S; Soares, GA síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários órgãos (salientando-se as do esqueleto e do aparelho urogenital), restrição de crescimento intra-uterino (RCIU), alterações comportamentais e atraso mental. É caus...
Clinical and Molecular Characterization of Diastrophic Dysplasia in the Portugu...
Barbosa, M; Sousa, AB; Medeira, A; Lourenço, T; Saraiva, J; Pinto-Basto, J; Soares, G; Fortuna, AM; Superti-Furga, A; Mittaz, L; Reis-Lima, M; Bonafé, LSLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related ...