5 documents found, page 1 of 1
12q14 microduplication: A new clinical entity reciprocal to the microdeletion s...
Dória, S; Alves, D; Pinho, MJ; Pinto, JC; Leão, MBackground: 12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been characterized. Our main objective is the recognition of a new clinical entity-12q14 microduplication syndrome.-as well as confirming the role of HMGA2 gene in growth regulation. Case presentation: Array...
Enhanced cytotoxicity of prenylated chalcone against tumour cells via disruptio...
Leão, M; Soares, J; Gomes, S; Raimundo, L; Ramos, H; Bessa, C; Queiroz, G; Domingos, S; Pinto, M; Inga, A; Honorina Cidade; Lucilia SaraivaAim Chalcones are naturally occurring compounds with recognized anticancer activity. It was recently shown that the O-prenyl derivative (2) of 2-hydroxy-3,4,4,5,6-pentamethoxychalcone (1) had a remarkably increased cytotoxicity against human tumour cells compared to its precursor. With this study, we aimed to investigate the molecular mechanism underlying the improved tumour cytotoxicity of prenylchalcone 2. Ma...
Perturbação de Stress Pós-traumático em sobreviventes de doença oncológica
Araújo, C; Silva, R; Ferreira Leite, V; Leão, M
Evolução das classificações em Pedopsiquiatria
Araújo, C; Fontes, H; Leão, M; Laureano, M; Cartaxo, T; Leite, V
Síndrome de Léri-Weill: da deformidade de Madelung ao diagnóstico genético
Neiva, F; Martins, S; Castro-Correia, C; Costa, C; Leão, M; Fontoura, MA baixa estatura afecta cerca de 2% das crianças e representa um dos motivos mais frequentes da consulta de Endocrinologia Pediátrica. A heterogeneidade genética responsável pela baixa estatura sofreu um grande avanço com a descrição do gene SHOX ('short stature homeobox containing gene'). A proteína codificada localiza-se exclusivamente no núcleo de algumas células, e está envolvida na regulação do desenvolvim...