5 documents found, page 1 of 1
Identification of genetic variants in 65 obesity related genes in a cohort of P...
Ginete, Catarina; Serrasqueiro, Bernardo; Silva-Nunes, José; Veiga, Luisa; Brito, MiguelObesity is a major public health problem, which has a strong genetic component that interplays with environmental factors. Several genes are known to be implicated in the regulation of body weight. The identification of alleles that can be associated with obesity is a key element to control this pandemic. On the basis of a Portuguese population, 65 obesity-related genes are sequenced using Next-Generation Seque...
The use of next-generation sequencing in the study of monogenic obesity
Serrasqueiro, Bernardo; Veiga, Luísa; Silva-Nunes, José; Brito, MiguelTechnological innovation opens the possibility for scientific discovery, especially in biology and medicine, which allows the development of different perspectives that can bring a new understanding regarding different pathologies. Technologies such as the Next-Generation Sequencing (NGS) allow us not only to decode the human genome but also to describe and identify gene polymorphisms that lead to the developme...
A utilização da ‘Next-Generation Sequencing’ no estudo da obesidade monogénica
Serrasqueiro, Bernardo; Veiga, Luísa; Silva-Nunes, José; Brito, MiguelObjetivo do estudo: Prevalência de mutações associadas à obesidade monogénica numa amostra de 36 pacientes obesos portugueses, utilizando tecnologia de sequenciação NGS.
Monogenic obesity in Portugal: the use of next generation sequencing (prelimina...
Brito, Miguel; Serrasqueiro, Bernardo; Veiga, Luísa; Silva-Nunes, JoséObesity arises from a complex interaction between genetic variance, environment, and lifestyle changes, and has become a major public health problem as a result of its increasing prevalence in most developed countries. Several genes have been implicated in obesity, namely ADRB1, ADRB2, ADRB3, BDNF, FTO; IGF2, IGF2R, LEP, LEPR, LRP2, MC1R; MC2R; MC3R; MC4R; NEGR1, NPY, NPY2R; NPY1R; NTRK2, PCSK1, POMC; SH2B1; SI...
O perfil dos pacientes observados no gabinete de rastreio da consulta de oftalm...
Serrasqueiro, Bernardo; Poças, Ilda; Castro, Paula MendesNo gabinete de rastreio de uma consulta de oftalmologia, realiza-se o primeiro contacto com o paciente e efectuam-se exames com o propósito de recolher indicadores e dados para a abordagem médica e facilitadores da consulta. Objectivos: Caracterizar os pacientes observados no gabinete de rastreio da consulta de oftalmologia, entre 30 de Setembro e 3 de Outubro de 2013, avaliando os seguintes parâmetros: pressão...