Listar por tema "Genetic testing"
Mostrando ítems 1-7 de 7
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Aconselhamento e empoderamento de informações genéticas em mulheres portadoras de variantes patogênicas associadas à distrofia muscular de Duchenne e Becker
(2022) [Tesis de maestría]Introdução: O advento do sequenciamento de nova geração e de terapias que atuam em alvos moleculares específicos para a distrofia muscular de Duchenne e Becker (DBMD) levou à ampliação no acesso à análise genética do DMD ... -
Brazilian consensus on Duchenne muscular dystrophy, Part 1 : diagnosis, steroid therapy and perspectives
(2017) [Artículo de periódico]Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus ... -
Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach
(2021) [Artículo de periódico]Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. His-torically, diagnosis is achieved by immunofluorescence mapping or transmission electronmicroscopy, both involving biopsy procedures. ... -
Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease : lessons from Brazil and Portugal
(2014) [Artículo de periódico]Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing ... -
Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
(2021) [Artículo de periódico]The prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims to address this disparity. BRCA analyses were performed on prospectively ... -
Genomic analysis in the clinic : benefits and challenges for health care professionals and patients in Brazil
(2015) [Artículo de periódico]Despite significant advances in the diagnosis and treatment of genetic diseases in the last two decades, there is still a significant proportion where a causative mutation cannot be identified and a definitive genetic ... -
Influência da cognição e do metabolismo lipídico-inflamatório-oxidativo no desempenho auditivo de idosos após adaptação de próteses auditivas
(2015) [Tesis]Esta tese teve como objetivos realizar o rastreamento de mutações genéticas associadas à perda auditiva; avaliar o status cognitivo, os níveis de estresse oxidativo, o perfil lipídico e inflamatório, além da percepção de ...