… Edsandra Campos Chagas1 Patrícia Oliveira Maciel Sandro Loris Aquino-Pereira … Da
mesma forma, sugeriu-se que os peixes têm o crescimento comprometido pela parasitose (Taraschewski …

Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria,
irrespective of mutation status. The aims of this study were (1) to define the clinical differences …

Conteúdo: Nos últimos anos tem crescido o registro de ocorrências de parasitos
acantocéfalos em pisciculturas de tambaqui da região Norte do Brasil, com relatos de perdas …

Background The aim of this work was to identify new genetic causes of Rett-like phenotypes
using array comparative genomic hybridisation and a whole exome sequencing approach. …

The aim of this study was to evaluate the prevalence and clinical manifestation of developmental
absence of maxillary permanent lateral incisors in the Portuguese population. The …

Background Direct detection of the gene mutation allows for the confirmation of the clinical
diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal …

The risk of developing neurodegenerative diseases increases with age. Although many of
the molecular pathways regulating proteotoxic stress and longevity are well characterized, …

The objective of this study was to identify possible predisposing factors for candiduria in
intensive care unit (ICU) patients from Hospital das Clínicas, Universidade Federal de Goiás, …

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder
that is clinically characterized by cerebellar ataxia and various associated symptoms. The …

Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide
repeat in a novel gene on 14q32. 1. We confirmed the presence of this expansion in 156 MJD …