10 documents found, page 1 of 1

Plagiarism as an academic literacy issue: the comprehension, writing and consul...

In aiming to frame plagiarism as an academic literacy issue, this paper focuses on the strategies used by firsts years Portuguese university students, when writing from sources, along with the relationship between these strategies and the way students view themselves as readers, writers and users of sources. The study was based on 44 short summary essays written by students as well as their responses to a quest...

Uma cultura de integridade para o ensino superior

Políticas institucionais, em Portugal, relativas à fraude académica

A fraude académica no Ensino Superior em Portugal: um estudo sobre a ética dos ...

Fragile X mental retardation 1 (FMR1) premutations: instability and associated ...

Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. FXS is caused by a (CGG)n expansion of over 200 repeats, in the 5’UTR of the FMR1 gene, which as a result is usually methylated and the gene silenced. Based on CGG repeat length, four classes of alleles can be distinguished: normal (5-44), intermediate (45-54), p...

Fragile X mental retardation 1 (FMR1) premutations: instability and associated ...

Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. FXS is caused by a (CGG)n expansion of over 200 repeats, in the 5’UTR of the FMR1 gene, which as a result is usually methylated and the gene silenced. Based on CGG repeat length, four classes of alleles can be distinguished: normal (5-44), intermediate (45-54), p...

Fragile X syndrome: intergenerational allele instability and associated phenoty...

Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. This disease is caused by a (CGG)n expansion in the 5’UTR of the FMR1 gene, which as a result is methylated and gene silenced. Four classes of alleles can be found based on CGG repeat length: normal (5-44), intermediate (45-54), premutation (55-200) and full muta...

FMR1 premutations may be associated with a wider spectrum of phenotypes

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...

Articulação entre a gestão da água e a conservação da natureza e da biodiversidade