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Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo...

O hipotiroidismo congénito (HC) presente em cerca de 1:4000 recém-nascidos é considerado uma das principais causas, preveníveis, de atraso mental em crianças. O rastreio universal do HC realizado através do Programa Nacional de Diagnóstico Precoce, implementado em Portugal desde 1985, tem resultado num desenvolvimento normal da maioria das crianças com hipotiroidismo. Os defeitos congénitos da tiróide podem ser...

Advances in fragile-x testing

The Clinical Laboratory Genetics profession in Portugal

Abstrat publicado em: European Journal of Human Genetics. 2003;21(Suppl 2):413

FRAXE molecular diagnosis in individuals referred for FRAXA screening

FRAXE mental retardation is a form of mild to moderate intellectual disability generally associated with learning difficulties, communication deficits, attention problems, hyperactivity and autistic behavior. FRAXE (AFF2/ FMR2 gene) a folate-sensitive fragile site in Xq28 ~600 kb distal to the FRAXA (FMR1 gene) site is the most common form of inherited mental retardation. Molecular characterization revealed tha...

New trends in peptide-based anti-biofilm strategies : a review of recent achiev...

Antimicrobial peptides (AMPs) have a broad spectrum of activity and unspecific mechanisms of action. Therefore, they are seen as valid alternatives to overcome clinically relevant biofilms and reduce the chance of acquired resistance. This paper reviews AMPs and anti-biofilm AMP-based strategies and discusses ongoing and future work. Recent studies report successful AMP-based prophylactic and therapeutic strate...

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...

Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo...

Congenital hypothyroidism (CH) affects about 1:4000 infants and is considered one of the main causes of preventable mental retardation in children. Universal screening of CH performed through the Portuguese National Neonatal Screening Programme, implemented in Portugal in 1985, has resulted in normal development of attained children. Birth defects of the thyroid can be divided into several groups that represent...

Evaluating the influence of four variants detected in the FRAXA and FRAXE loci

Of the seven folate-sensitive fragile sites cloned in the human genome, only two have a proven clinical expression, FRAXA and FRAXE, the former with a well-documented clinical impact. The expansion of over 200 [CGG] triplets in the Fragile Mental Retardation 1 gene (FMR1), FRAXA locus, is associated with the Fragile X Syndrome (FXS), the most common form of familial severe mental retardation/intellectual disabi...

A multiplex assay for X-linked intellectual disability assessment

X-linked intellectual disability (XLID) represents a common cause of monogenic mental retardation, where X-linked conditions are easily identified in affected males, who inevitably manifest a phenotype when harboring a mutant allele, due to their hemizygozity (Chiurazzi et al., 2008). Among the genetic causes involved in XLID, mutations in the Fragile Mental Retardation 1 (FMR1), AF4/FMR2 family member 2 (FMR2)...

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...