Fxs
Mostrando 1-9 de 9 artigos, teses e dissertações.
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1. Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil
Abstract: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to
An. Acad. Bras. Ciênc.. Publicado em: 23/09/2019
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2. Caries experience and salivary aspects in individuals with fragile X syndrome
Abstract Fragile X syndrome (FXS) is the most common cause of hereditary mental retardation, but studies on the oral health condition of these patients are rare. The aim of this study was to determine the experience of dental caries in individuals with FXS, by examining the saliva profile, oral hygiene, socioeconomic characteristics and use of controlled dru
Braz. oral res.. Publicado em: 09/10/2017
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3. Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle
ABSTRACT Fragile X syndrome (FXS) is a disorder linked to the chromosome X long arm (Xq27.3), which is identified by a constriction named fragile site. It determines various changes, such as behavioral or emotional problems, learning difficulties, and intellectual disabilities. Craniofacial abnormalities such as elongated and narrow face, prominent forehead,
J. Appl. Oral Sci.. Publicado em: 2016-10
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4. Depressed nNOS expression during spine transition in the developing hippocampus of FMR1 KO mice
Nitric oxide (NO), synthesized as needed by NO synthase (NOS), is involved in spinogenesis and synaptogenesis. Immature spine morphology is characteristic of fragile X syndrome (FXS). The objective of this research was to investigate and compare changes of postnatal neuronal NOS (nNOS) expression in the hippocampus of male fragile X mental retardation 1 gene
Braz J Med Biol Res. Publicado em: 2012-12
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5. O conhecimento de genética consolidado para o diagnóstico da Síndrome do X-frágil e o desafio da sua inclusão nas políticas públicas de saúde
Since DNA structure was described, several studies have been carried out in genetics that promoted a revolution in the practice of medicine. Human syndromes that were practically undiagnosed became easily diagnosed with molecular tools. However, most of the genetic diseases remain under diagnostic obscurity, increasing health concerns for affected people and
Publicado em: 2008
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6. Estudo da mutação fraxa em individuos do sexo masculino com deficiencia mental de etiologia não esclarecida
mong the mental deficiencies of genetic origin the group of X-linked mental retardation (XLMR) has got special attention. lnside this group 25 to 40% corresponds to cases of ftagile X syndrome (FXS). This designation is related to the presence of a ftagile site in the Xq27.3 region, genotypically represented by FRAXA, that is caused by thevariation in the nu
Publicado em: 2004
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7. Trajectories and Predictors of the Development of Very Young Boys with Fragile X Syndrome
Objective To describe the development of young boys with fragile X syndrome (FXS). Methods Fifty-five boys (aged 8–48 months at study entry) with the full mutation FXS received multiple developmental assessments. Results As expected, the boys’ rate of development was significantly lower than chronological age expectations. No evidence of slowin
Oxford University Press.
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8. The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95
Fragile X syndrome (FXS) is a common inherited cause of mental retardation resulting from the absence of the fragile X mental retardation protein (FMRP). FMRP is thought to regulate the translation of target mRNAs, including its own transcript. Here we show that the levels of FMRP are rapidly up-regulated in primary cortical neurons in response to the type-I
National Academy of Sciences.
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9. Altered Hippocampal Synaptic Plasticity in the Fmr1 Gene Family Knockout Mouse Models
Fragile X syndrome (FXS) is the most common form of inherited mental retardation. The syndrome results from the absence of the fragile X mental retardation protein (FMRP), which is encoded by the fragile X mental retardation 1 (FMR1) gene. FMR1 and its two paralogs, fragile X–related genes 1 and 2 (FXR1 and -2), form the Fmr1 gene family. Here, we examined
American Physiological Society.