X Linked Mental Retardation
Mostrando 1-12 de 103 artigos, teses e dissertações.
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1. O cromossomo X e a deficiência mental no sexo masculino / The X chromossome and mental retardation on males
Este trabalho teve o objetivo de estimar a frequência de deficiência mental causada por mutações no cromossomo X entre pacientes do sexo masculino, que constituem casos isolados de deficiência mental. A estratégia adotada foi a determinação do padrão de inativação do cromossomo X nas mães dos afetados, com base (a) nas indicações de que desvios
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 20/06/2011
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2. O gene UBE2A (Ubiquitin conjugating enzyme 2 A) e a deficiência mental: triagem de mutações e estudos funcionais / UBE2A (Ubiquitin conjugating enzyme 2 A) gene and mental retardation: search for mutations and functional studies
Em trabalho anterior, identificamos a mutação c.382C8594;T no gene UBE2A, localizado em Xq24 e codificador de enzima conjugadora de ubiquitina, como causa de nova síndrome de deficiência mental (DM) de herança ligada ao cromossomo X. Foi a primeira descrição de mutação nesse gene e a primeira associação de mutação em gene que codifica conjugase
Publicado em: 2010
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3. Mutação no gene ACSL4 (acyl-CoA synthetase long-chain family member 4) como causa de deficiência mental de herança ligada ao X / Mutation in the ACSL4 (acyl-CoA synthetase long-chain family member 4) as the cause of X linked mental retardation
Estudamos uma família com cinco homens (dois falecidos) afetados por deficiência mental (DM) não-sindrômica em duas gerações, num padrão de herança ligada ao cromossomo X. A análise do padrão de inativação do cromossomo X, com base na metilação do gene AR, evidenciou que a mulher portadora obrigatória tinha desvio completo de inativação nos
Publicado em: 2009
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4. Identificação e estudo funcional de genes associados com doenças neurológicas / Identification an functional estudy of genes associated with neurological diseases
In this work we have used different approaches to the study of genes associated with CNS development and function as well as with neurological diseases: 1) one study involved the identification of the allele associated with an X-linked recessive sindromic form of mental retardation, Snyder-Robinson syndrome, in a Brazilian family. Using genetic linkage analy
Publicado em: 2008
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5. The FMR1 premutation as a cause of premature ovarian failure in Brazilian women
The loss-of-function mutation of the FMR1 gene due to expansion of the 5' UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active and produces the protein, confers an increased risk for premature ovarian failure (POF) to carrier females. A
Genetics and Molecular Biology. Publicado em: 2006
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6. Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population
In order to investigate the stability of the FMR1 (Fragile X Mental Retardation 1) alleles from the normal population, when maternally inherited, we analyzed 75 mother-to-son transmissions. Sixty-eight alleles fell within the common range with 20-40 CGG repeats, and seven alleles were intermediate, with 41-48 repeats. No change was observed either in the len
Genetics and Molecular Biology. Publicado em: 2005-03
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7. 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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8. Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain
Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X c
Genetics and Molecular Biology. Publicado em: 2002
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9. A new X linked syndrome with mental retardation and craniofacial dysmorphism?
We present a syndrome manifested in two half brothers and their two maternal aunts which is characterised in the two boys by severe mental retardation and craniofacial dysmorphism (broad, coarse features and marked plagiocephaly with flattened occiput), and in the aunts merely by moderate mental retardation without dysmorphic features. The brothers do not se
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10. Non-specific X linked mental retardation.
Non-specific X linked mental retardation (MRX) is mental retardation in persons of normal physical appearance who have no recognisable features apart from a characteristic pedigree. Review of published reports shows that there is clinical variability in the degree of mental retardation within families and genetic heterogeneity, based on gene localisation, be
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11. Familial X-linked mental retardation with an X chromosome abnormality.
An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males and most of their normal mothers were fo
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12. Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
Linkage analysis of a non-specific form of X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire X chromosome in a three generation Italian family, including four male patients with moderate mental retardation. One obligate carrier woman had mild mental retardation and another two had normal intelligence. The results