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	Provedor de dados Anais da ABC (AABC) (1) BJMBR (1) Genet. Mol. Biol. (1) Autor BATISTA,JACQUELINE S. (1) Cabello,Pedro H. (1) Cendes,F. (1) Duro,Luiz Alves (1) FANTIN,CLEITON (1) FERREIRA,JORGE F.B. (1) Freitas,Silvia Regina Sampaio (1) Li,L.M. (1) Lopes-Cendes,I. (1) Moura-Neto,Rodrigo Soares (1) Ruocco,H.H. (1) Santos-Silva,M. (1) Mais... Palavra-chave Dynamic mutation (3) Autism spectrum disorders (1) Basal ganglia (1) CTG repeat (1) DMPK gene (1) Fragile X syndrome (1) Genotype-phenotype correlation (1) Huntington's disease (1) Magnetic resonance imaging (1) Molecular screening (1) Myotonic dystrophy (1) Neurodegeneration (1) Premutation (1) Trinucleotide repeat (1) Trinucleotide repeats (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Ano 2019 (1) 2007 (1) 2006 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil Anais da ABC (AABC) FERREIRA,JORGE F.B.; BATISTA,JACQUELINE S.; FANTIN,CLEITON. 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 be clinically and molecularly trialled for FXS due to the high levels of comorbidity between both conditions and also due to the variable expressiveness of this syndrome. This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this... Tipo: Info:eu-repo/semantics/article Palavras-chave: Autism spectrum disorders; Dynamic mutation; Fragile X syndrome; Molecular screening; Premutation; Trinucleotide repeats. Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000500805 Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat BJMBR Ruocco,H.H.; Lopes-Cendes,I.; Li,L.M.; Santos-Silva,M.; Cendes,F.. Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported. The objective of the present study was to perform MRI measurements of caudate, putamen, cerebral, and cerebellar volumes and correlate these findings with the length of the CAG repeat and clinical parameters. We evaluated 50 consecutive patients with HD using MRI volumetric measurements and compared them to normal controls. Age at onset of the disease ranged from 4 to 73 years (mean: 43.1 years). The length of the CAG repeat ranged from 40 to 69 (mean: 47.2 CAG). HD patients presented marked atrophy of the caudate and putamen, as well as reduced... Tipo: Info:eu-repo/semantics/article Palavras-chave: Neurodegeneration; Dynamic mutation; Genotype-phenotype correlation; Basal ganglia; Magnetic resonance imaging; Huntington's disease. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000800016 Analysis of the DMPK gene CTG repeat in healthy Brazilians Genet. Mol. Biol. Freitas,Silvia Regina Sampaio; Cabello,Pedro H.; Moura-Neto,Rodrigo Soares; Duro,Luiz Alves. Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine (CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals [(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles [(CTG)19-37]. According to this hypothesis, a positive correlation should be expected between the frequency of these large-sized normal alleles and the prevalence of the disorder in a population. We determined the distribution of CTG alleles of the DMPK gene in 156 healthy Brazilians from Rio de Janeiro city. Our analyses of 312 chromosomes detected 20 different alleles ranging in size from 5 to 27 CTG repeats, with 24... Tipo: Info:eu-repo/semantics/article Palavras-chave: Myotonic dystrophy; Dynamic mutation; Trinucleotide repeat; CTG repeat; DMPK gene. Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100004 Registros recuperados: 3 Primeira ... 1 ... Última

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