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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Artigalás,Osvaldo (1) Burin,Maira (1) Gaspar,P.A. (1) Giugliani,R. (1) Kiss,Andrea (1) Maluf,Sharbel (1) Paskulin,Giorgio (1) Pedron,C.G. (1) Pereira,M.L.S. (1) Riegel,Mariluce (1) Saraiva-Pereira,Maria Luiza (1) Schwartz,Ida Vanessa D. (1) Mais... Palavra-chave Metachromatic leukodystrophy (2) 22q13 deletion (1) ARSA gene (1) Apparently balanced translocation (1) Arylsulfatase A (1) Arylsulfatase A pseudodeficiency (1) Pseudodeficiency (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2012 (1) 1999 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity Genet. Mol. Biol. Artigalás,Osvaldo; Paskulin,Giorgio; Riegel,Mariluce; Burin,Maira; Saraiva-Pereira,Maria Luiza; Maluf,Sharbel; Kiss,Andrea; Schwartz,Ida Vanessa D.. A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features. Tipo: Info:eu-repo/semantics/article Palavras-chave: 22q13 deletion; Apparently balanced translocation; ARSA gene; Arylsulfatase A pseudodeficiency; Metachromatic leukodystrophy. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007 Arylsulfatase A pseudodeficiency in healthy Brazilian individuals BJMBR Pedron,C.G.; Gaspar,P.A.; Giugliani,R.; Pereira,M.L.S.. Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<FONT FACE="Symbol">®</font>G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual frequency of the N350S mutation was 20.7% (71 of 342 alleles) and 7.9% (27 of 342 alleles) for the 1524+95A<FONT FACE="Symbol">®</font>G mutation. The frequency of the ASA-PD allele in our population was estimated to be 7.9%. This is the first report of ASA-PD allele frequency in a South American population. In addition,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Arylsulfatase A; Pseudodeficiency; Metachromatic leukodystrophy. Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000800002 Registros recuperados: 2 Primeira ... 1 ... Última

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