Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda

			Busca avançada
	Provedor de dados Genet. Mol. Biol. (2) Autor Aminzadeh,Majid (1) Artigalás,Osvaldo (1) Burin,Maira (1) Golchin,Neda (1) Hajjari,Mohammadreza (1) Kiss,Andrea (1) Malamiri,Reza Azizi (1) Maluf,Sharbel (1) Mohammadi-asl,Javad (1) Paskulin,Giorgio (1) Riegel,Mariluce (1) Saraiva-Pereira,Maria Luiza (1) Schwartz,Ida Vanessa D. (1) Mais... Palavra-chave ARSA gene (2) 22q13 deletion (1) Apparently balanced translocation (1) Arylsulfatase A (1) Arylsulfatase A pseudodeficiency (1) Metachromatic leukodystrophy (1) Metachromatic leukodystrophy disorder (1) Mutation (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2017 (1) 2012 (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 Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder Genet. Mol. Biol. Golchin,Neda; Hajjari,Mohammadreza; Malamiri,Reza Azizi; Aminzadeh,Majid; Mohammadi-asl,Javad. Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients. Tipo: Info:eu-repo/semantics/article Palavras-chave: Metachromatic leukodystrophy disorder; ARSA gene; Mutation; Arylsulfatase A. Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500759 Registros recuperados: 2 Primeira ... 1 ... Última

Empresa Brasileira de Pesquisa Agropecuária - Embrapa Todos os direitos reservados, conforme Lei n° 9.610 Política de Privacidade Área restrita		Embrapa Parque Estação Biológica - PqEB s/n° Brasília, DF - Brasil - CEP 70770-901 Fone: (61) 3448-4433 - Fax: (61) 3448-4890 / 3448-4891 SAC: https://www.embrapa.br/fale-conosco