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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Kim,C.A. (2) Cerqueira,A. (1) Conti,U. (1) Corrêa,R.F.R. (1) Gonzalez,C.H. (1) Krieger,J.E. (1) Marie,S.K. (1) Marques-Dias,M.J. (1) Mesquita,S.F. (1) Mota,G.F. (1) Passos-Bueno,M.R. (1) Pereira,A.C. (1) Zatz,M. (1) Mais... Palavra-chave 22q11.2 (1) DiGeorge syndrome (1) PCR screening (1) Tipo do documento Info:eu-repo/semantics/article (2) Ano 2003 (1) 1999 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups BJMBR Pereira,A.C.; Corrêa,R.F.R.; Mota,G.F.; Kim,C.A.; Mesquita,S.F.; Krieger,J.E.. Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromosome 22q11 is associated with DiGeorge syndrome and certain forms of sporadic congenital cardiovascular disease. We have determined the value of a PCR assay using markers D22S941, D22S944 and D22S264 designed for the screening of 22q11.2 deletion through consecutive homozygosity in an ethnically admixed urban population. The study population comprised 149 unrelated men and women from three different ethnic groups (white, mulatto and black). Test specificity for the overall population was estimated at 98.3%. We found no significant difference when comparing heterozygosity indices and ethnicity (P value = 0.43 (D22S944), 0.22... Tipo: Info:eu-repo/semantics/article Palavras-chave: DiGeorge syndrome; PCR screening; 22q11.2. Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000012 Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients Genet. Mol. Biol. Kim,C.A.; Passos-Bueno,M.R.; Marie,S.K.; Cerqueira,A.; Conti,U.; Marques-Dias,M.J.; Gonzalez,C.H.; Zatz,M.. Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1:10,000 newborns. SMA is divided into acute (Werdnig-Hoffmann disease, type I), intermediate (type II) and juvenile forms (Kugelberg-Welander disease, type III). The gene of all three forms of SMA maps to chromosome 5q 11.2-13.3. Two candidate genes, the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene, have been identified; SMN is deleted in most SMA patients. We studied both genes in 87 Brazilian SMA patients (20 type I, 14 type II and 53 type III) from 74 unrelated families, by using PCR and single strand conformation polymorphism (SSCP). Deletions of exons 7 and/or 8 of the SMN gene were found in 69%... Tipo: Info:eu-repo/semantics/article Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000400005 Registros recuperados: 2 Primeira ... 1 ... Última

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