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1.
Environ Mol Mutagen ; 37(2): 147-54, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11246221

RESUMO

The fluorogenic 5'-nuclease polymerase chain reaction (PCR) assay has been shown to be useful for quantifying a given DNA target in a sample. Here we show how an existing PCR protocol can be amended for quantification by incorporating distinctive dual-labeled, sequence-specific oligonucleotide probes and resulting in a two- to threefold broader and more reliable dynamic range than that of conventional end-point analysis of PCR products. Moreover, we show a multiplex situation in which two targets, one normal and one mutated, can be amplified and quantified simultaneously and in the same reaction tube. Use of this novel approach for quantitative PCR applications eliminates the need for post-PCR processing and has clinical- and research-based diagnostic applications, particularly for measuring levels of mutations in a mixture.


Assuntos
Desoxirribonucleases/metabolismo , Plasmídeos , Reação em Cadeia da Polimerase/métodos , Sequência de Bases , Primers do DNA , Corantes Fluorescentes , Humanos , Técnicas In Vitro , Moldes Genéticos
2.
Percept Mot Skills ; 84(2): 619-26, 1997 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9106858

RESUMO

30 adults received two learning trials on which they viewed computer images of urban scenes followed by a recognition test to assess the effect of visual detail on scene recognition. The scenes were shown in either high detail (photographic) or reduced detail. Analysis showed no main effect of detail on scene recognition; however, analysis of the interaction for sex x detail indicated that women recognized significantly more scenes in the photographic condition than in the two with reduced detail. Men showed no differences. The unexpected sex differences suggest the relevance of subjects' strategies during visual processing.


Assuntos
Sinais (Psicologia) , Aprendizagem por Discriminação , Memória , Percepção Visual , Adulto , Computadores , Feminino , Humanos , Masculino , Fotografação , Fatores Sexuais
3.
Genet Couns ; 5(3): 303-5, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-7811432

RESUMO

We report on a mother who had been treated for a ganglioneuroblastoma and her daughter who had a long segment aganglionosis. Review of the relevant literature and recent molecular findings warrant the conclusion that most likely, there is a causal relation between these two neurocristopathies.


Assuntos
Ganglioneuroblastoma/genética , Doença de Hirschsprung/genética , Neoplasias Torácicas/genética , Adulto , Pré-Escolar , Feminino , Ganglioneuroblastoma/diagnóstico , Doença de Hirschsprung/diagnóstico , Humanos , Lactente , Recém-Nascido , Fenótipo , Gravidez , Síndrome , Neoplasias Torácicas/diagnóstico
4.
Clin Genet ; 32(6): 398-402, 1987 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-3436090

RESUMO

A familial autosomal recessive form of isolated renal magnesium loss is presented. Two children in this family suffered from convulsions unrelated to hypomagnesemia. Magnesium infusion studies revealed a lowered threshold but a normal tubular maximum for magnesium. In contrast to two families with the autosomal dominant form of isolated renal magnesium wasting, the calcium excretion in the urine was normal.


Assuntos
Genes Recessivos , Rim/metabolismo , Deficiência de Magnésio/genética , Cálcio/sangue , Criança , Pré-Escolar , Feminino , Humanos , Testes de Função Renal , Potássio/sangue , Convulsões/genética , Sódio/sangue
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