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	Provedor de dados 74 (2) Autor Otto,Paulo A. (2) Braga,Maria Cristina C. (1) Horimoto,Andréa R.V.R. (1) Palavra-chave Genetic counseling (2) Recurrence risks (2) Maximum likelihood method (1) Nonsyndromic deafness (1) Penetrance rate (1) Tipo do documento Info:eu-repo/semantics/article (2) Ano 2012 (1) 2004 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Penetrance rate estimation in autosomal dominant conditions 74 Otto,Paulo A.; Horimoto,Andréa R.V.R.. Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; 3) specificity and heterogeneity issues; 4) penetrance rate estimates obtained through molecular testing of families; 5) lack of information about the phenotype of the pedigree generator; 6) genealogies containing grouped parent-offspring information; 7) ascertainment issues responsible for the inflation of K estimates. Tipo: Info:eu-repo/semantics/article Palavras-chave: Penetrance rate; Maximum likelihood method; Recurrence risks; Genetic counseling. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400006 Recurrence risks for isolated cases of nonsyndromic deafness 74 Braga,Maria Cristina C.; Otto,Paulo A.. We present, in this paper, general formulae developed so as to permit the calculation of the recurrence risks for isolated cases of nonsyndromic deafness in the offspring of nonconsanguineous and consanguineous couples. We included, in all analyzed situations, the following factors: (a) a generic degree of parental consanguinity; (b) a variable proportion of environmental (non-genetic) cases of the defect, so that the formulae can be easily applied to populations with any epidemiological profile; (c) a variable number of normal sibs of the propositus. Besides presenting the logic and the detailed derivation of all original formulae, we present tables for immediate use, with the numerical values of the recurrence risks as a function of the variables... Tipo: Info:eu-repo/semantics/article Palavras-chave: Nonsyndromic deafness; Recurrence risks; Genetic counseling. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200004 Registros recuperados: 2 Primeira ... 1 ... Última

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