Heterozygosity
Mostrando 1-12 de 844 artigos, teses e dissertações.
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1. Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this study was to describe a large family with 12 members affected by bipolar disorder. Whole-exome sequencing
Brazilian Journal of Psychiatry. Publicado em: 2023
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2. Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil
ABSTRACT Introduction: Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G>A and g.20210G>A) and hyperhomocysteinemia (g.6
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected
Archives of Endocrinology and Metabolism. Publicado em: 2022
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4. Selection strategies in a segregating passion fruit population aided by classic and molecular techniques
ABSTRACT Combining the use of agronomic, disease-resistance, and molecular informationcan greatly contribute to genetic progress in breeding programs. This study was developed to estimate the genetic distance between genotypes derived from backcrosses and their parents using morphoagronomic and molecular information and information pertaining to resistance t
Bragantia. Publicado em: 2020-03
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5. Genetic diversity of eight wild populations of Pampus argenteus along the coast of China inferred from fifteen polymorphic microsatellite markers
Abstract Pampus argenteus (Perciformes: Stromateidae) is widely distributed along the coast of China, Indian Ocean, Arabian Gulf and North Sea. Due to overfishing and environmental degradation, its resources reduced year after year. Thus, new management strategies are urgently needed for the sustainable growth and utilization of this species. Characterizatio
Braz. j. oceanogr.. Publicado em: 02/12/2019
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6. Inferring mating system parameters in forage peanut, Arachis pintoi, for Brazilian Amazon conditions
RESUMO A busca por alternativas para aumentar a produtividade e a sustentabilidade da pecuária na região Amazônica sem aumentar o desmatamento é desafiadora. Pastagens consorciadas de gramíneas com amendoim forrageiro (Arachis pintoi) têm mostrado impactos econômicos positivos. Porém, lacunas no conhecimento da biologia reprodutiva do amendoim forrag
Acta Amaz.. Publicado em: 04/11/2019
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7. Genetic variability revealed by microsatellite markers in a germplasm collection of Jatropha curcas L. in Brazil: an important plant for biofuels
Abstract We evaluated the genetic variability of a collection of Jatropha curcas germplasm, represented by 93 accessions, using microsatellite markers. Among the 60 markers tested, five of them detected polymorphisms, with a total of 11 alleles and mean of 2.2 alleles per loci. These five markers enabled the quantification of genetic variability through esti
Crop Breed. Appl. Biotechnol.. Publicado em: 31/10/2019
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8. Analysis on genetic diversity of 51 Grape germplasm resources
RESUMO: O objetivo deste estudo é investigar a diversidade genética da uva ‘Zuijinxiang’ e de suas plantas F1 reprodutoras mutantes. Foram selecionadas as melhores plantas mutantes com potencial e valor genético. Utilizaram-se como objeto de pesquisa 50 plantas individuais mutantes obtidas de sementes de uva irradiadas com 137Cs-γ ‘Zuijinxiang’,
Cienc. Rural. Publicado em: 21/10/2019
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9. Mechanisms and biomarker candidates in pterygium development
RESUMO A patogênese do pterígio tem sido relacionada, prin cipalmente, à exposição à luz ultravioleta, mas esta asso ciação permanece bastante controversa. O mecanismo completo do pte rígio também permanece por esclarecer. Fatores como inflamação, infecção viral, estresse oxidativo, metilação do DNA, mediadores inflamatórios, moduladores de
Arq. Bras. Oftalmol.. Publicado em: 30/09/2019
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10. Population Structure and Genetic Diversity of Sweet Cassava Accessions from the Midwestern, Southeastern and Southern Regions of Brazil
Abstract The objective of this work was to screen sweet cassava accessions collected in smallholding areas in the Midwestern, Southeastern and Southern regions of Brazil, using 15 SSR molecular markers, to determine population structure and genetic diversity. Polymorphism was detected in every loci analyzed, with mean of 6.33 alleles per locus, and mean poly
Braz. arch. biol. technol.. Publicado em: 05/09/2019
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11. A lima bean core collection based on molecular markers
ABSTRACT Some germplasm collections have a high number of accessions, which makes it difficult to explore the genetic variability present in the germplasm bank due to the redundancy and the difficulty of detailed analysis of all conserved accessions. Therefore, our study aimed to analyze the genetic diversity of 153 lima bean (Phaseolus lunatus) accessions f
Sci. agric. (Piracicaba, Braz.). Publicado em: 02/09/2019
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12. Simulation of pattern of gene flow in Canjerana fragments in the Brazilian Atlantic Rainforest for evaluating genetic conservation strategies
RESUMO: O fluxo gênico, cuja efetividade é função do modelo e da taxa, assume especial importância na conservação de recursos genéticos por permitir a conectividade de populações isoladas geograficamente, sujeitas à redução da variabilidade genética. O entendimento de como o fluxo gênico ocorre pode contribuir no planejamento de ações para
Cienc. Rural. Publicado em: 15/07/2019