Genetic Evaluation
Mostrando 1-12 de 835 artigos, teses e dissertações.
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1. Heritability of resistance to potato late blight in an F1 population of elite potato cultivars
ABSTRACT Phytophthora infestans is the most important disease in potato crops. Its control is based on the use of chemical products that have developed pathogen resistance and high economic and environmental impacts. To reduce these effects, the use of plant varieties or cultivars resistant to this pathogen has been proposed. The aim of this study was to eva
Revista Ceres. Publicado em: 2022
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2. Evaluation of the rs35996865 polymorphism of the ROCK1 gene in sepsis
SUMMARY OBJECTIVE: Sepsis is a complex and serious medical condition resulting from the activation of an innate host response to infections. The etiology of sepsis is complex and can be influenced by genetic susceptibility. The purpose of the present study was to investigate a possible association of Rho-kinase 1 (ROCK1) gene polymorphism with sepsis in a T
Revista da Associação Médica Brasileira. Publicado em: 2022
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3. When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these
Archives of Endocrinology and Metabolism. Publicado em: 2022
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4. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. Superiority index based on target traits reveals the evolution of Brazilian soybean cultivars over last half-century
ABSTRACT The objective of this work was to assess the breeding influences in different agronomic and physiological traits in Brazilian soybean cultivars, released between 1965 and 2011, to identify traits associated with modern cultivars. A total of 29 cultivars were evaluated in two locations in the 2016/17 crop season. Genotype selection based on agronomic
Rev. Ceres. Publicado em: 2021-08
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6. Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia
ABSTRACT Objectives: Alkaline phosphatase (ALP) is the main laboratory marker of hypophosphatasia (HPP), a rare disease unknown to most physicians. The prevalence of HPP has been widely discussed in the literature due to the diverse phenotypes of HPP. The purpose of this study was to search for patients with hypophosphatasemia based on previous biochemistry
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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7. Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study
ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrosp
Sao Paulo Med. J.. Publicado em: 2021-05
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8. Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, searching for articles since 2000 on PubMed using the ter
J. Pediatr. (Rio J.). Publicado em: 2021-04
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9. Combined immunodeficiencies
Abstract Objectives: Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies. The aim of this
J. Pediatr. (Rio J.). Publicado em: 2021-04
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10. EVALUATION OF DIVERSITY AND GENETIC STRUCTURE AS STRATEGIES FOR CONSERVATION OF NATURAL POPULATIONS OF Dalbergia nigra (Vell.) Allemão ex Benth.
ABSTRACT: The evaluation of diversity and genetic structure allows us to verify with precision the effect of evolutionary and anthropic processes on species. The objective of this research was to evaluate the divergence and the genetic structure of two natural populations of Dalbergia nigra, using molecular markers Inter Simple Sequence Repeats (ISSR). Leaf
CERNE. Publicado em: 2020-12
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11. Errata
Abstract Twenty-two colored-flesh potatoes and three commercial noncolored-flesh varieties – which were all raw as they were microwaved (800 W, 8 min) and fried (180 °C, 5 min) – were characterized in terms of functional, sensory aspects and suitability for use. Twelve genetic samples were more suitable for frying (> 20% dry matter), four for boiling (~
Alea. Publicado em: 2020-12
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12. Determination of some functional and sensory attributes and suitability of colored- and noncolored-flesh potatoes for different cooking methods
Abstract Twenty-two colored-flesh potatoes and three commercial noncolored-flesh varieties – which were all raw as they were microwaved (800 W, 8 min) and fried (180 °C, 5 min) – were characterized in terms of functional, sensory aspects and suitability for use. Twelve genetic samples were more suitable for frying (> 20% dry matter), four for boiling (~
Food Sci. Technol. Publicado em: 2020-12