Genetic Change
Mostrando 1-12 de 963 artigos, teses e dissertações.
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1. Hereditary angioedema: a disease seldom diagnosed by pediatricians
Abstract Objectives: To describe the hereditary angioedema to improve awareness of this condition and reduce diagnostic delay. Data sources: Relevant articles in the MEDLINE database through PubMed. Data synthesis: Hereditary angioedema is rare and has an autosomal dominant pattern of inheritance. Its onset occurs mainly in childhood, but there is an impo
J. Pediatr. (Rio J.). Publicado em: 2021-04
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2. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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3. Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics
RESUMO Educação em genética é fundamental para o entendimento dos aspectos biológicos do binômio saúde-doença. Além disso, com a mudança do perfil epidemiológico, as doenças com determinantes genéticos tornaram-se mais relevantes como problema de saúde pública. Assim, manejar estas doenças, tanto em pacientes como em suas famílias, de forma
Rev. bras. educ. med.. Publicado em: 13/01/2020
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4. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020
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5. Embryo competence and cryosurvival: Molecular and cellular features
Abstract Global cattle genetic market is experiencing a change of strategy, large genetic companies, traditionally recognized in the artificial insemination field, have also begun to operate in the embryo market. Consequently, the demand for in vitro produced (IVP) embryos has grown. However, the overall efficiency of the biotechnology process remains low. A
Anim. Reprod.. Publicado em: 28/11/2019
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6. Reproductive physiology of the heat-stressed dairy cow: implications for fertility and assisted reproduction
Abstract Heat stress causes a large decline in pregnancy success per insemination during warm times of the year. Improvements in fertility are possible by exploiting knowledge about how heat stress affects the reproductive process. The oocyte can be damaged by heat stress at the earliest stages of folliculogenesis and remains sensitive to heat stress in the
Anim. Reprod.. Publicado em: 28/11/2019
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7. CONTEMPORARY AND FUTURE POTENTIAL GEOGRAPHIC DISTRIBUTION OF Cedrela fissilis Vell. UNDER CLIMATE CHANGE SCENARIOS
RESUMO O objetivo do presente trabalho foi modelar o nicho climático de Cedrela fissilis Vell. e realizar a projeção espacial potencial contemporânea e futura, considerando diferentes cenários de mudanças climáticas. Os dados de ocorrência da espécie foram obtidos a partir do banco de dados do SpeciesLink e GBIF. Os dados de altitude e 19 variáveis
Rev. Árvore. Publicado em: 25/11/2019
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8. Evaluating early selection in perennial tropical forages
Abstract Perennial grass hybrids of Urochloa are evaluated for at least two years during the screening stage trials (SS) and advanced trials (AD) in breeding programs, an expensive and time-consuming process. In this study, we aimed to evaluate the potential for early selection of cultivars in this breeding scheme. We used multiple measurements of agronomic
Crop Breed. Appl. Biotechnol.. Publicado em: 31/10/2019
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9. ANALYSIS OF LACTOSE INTOLERANCE IN STUDENTS WITH SUGGESTIVE SYMPTOMS OF IRRITABLE BOWEL SYNDROME
RESUMO CONTEXTO: A síndrome do intestino irritável é uma condição clínica que cursa com dor, distensão e plenitude abdominal, diarreia, constipação, entre outros sintomas. Gera impacto significativo na qualidade de vida das pessoas acometidas. Sua fisiopatologia é incerta, mas o papel de vários tipos de alimentos está estabelecido na sensibiliz
Arq. Gastroenterol.. Publicado em: 30/09/2019
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10. Risk of genetic vulnerability and aspects of the reproductive biology of Psychotria ipecacuanha (Rubiaceae), a threatened medicinal plant species of Brazilian forests
ABSTRACT Psychotria ipecacuanha, commonly known as Ipeca, is a medicinal plant of pharmacological and economic value. The species is distylous; it has populations with two floral morphs, one with long and one with short styles. Apart from the presence of two floral morphs in a balanced ratio (1:1), reciprocal herkogamy of the reproductive organs between alte
Acta Bot. Bras.. Publicado em: 12/09/2019
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11. Growth of radiata pine families in nursery and two years after field establishment
ABSTRACT: Pinus radiata D. Don is the most widely planted exotic species in Australia, Chile, New Zealand and Spain. In this study, growth and survival of P. radiata were compared in 30 open pollinated families grown under two contrasting watering regimes in nursery (well-watered cf. water-stress conditions) and planted on a drought-prone site with Mediterra
Sci. agric. (Piracicaba, Braz.). Publicado em: 05/09/2019
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12. ENDOPHYTIC FUNGI FROM THE BRAZILIAN FLORA AND THEIR EMPLOYMENT IN BIOTRANSFORMATION REACTIONS
The biotransformation reactions are used as a successful alternative to derivatization by the traditional chemistry because they conduct to uncommon reactions, which would hardly be carried out by chemical synthesis. A wide diversity of compounds may be metabolized by fungi, leading to chemical derivatives through selective reactions that work under ecofrien
Quím. Nova. Publicado em: 26/08/2019