Genetic Heterogeneity
Mostrando 1-12 de 819 artigos, teses e dissertações.
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1. 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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2. Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it
Abstract Objective: This minireview gathers the scientific foundations of the literature on genetic errors in the development of the humoral immune system to help pediatricians suspect these defects. Sources: A systemic search using the PubMed MEDLINE database was performed for all Predominantly Antibody Deficiencies (PADs) described in the 2020 IUIS Exper
J. Pediatr. (Rio J.). Publicado em: 2021-04
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3. Inherited epidermolysis bullosa: update on the clinical and genetic aspects,
Abstract Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermo
An. Bras. Dermatol.. Publicado em: 2020-10
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4. Response to commentary by Howard Waitzkin
ABSTRACT Genetic diversity studies are performed based on information on a set of traits measured in a group of genotypes, considering one or more environments. The pattern recognition methods allow classifying genotypes from a set of important agronomic information. Thus, this study aimed to present and compare pattern recognition methods to inquire about t
Hist. cienc. saude-Manguinhos. Publicado em: 2020-09
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5. Patterns recognition methods to study genotypic similarity in flood-irrigated rice
ABSTRACT Genetic diversity studies are performed based on information on a set of traits measured in a group of genotypes, considering one or more environments. The pattern recognition methods allow classifying genotypes from a set of important agronomic information. Thus, this study aimed to present and compare pattern recognition methods to inquire about t
Bragantia. Publicado em: 2020-09
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6. FORTES E A LEGITIMAÇÃO DAS AÇÕES AFIRMATIVAS A PARTIR DA TEORIA DA JUSTIÇA DE JOHN RAWLS
ABSTRACT Genetic diversity studies are performed based on information on a set of traits measured in a group of genotypes, considering one or more environments. The pattern recognition methods allow classifying genotypes from a set of important agronomic information. Thus, this study aimed to present and compare pattern recognition methods to inquire about t
Cad. Pesqui.. Publicado em: 2020-09
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7. Characterization of a Chrysodeixis includens nucleopolyhedrovirus Isolate from Brazilian Cerrado and Assessment of its Co-Infection with Anticarsia gemmatalis multiple nucleopolyhedrovirus
Abstract Chrysodeixis includens has become the major Lepidopteran pest of soybean crops, especially in the Brazilian Cerrado (savanna) region. A native isolate of Chrysodeixis includens nucleopolyhedrovirus (ChinNPV) from this region, Buritis, MG, was assessed for its biological and molecular features. In addition, in vitro co-infection with Anticarsia gemm
Braz. arch. biol. technol.. Publicado em: 25/11/2019
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8. ASSOCIATIONS OF IL-6 -174G>C AND IL-10 -1082A>G POLYMORPHISMS WITH SUSCEPTIBILITY TO CELIAC DISEASE: EVIDENCE FROM A META-ANALYSIS AND LITERATURE REVIEW
RESUMO CONTEXTO: Há poucas evidências para sugerir que os IL-6 -174G>C e IL-10 -1082A>G polimorfismos são significativamente associados com susceptibilidade para doença celíaca. Assim, foi realizada a presente meta-análise para explorar a potencial associação entre estes polimorfismos com o risco de doença celíaca. MÉTODOS: Foram pesquisados e
Arq. Gastroenterol.. Publicado em: 30/09/2019
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9. Gas exchange, root hydraulic conductivity, water use efficiency and the growth of Toona ciliata clones and seedlings
Resumo As plantações florestais estabelecidas com mudas apresentam heterogeneidade e dificuldades de manejo. Assim, uma alternativa a estes obstáculos é o uso de clones com alta produtividade. Além disso, as plantas clonais diferem das plantas seminíferas na estrutura do sistema radicular, o que pode influenciar a eficiência na absorção de água e d
Ciênc. Florest.. Publicado em: 30/09/2019
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10. A meta-analysis on the association of genetic polymorphism of the angiotensin-converting enzyme and coronary artery disease in the chinese population
RESUMO OBJETIVO: Investigar a associação entre o polimorfismo de inserção ou deleção do genótipo do gene da enzima conversora da angiotensina (ACE) e a susceptibilidade da etnia Han chinesa para a doença arterial coronariana (DAC). Métodos: Foi realizada uma pesquisa abrangente para o valor de OR (Odds Ratio) de contraste entre o grupo de polimorf
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
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11. Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected
Genet. Mol. Biol.. Publicado em: 11/04/2019
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12. Genetic correlation between Prothrombin G20210A polymorphism and retinal vein occlusion risk
The aim of this study was to perform an updated meta-analysis to quantitatively investigate the association between G20210A polymorphism of Prothrombin gene and the risk of retinal vein occlusion (RVO), based on the available publications with inconsistent results. We utilized the Stata software to perform the heterogeneity test, association test, Begg's and
Braz J Med Biol Res. Publicado em: 08/04/2019