Genomic
Mostrando 1-12 de 13401 artigos, teses e dissertações.
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1. “Genomic Homeopathy” proposal: use of auto-isotherapic of DNA as a modulator of gene expression in chronic diseases
Revista da Associação Médica Brasileira. Publicado em: 2023
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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. Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome
SUMMARY OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing
Revista da Associação Médica Brasileira. Publicado em: 2022
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4. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diag
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. Evaluation of the Rho-kinase gene expression and polymorphisms in adult patients with acute appendicitis: a differential impact of gender
SUMMARY OBJECTIVE: Acute appendicitis represents one of the most common causes of acute intra-abdominal emergencies worldwide. In this case-control study, we aimed to investigate associations of Rho-kinase gene expression and polymorphisms with acute appendicitis in a Turkish population. We also aimed to study the effects of gender on these parameters. MET
Revista da Associação Médica Brasileira. Publicado em: 2022
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6. High prevalence of serological weak D phenotype and preponderance of weak D type 4.0.1. genetic variant in a Nigerian population: implications for transfusion practice in a resource-limited setting
ABSTRACT Introduction: Prevalence of RhD negative phenotype in Nigeria is low; this leads to scarcity of RhD negative red cells for transfusion. Serological and molecular genotyping of RhD negative individuals for weak D types could reduce this scarcity. The aim of this study was to determine the serological prevalence and molecular types of weak D phenotyp
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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7. A review of systems biology research of anxiety disorders
The development of “omic” technologies and deep phenotyping may facilitate a systems biology approach to understanding anxiety disorders. Systems biology approaches incorporate data from multiple modalities (e.g., genomic, neuroimaging) with functional analyses (e.g., animal and tissue culture models) and mathematical modeling (e.g., machine learning) to
Braz. J. Psychiatry. Publicado em: 2021-08
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8. A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma
SUMMARY Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodu
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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9. Identification of genomic imbalances in oral clefts
Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defec
J. Pediatr. (Rio J.). Publicado em: 2021-06
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10. Multidisciplinary diagnostics of chronic lymphocytic leukemia: European Research Initiative on CLL - ERIC recommendations
ABSTRACT Recent advances in chronic lymphocytic leukemia (CLL) includes description of disease genomic landscape, inclusion of prognostic relevant genetic tests in CLL workflow and evaluation of minimal residual disease (MRD)1 in parallel with the increase availability of novel therapy agents.In this review, the theoretical and practical aspects of response
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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11. Development of multiplex loop-mediated isothermal amplification for three foodborne pathogens
Abstract Staphylococcus aureus, Salmonella, and Shigella are three major foodborne pathogenic microorganisms that cause global public health problems. We developed a multiplex loop-mediated isothermal amplification (mLAMP) assay for simultaneous detection of S. aureus nuc, Salmonella fimY, and Shigella ipaH in fresh fruit juice using three sets of primers. I
Food Sci. Technol. Publicado em: 2020-06
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12. Genome composition and pollen viability of Jatropha (Euphorbiaceae) interspecific hybrids by Genomic In Situ Hybridization (GISH)
Abstract Interspecific hybridization is required for the development of Jatropha curcas L. improved cultivars, due to its narrow genetic basis. The present study aimed to analyze the parental genomic composition of F1 and BC1F1 generations derived from interspecific crosses (J. curcas/J. integerrima and J. curcas/J. multifida) by GISH (Genomic In Situ Hybrid
Genet. Mol. Biol.. Publicado em: 20/01/2020