Search Results - "Henrique Ferreira Gomes, Leonardo"
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A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients
Published in Molecular genetics & genomic medicine (01-06-2019)“…Background Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at…”
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A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
Published in Scientific reports (03-08-2020)“…Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct imprinted disorders characterized by genetic abnormalities at 15q11-q13. Early…”
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Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome
Published in Frontiers in endocrinology (Lausanne) (13-12-2019)“…Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with…”
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Toxoplasmosis in pregnancy: a clinical, diagnostic, and epidemiological study in a referral hospital in Rio de Janeiro, Brazil
Published in The Brazilian journal of infectious diseases (01-11-2020)“…Toxoplasmosis in pregnant women can cause significant morbidity and mortality in the fetus, which may be mitigated by early diagnosis and treatment. Social…”
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Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil
Published in Orphanet journal of rare diseases (20-06-2024)“…Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and…”
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PCR-based diagnosis is not always useful in the acute acquired toxoplasmosis in immunocompetent individuals
Published in Parasitology research (1987) (01-02-2021)“…Toxoplasmosis is the most prevalent zoonosis in the world and is associated with a large spectrum of diseases. Acute acquired toxoplasmosis (AAT) is considered…”
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Impact of Genomic Deletion RD16 on the Expression of the Mycobacterium bovis BCG Moreau VapBC47 Toxin-Antitoxin System
Published in Current issues in molecular biology (07-08-2023)“…Mycobacterium bovis BCG is the only vaccine against tuberculosis. The variable forms of cultivation throughout the years, before seed-lots were developed,…”
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Real-time PCR in the diagnosis of congenital toxoplasmosis
Published in The Brazilian journal of infectious diseases (01-09-2023)“…The diagnosis of congenital toxoplasmosis presents limitations and therefore new options are necessary. The analysis of amniotic fluid by real-time PCR has…”
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Validation of Gene Expression Patterns for Oral Feeding Readiness: Transcriptional Analysis of Set of Genes in Neonatal Salivary Samples
Published in Genes (18-07-2024)“…Neonatal health assessment is crucial for detecting and intervening in various disorders. Traditional gene expression analysis methods often require invasive…”
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Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation
Published in Genes (18-05-2024)“…Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The…”
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P-glycoprotein efflux pump plays an important role in Trypanosoma cruzi drug resistance
Published in Parasitology research (1987) (01-06-2013)“…Drug resistance in protozoan parasites has been associated with the P-glycoprotein (Pgp), an energy-dependent efflux pump that transports substances across the…”
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Proteins involved on TGF-β pathway are up-regulated during the acute phase of experimental Chagas disease
Published in Immunobiology (1979) (01-05-2016)“…Abstract Studies developed by our group in the last years have shown the involvement of TGF-β in acute and chronic Chagas heart disease, with elevated plasma…”
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Mitigation of Socio-Economical Inequalities on the Profile of Healthcare Workers Infected with SARS-CoV-2 upon Vaccination: The Experience of a Brazilian Public Healthcare Institution during the Omicron Wave
Published in COVID (01-01-2023)“…Background: COVID-19 increased health inequalities worldwide. Even among healthcare workers, social-economical features enhanced the risk of infection (having…”
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The BCG Moreau RD16 deletion inactivates a repressor reshaping transcription of an adjacent gene
Published in Tuberculosis (Edinburgh, Scotland) (01-01-2014)“…Summary The Brazilian anti-tuberculosis vaccine strain Mycobacterium bovis bacillus Calmette–Guérin (BCG) BCG Moreau is unique in having a deletion of 7608 bp…”
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Reduced expression of IL-3 mediates intestinal mast cell depletion in diabetic rats: role of insulin and glucocorticoid hormones
Published in International journal of experimental pathology (01-04-2009)“…Summary Rats turned diabetic by alloxan treatment are refractory to systemic anaphylactic shock, in a direct association with reduced intestinal haemorrhage…”
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Functional impact of a deletion in Mycobacterium bovis BCG Moreau celA1 gene
Published in Tuberculosis (Edinburgh, Scotland) (01-12-2024)“…Several mycobacterial species are known to cause human diseases, such as tuberculosis and leprosy. In addition to these pathogenic species, there are also…”
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