Search Results - "Matta, Marina Cadena da"
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ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review
Published in American journal of medical genetics. Part A (01-10-2024)“…Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and…”
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Effect of spironolactone on the progression of coronary calcification in peritoneal dialysis patients: a pilot study
Published in Brazilian Journal of Nephrology (01-09-2019)“…There is evidence that aldosterone plays a role in the pathogenesis of vascular calcification. The aim of this study was to evaluate the effect of…”
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Is oxidized low-density lipoprotein the connection between atherosclerosis, cardiovascular risk and nephrolithiasis?
Published in Urolithiasis (01-08-2019)“…Nephrolithiasis is considered a systemic disease. A link has been established between nephrolithiasis, cardiovascular disease (CVD), the metabolic syndrome and…”
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Interleukin-6 in pregnancy with sickle cell disease
Published in Hematology, Transfusion and Cell Therapy (01-10-2019)“…Despite advances in health care for sickle cell disease patients, as well as in the improvement in reproductive issues mainly in women with the disease,…”
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Analysis of physical activity and plasma levels of soluble CD40 and CD40L in older people with gastrointestinal tract cancer
Published in Experimental gerontology (01-04-2022)“…Regular physical activity prevents and treats cancer patients by assisting and improving the immune system. Co-stimulatory molecules that activate the immune…”
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Chemokines in pregnant women with sickle cell disease
Published in Cytokine (Philadelphia, Pa.) (01-01-2019)“…•The mechanisms underlying pregnancy in Sickle Cell Disease are still not elucidated.•Chemokines play an important role in the physiopathology of sickle cell…”
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Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes
Published in Frontiers in genetics (30-08-2022)“…Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a…”
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