Search Results - "Basagni, Chiara"
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Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
Published in Neurogenetics (01-03-2021)“…Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal…”
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Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population
Published in Frontiers in genetics (03-01-2022)“…Genome-wide association studies identified over 200 risk loci for multiple sclerosis (MS) focusing on common variants, which account for about 50% of disease…”
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Vitamin D Supplementation Modulates ICOS+ and ICOS− Regulatory T Cell in Siblings of Children With Type 1 Diabetes
Published in The journal of clinical endocrinology and metabolism (01-12-2020)“…Abstract Objectives Vitamin D plays an immunoregulatory activity. The aim of this study was to assess the correlation between blood serum 25(OH)D levels and…”
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Vitamin D Supplementation Modulates [ICOS.sup.+] and ICOS-Regulatory T Cell in Siblings of Children With Type 1 Diabetes
Published in The journal of clinical endocrinology and metabolism (01-12-2020)“…Objectives: Vitamin D plays an immunoregulatory activity. The aim of this study was to assess the correlation between blood serum 25(OH)D levels and Th17 and…”
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Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility
Published in Journal of genetics and genomics (20-06-2021)“…Among multiple sclerosis (MS) susceptibility genes, the strongest non-human leukocyte antigen (HLA) signal in the Italian population maps to the TNFSF14 gene…”
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Targeted Next-Generation Sequencing for the Identification of Genetic Predictors of Radiation-Induced Late Skin Toxicity in Breast Cancer Patients: A Preliminary Study
Published in Journal of personalized medicine (27-09-2021)“…Normal tissue radiosensitivity is thought to be influenced by an individual’s genetic background. However, the specific genetic variants underlying the risk of…”
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An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients
Published in Genes (13-10-2021)“…Known multiple sclerosis (MS) susceptibility variants can only explain half of the disease's estimated heritability, whereas low-frequency and rare variants…”
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