Publications by authors named "Giulia Maneri"
Article Synopsis
- - Glucose 6 phosphate dehydrogenase (G6PD) is a crucial enzyme in the pentose phosphate pathway, and its deficiency in red blood cells can lead to acute haemolytic anaemia, especially triggered by oxidative stress from infections or certain foods and medications, such as fava beans.
- - A case study involving a 41-year-old woman from Italy revealed a novel genetic variant (c.1357G>A, p.(Val453Met)) linked to G6PD deficiency, confirmed through advanced DNA sequencing methods.
- - The research emphasizes the significance of Sanger sequencing as a reliable method for confirming genetic variants, particularly for those that may be misidentified using initial testing methods, aligning with WHO guidelines
The majority of tumor comprehensive genomic profiling (CGP) currently does not include a matched normal control. The use of a tumor-only CGP approach needs the development of a strategy to refine germline pathogenic/likely pathogenic variants (gP/LPVs) calls, so as to limit the performance of unnecessary germline reflex tests and instead successfully identify patients who are carriers of likely gP/LPVs. Guidelines have been developed for the identification of gP/LPVs in BRCA1/2 genes on the basis of tumor-only CGP results and for the evaluation of the appropriateness of performing germline reflex BRCA1/2 testing.
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- * An adult woman with ongoing respiratory issues underwent extensive genetic testing, leading to the identification of the novel haplotype F508del/E583G, with bioinformatics analyses suggesting that the E583G variant may be harmful.
- * The research highlights the importance of updated CFTR-RD guidelines, emphasizing the need for thorough evaluations when discovering new variants to provide better diagnostic and treatment options.
Fragile X syndrome (FXS) is mostly due to the expansion and subsequent methylation of a polymorphic CGG repeat in the 5' UTR of the gene. Full mutation alleles (FM) have more than 200 repeats and result in gene silencing and FXS. FMs arise from maternal premutations (PM) that have 56-200 CGGs; contractions of a maternal PM or FM are rare.
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