Associated Papers
Lack of association between G6PD variants and Parkinson disease.
Chifamba LV et al.
Hgg Advances, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.
Tacoli C et al.
Biorxiv : the Preprint Server for Biology, 2025
Biochemical screening of glucose-6-phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.
Raynor A et al.
British Journal of Haematology, 2025
G6PD Potenza: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.
Ricciardi Tenore C et al.
Genes, 2024
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto L et al.
The New England Journal of Medicine, 2018
Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.
Canu G et al.
Human Genome Variation, 2018
Glucose-6-phosphate dehydrogenase deficiency in Italian blood donors: prevalence and molecular defect characterization.
Maffi D et al.
Vox Sanguinis, 2014
Rapid and simple identification of the commonest glucose-6-phosphate dehydrogenase (G6PD) Italian mutations: from DNA extraction to genotyping.
Minucci A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion).
Minucci A et al.
Journal of Separation Science, 2008
G6PD deficiency: the genotype-phenotype association.
Mason PJ et al.
Blood Reviews, 2007
Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry.
Kiani F et al.
Plos One, 2007
Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
Maciag M et al.
Acta Biochimica Polonica, 2007
Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.
Patrinos GP et al.
Human Mutation, 2005
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.
Cittadella R et al.
Annals of Human Genetics, 1997
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.
Martinez di Montemuros F et al.
Haematologica, 0