about
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studiesMolecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesisRegulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells.The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.Iron refractory iron deficiency anemiaThe role of Matriptase-2 during the early postnatal development in humans.A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice.Mutations in the gene encoding DMT1: clinical presentation and treatment.Congenital dyserythropoietic anaemias: new acquisitionsHow I Diagnose Non-thalassemic Microcytic Anemias.Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP⁺ as Parkinson's disease cellular model.Human skin-derived keratinocytes and fibroblasts co-cultured on 3D poly ε-caprolactone scaffold support in vitro HSC differentiation into T-lineage committed cells.Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemiaIdentification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 geneIron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutationsDetection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Luigia De Falco
@en
Luigia De Falco
@es
Luigia De Falco
@nl
Luigia De Falco
@sl
type
label
Luigia De Falco
@en
Luigia De Falco
@es
Luigia De Falco
@nl
Luigia De Falco
@sl
prefLabel
Luigia De Falco
@en
Luigia De Falco
@es
Luigia De Falco
@nl
Luigia De Falco
@sl
P106
P31
P496
0000-0002-0553-2087