about
New insights on hereditary erythrocyte membrane defectsMissense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cell line.Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.Galectin-1 and its involvement in hepatocellular carcinoma aggressivenessMolecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells.Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type IIReplication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibilityFunctional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemiaPediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives.Congenital dyserythropoietic anaemias: new acquisitionsIntegration of pharmacogenetics and pharmacogenomics in drug development: implications for regulatory and medical decision making in pediatric diseases.Inherited hematological disorders due to defects in coat protein (COP)II complex.Diagnosis and management of congenital dyserythropoietic anemias.SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells.Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population.Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C.Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis: Insulin resistance and response to antiviral therapy.Recommendations regarding splenectomy in hereditary hemolytic anemias.Protease inhibitors-based therapy induces acquired spherocytic-like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients.Next generation research and therapy in red blood cell diseases.A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain.Red cells in post-genomic era: impact of personalized medicine in the treatment of anemias.Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients.Hereditary stomatocytosis: An underdiagnosed condition.Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II.Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness.Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patientsCongenital dyserythropoietic anemias
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Roberta Russo
@ast
Roberta Russo
@en
Roberta Russo
@es
Roberta Russo
@nl
Roberta Russo
@sl
type
label
Roberta Russo
@ast
Roberta Russo
@en
Roberta Russo
@es
Roberta Russo
@nl
Roberta Russo
@sl
prefLabel
Roberta Russo
@ast
Roberta Russo
@en
Roberta Russo
@es
Roberta Russo
@nl
Roberta Russo
@sl
P1053
A-4441-2014
P106
P1153
56090686800
P21
P31
P3829
P496
0000-0002-3624-7721