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Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 8, p. 1511, doi. 10.1002/ajh.27350
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- Publication type:
- Article
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.
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- International Journal of Laboratory Hematology, 2024, v. 46, n. 4, p. 595, doi. 10.1111/ijlh.14307
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- Publication type:
- Article
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication.
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- EMBO Reports, 2024, v. 25, n. 7, p. 2974, doi. 10.1038/s44319-024-00164-z
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- Publication type:
- Article
Modeling a Zero-Emissions Hydrogen-Powered Catamaran Ferry Using AVL Cruise-M Software.
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- Journal of Marine Science & Engineering, 2024, v. 12, n. 5, p. 770, doi. 10.3390/jmse12050770
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- Publication type:
- Article
Method Comparison of Erythrocyte Sedimentation Rate Automated Systems, the VES-MATIC 5 (DIESSE) and Test 1 (ALIFAX), with the Reference Method in Routine Practice.
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- Journal of Clinical Medicine, 2024, v. 13, n. 3, p. 847, doi. 10.3390/jcm13030847
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- Publication type:
- Article
Image quality assessment in low-dose COVID-19 chest CT examinations.
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- Acta Radiologica, 2024, v. 65, n. 1, p. 3, doi. 10.1177/02841851231153797
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- Publication type:
- Article
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 130, doi. 10.3390/genes15010130
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- Publication type:
- Article
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02798-z
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- Publication type:
- Article
Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers.
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- American Journal of Hematology, 2023, v. 98, n. 6, p. E130, doi. 10.1002/ajh.26901
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- Publication type:
- Article
Plant Essential Oils as Biocides in Sustainable Strategies for the Conservation of Cultural Heritage.
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- Sustainability (2071-1050), 2023, v. 15, n. 11, p. 8522, doi. 10.3390/su15118522
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- Publication type:
- Article
Performance Assessment of the Heat Recovery System of a 12 MW SOFC-Based Generator on Board a Cruise Ship through a 0D Model.
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- Energies (19961073), 2023, v. 16, n. 8, p. 3334, doi. 10.3390/en16083334
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- Publication type:
- Article
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
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- American Journal of Hematology, 2023, v. 98, n. 4, p. E72, doi. 10.1002/ajh.26863
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- Publication type:
- Article
Clinical features and outcome of difficult-to-treat infections in a high-intensity medical care ward.
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- Minerva Medica, 2023, v. 114, n. 2, p. 239, doi. 10.23736/S0026-4806.20.06467-8
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- Publication type:
- Article
Special Issue on "Insights on Ecotoxicological Effects of Anthropogenic Contaminants in Aquatic Organisms".
- Published in:
- Toxics, 2023, v. 11, n. 4, p. 311, doi. 10.3390/toxics11040311
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- Publication type:
- Article
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31571-2
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- Publication type:
- Article
Preliminary Investigation of a Multi-MW Solid Oxide Fuel Cell Power Plant to be Installed on Board a Cruise Ship.
- Published in:
- CET Journal - Chemical Engineering Transactions, 2023, v. 99, p. 577, doi. 10.3303/CET2399097
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- Publication type:
- Article
Inflammation and the Potential Implication of Macrophage-Microglia Polarization in Human ASD: An Overview.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2703, doi. 10.3390/ijms24032703
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- Publication type:
- Article
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.956723
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- Publication type:
- Article
Time to Effective Therapy Is an Important Determinant of Survival in Bloodstream Infections Caused by Vancomycin-Resistant Enterococcus spp.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11925, doi. 10.3390/ijms231911925
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- Publication type:
- Article
Rheumatoid arthritis and osteogenesis imperfecta: is there a genetic causal association?
- Published in:
- 2022
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- Publication type:
- Letter
The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*.
- Published in:
- British Journal of Haematology, 2022, v. 198, n. 3, p. 459, doi. 10.1111/bjh.18191
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- Publication type:
- Article
Gene Expression Analysis of the Stress Response to Lithium, Nickel, and Zinc in Paracentrotus lividus Embryos.
- Published in:
- Toxics, 2022, v. 10, n. 6, p. N.PAG, doi. 10.3390/toxics10060325
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- Publication type:
- Article
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia.
- Published in:
- Clinical Case Reports, 2022, v. 10, n. 2, p. 1, doi. 10.1002/ccr3.5315
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- Publication type:
- Article
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1304, doi. 10.3390/ijms23031304
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- Publication type:
- Article
Novel Insights and Future Perspective in Iron Metabolism and Anemia.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/metabo12020138
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- Publication type:
- Article
LY294002 Inhibits Intermediate Conductance Calcium-Activated Potassium (KCa3.1) Current in Human Glioblastoma Cells.
- Published in:
- Frontiers in Physiology, 2022, v. 12, p. 1, doi. 10.3389/fphys.2021.790922
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- Publication type:
- Article
Editorial: Genetics and Genomics of Red Blood Cells.
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- 2022
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- Publication type:
- Editorial
Recommendations for diagnosis and treatment of methemoglobinemia.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 12, p. 1666, doi. 10.1002/ajh.26340
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- Publication type:
- Article
MiRNAs Expression Profiling in Raw264.7 Macrophages after Nfatc1-Knockdown Elucidates Potential Pathways Involved in Osteoclasts Differentiation.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 11, p. 1080, doi. 10.3390/biology10111080
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- Publication type:
- Article
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9548, doi. 10.3390/ijms22179548
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- Publication type:
- Article
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 958, doi. 10.3390/genes12070958
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- Publication type:
- Article
Lo Sguardo simbolico nella relazione adulto-bambino-adolescente: una esperienza formativa online sui gruppi di psicodramma in età evolutiva.
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- Gruppi, 2021, n. 2, p. 51, doi. 10.3280/gruoa2-2021oa15806
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- Publication type:
- Article
Comparison Between Hospitalized Patients Affected or Not Affected by Coronavirus Disease 2019.
- Published in:
- 2021
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- Publication type:
- Letter to the Editor
The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 881, doi. 10.3390/genes12060881
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- Publication type:
- Article
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model.
- Published in:
- 2021
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- Publication type:
- journal article
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5372, doi. 10.3390/ijms22105372
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- Publication type:
- Article
Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82426-7
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- Publication type:
- Article
Osteoclasts Differentiation from Murine RAW 264.7 Cells Stimulated by RANKL: Timing and Behavior.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 2, p. 117, doi. 10.3390/biology10020117
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- Publication type:
- Article
Neurotoxicity in Marine Invertebrates: An Update.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 2, p. 161, doi. 10.3390/biology10020161
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- Publication type:
- Article
FRESHWATER CYANOBACTERIA, IDENTIFIED BY MICROSCOPIC AND MOLECULAR INVESTIGATIONS ON A COLONIZED FOUNTAIN SURFACE: A CASE STUDY IN PALERMO (SICILY, ITALY).
- Published in:
- Conservation Science in Cultural Heritage / Quaderni di Scienza della Conservazione, 2021, v. 21, p. 205, doi. 10.48255/1973-9494.JCSCH.21.2021.09
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- Publication type:
- Article
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.613559
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- Publication type:
- Article
Uridine treatment normalizes the congenital dyserythropoietic anemia typeII‐like hematological phenotype in a patient with homozygous mutation in the CAD gene.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 11, p. 1423, doi. 10.1002/ajh.25946
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- Publication type:
- Article
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00872
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- Publication type:
- Article
RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 15, p. 5577, doi. 10.3390/ijms21155577
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- Publication type:
- Article
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00864-x
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- Publication type:
- Article
Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 2, p. 188, doi. 10.1002/ajh.25683
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- Publication type:
- Article
MITF: an evolutionarily conserved transcription factor in the sea urchin Paracentrotus lividus.
- Published in:
- Genetica, 2019, v. 147, n. 5/6, p. 369, doi. 10.1007/s10709-019-00077-z
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- Publication type:
- Article
SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 20, p. 10728, doi. 10.1093/nar/gkz798
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- Publication type:
- Article
The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant.
- Published in:
- American Journal of Hematology, 2019, v. 94, n. 11, p. 1227, doi. 10.1002/ajh.25613
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- Publication type:
- Article