Novel Insights and Future Perspective in Iron Metabolism and Anemia

por Andolfo, Immacolata, Russo, Roberta
Publicado 2022

Hereditary spherocytosis and allied disorders

por Russo, Roberta, Andolfo, Immacolata
Publicado 2019

Editorial: Genetics and Genomics of Red Blood Cells

por Iolascon, Achille, Russo, Roberta, Andolfo, Immacolata
Publicado 2022

Nobel prize in physiology or medicine 2021, receptors for temperature and touch: Implications for hematology

por Andolfo, Immacolata, Alper, Seth L., Iolascon, Achille
Publicado 2021

Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations

por Russo, Roberta, Andolfo, Immacolata, Lasorsa, Vito Alessandro, Iolascon, Achille, Capasso, Mario
Publicado 2020

Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias

por Russo, Roberta, Marra, Roberta, Rosato, Barbara Eleni, Iolascon, Achille, Andolfo, Immacolata
Publicado 2020

Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells

por Cimmino, Flora, Pezone, Lucia, Avitabile, Marianna, Acierno, Giovanni, Andolfo, Immacolata, Capasso, Mario, Iolascon, Achille
Publicado 2015

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

por Zama, Daniele, Giulietti, Giulia, Muratore, Edoardo, Andolfo, Immacolata, Russo, Roberta, Iolascon, Achille, Pession, Andrea
Publicado 2020

Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge

por Rosato, Barbara Eleni, Alper, Seth L., Tomaiuolo, Giovanna, Russo, Roberta, Iolascon, Achille, Andolfo, Immacolata
Publicado 2022

Rheumatoid arthritis and osteogenesis imperfecta: is there a genetic causal association?

por Mormile, Ilaria, Russo, Roberta, Andolfo, Immacolata, de Paulis, Amato, Rossi, Francesca Wanda, Rendina, Domenico
Publicado 2022

Kinome multigenic panel identified novel druggable EPHB4‐V871I somatic variant in high‐risk neuroblastoma

por Andolfo, Immacolata, Lasorsa, Vito A., Manna, Francesco, Rosato, Barbara E., Formicola, Daniela, Iolascon, Achille, Capasso, Mario
Publicado 2020

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway

por De Rosa, Gianluca, Andolfo, Immacolata, Marra, Roberta, Manna, Francesco, Rosato, Barbara Eleni, Iolascon, Achille, Russo, Roberta
Publicado 2020

Deferasirox-induced robust and dose-dependent reversal of anemia in a patient with variants in the TRIB2 and ABCB6 genes

por Stomper, Julia, Richter-Pechanska, Paulina, Pfeifer, Dietmar, Andolfo, Immacolata, Iolascon, Achille, Muckenthaler, Martina U., Lübbert, Michael
Publicado 2022

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia

por Fawaz, Naglaa, Beshlawi, Ismail, Alqasim, Alauldeen, Zachariah, Mathew, Russo, Roberta, Andolfo, Immacolata, Gambale, Antonella, Pathare, Anil, Iolascon, Achille
Publicado 2022

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia

por Tornador, Cristian, Sánchez-Prados, Edgar, Cadenas, Beatriz, Russo, Roberta, Venturi, Veronica, Andolfo, Immacolata, Hernández-Rodriguez, Ines, Iolascon, Achille, Sánchez, Mayka
Publicado 2019

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells

por Rosato, Barbara Eleni, Marra, Roberta, D’Onofrio, Vanessa, Del Giudice, Federica, Della Monica, Simone, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Publicado 2022

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

por Andolfo, Immacolata, Martone, Stefania, Ribersani, Michela, Bianchi, Simona, Manna, Francesco, Genesio, Rita, Gambale, Antonella, Pignataro, Piero, Testi, Anna Maria, Iolascon, Achille, Russo, Roberta
Publicado 2020

Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants

por Martone, Stefania, Buonagura, Autilia Tommasina, Marra, Roberta, Rosato, Barbara Eleni, Del Giudice, Federica, Bonfiglio, Ferdinando, Capasso, Mario, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Publicado 2022

P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

por Marra, Roberta, Nostroso, Antonella, Maria Esposito, Federica, Eleni Rosato, Barbara, D’onofrio, Vanessa, D’alterio, Giuseppe, Capasso, Mario, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Publicado 2023

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein

por Russo, Roberta, Marra, Roberta, Andolfo, Immacolata, De Rosa, Gianluca, Rosato, Barbara Eleni, Manna, Francesco, Gambale, Antonella, Raia, Maddalena, Unal, Sule, Barella, Susanna, Iolascon, Achille
Publicado 2019