Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias

by Roberta Russo, Roberta Russo, Roberta Marra, Roberta Marra, Barbara Eleni Rosato, Barbara Eleni Rosato, Achille Iolascon, Achille Iolascon, Immacolata Andolfo, Immacolata Andolfo
Published 2020-12-01

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

by Gianluca De Rosa, Immacolata Andolfo, Roberta Marra, Francesco Manna, Barbara Eleni Rosato, Achille Iolascon, Roberta Russo
Published 2020-08-01

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

by Roberta Russo, Roberta Russo, Roberta Marra, Roberta Marra, Immacolata Andolfo, Immacolata Andolfo, Gianluca De Rosa, Gianluca De Rosa, Barbara Eleni Rosato, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Antonella Gambale, Maddalena Raia, Sule Unal, Susanna Barella, Achille Iolascon, Achille Iolascon
Published 2020-08-01

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

by Roberta Russo, Roberta Russo, Roberta Marra, Roberta Marra, Immacolata Andolfo, Immacolata Andolfo, Gianluca De Rosa, Gianluca De Rosa, Barbara Eleni Rosato, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Antonella Gambale, Maddalena Raia, Sule Unal, Susanna Barella, Achille Iolascon, Achille Iolascon
Published 2019-05-01

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

by Immacolata Andolfo, Immacolata Andolfo, Gianluca De Rosa, Gianluca De Rosa, Edoardo Errichiello, Francesco Manna, Francesco Manna, Barbara Eleni Rosato, Barbara Eleni Rosato, Antonella Gambale, Antonella Gambale, Annalisa Vetro, Valeria Calcaterra, Gloria Pelizzo, Lucia De Franceschi, Orsetta Zuffardi, Roberta Russo, Roberta Russo, Achille Iolascon, Achille Iolascon
Published 2019-03-01

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

by Immacolata Andolfo, Stefania Martone, Barbara Eleni Rosato, Roberta Marra, Antonella Gambale, Gian Luca Forni, Valeria Pinto, Magnus Göransson, Vasiliki Papadopoulou, Mathilde Gavillet, Mohsen Elalfy, Antonella Panarelli, Giovanna Tomaiuolo, Achille Iolascon, Roberta Russo
Published 2021-06-01

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19

by Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, Sueva Cantalupo, Barbara Eleni Rosato, Ferdinando Bonfiglio, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Gabriella Esposito, Ivan Gentile, Carmelo Piscopo, Romolo Villani, Giuseppe Fiorentino, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso
Published 2021-04-01

Regulatory Noncoding and Predicted Pathogenic Coding Variants of <i>CCR5</i> Predispose to Severe COVID-19

by Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, Immacolata Andolfo, Giuseppe D’Alterio, Barbara Eleni Rosato, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Ivan Gentile, Carmelo Piscopo, Matteo Della Monica, Giuseppe Fiorentino, Giuseppe Russo, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso
Published 2021-05-01