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Mostrati risultati da 61 a 80 di 107
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Resolution of sickle cell disease–associated inflammation and tissue damage with 17R-resolvin D1 1.1 Articolo in rivista 2019 Matte, Alessandro; Recchiuti, Antonio; Federti, Enrica; Koehl, Bérengère; Mintz, Thomas; Nemer, Wassim El; Tharaux, Pierre-Louis; Brousse, Valentine; Andolfo, Immacolata; Lamolinara, Alessia; Weinberg, Olga; Siciliano, Angela; Norris, Paul C.; Riley, Ian R.; Iolascon, Achille; Serhan, Charles N.; Brugnara, Carlo; De Franceschi, Lucia
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant 1.1 Articolo in rivista 2019 Andolfo, Immacolata; Rosato, BARBARA ELENI; Marra, Roberta; De Rosa, G.; Manna, F.; Gambale, A.; Iolascon, A.; Russo, Roberta
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 1.1 Articolo in rivista 2019 Gambale, A.; Russo, Roberta; Andolfo, I.; Quaglietta, L.; De Rosa, G.; Contestabile, Valentina; De Martino, L.; Genesio, R.; Pignataro, P.; Giglio, S.; Capasso, M.; Parasole, R.; Pasini, B.; Iolascon, A.
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein 1.1 Articolo in rivista 2019 Russo, Roberta; Marra, R.; Andolfo, I.; De Rosa, G.; Rosato, B. E.; Manna, F.; Gambale, A.; Raia, M.; Unal, S.; Barella, S.; Iolascon, A.
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 1.1 Articolo in rivista 2019 Andolfo, Immacolata; De Rosa, Gianluca; Errichiello, Edoardo; Manna, Francesco; Rosato, Barbara Eleni; Gambale, Antonella; Vetro, Annalisa; Calcaterra, Valeria; Pelizzo, Gloria; De Franceschi, Lucia; Zuffardi, Orsetta; Russo, Roberta; Iolascon, Achille
Erythrocyte ion content and dehydration modulate maximal gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells 1.1 Articolo in rivista 2019 Rivera, A.; Vandorpe, D. H.; Shmukler, B. E.; Andolfo, I.; Iolascon, A.; Archer, N. M.; Shabani, E.; Auerbach, M.; Hamerschlak, N.; Morton, J.; Wohlgemuth, J. G.; Brugnara, C.; Snyder, L. M.; Alper, S. L.
Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M 1.1 Articolo in rivista 2018 Gnanasambandam, Radhakrishnan; Rivera, Alicia; Vandorpe, David H; Shmukler, Boris E; Brugnara, Carlo; Snyder, L Michael; Andolfo, Immacolata; Iolascon, Achille; Silveira, Paulo A; Hamerschlak, Nelson; Gottlieb, Philip; Alper, Seth L
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients 1.1 Articolo in rivista 2018 Andolfo, Immacolata; Russo, Roberta; Rosato, Barbara Eleni; Manna, Francesco; Gambale, Antonella; Brugnara, Carlo; Iolascon, Achille
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias 1.1 Articolo in rivista 2018 Russo, Roberta; Andolfo, Immacolata; Manna, Francesco; Gambale, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Caforio, Paola; Pinto, Valeria; Pignataro, Piero; Radhakrishnan, Kottayam; Unal, Sule; Tomaiuolo, Giovanna; Forni, Gian Luca; Iolascon, Achille
Hereditary stomatocytosis: An underdiagnosed condition 1.1 Articolo in rivista 2018 Andolfo, Immacolata; Russo, Roberta; Gambale, Antonella; Iolascon, Achille
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias 1.1 Articolo in rivista 2018 Mugnano, Martina; Memmolo, Pasquale; Miccio, Lisa; Merola, Francesco; Bianco, Vittorio; Bramanti, Alessia; Gambale, Antonella; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Ferraro, Pietro
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis 1.1 Articolo in rivista 2018 Andolfo, Immacolata; Manna, Francesco; De Rosa, Gianluca; Rosato, Barbara Eleni; Gambale, Antonella; Tomaiuolo, Giovanna; Carciati, Antonio; Marra, Roberta; De Franceschi, Lucia; Iolascon, Achille; Russo, Roberta
Peroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension 1.1 Articolo in rivista 2017 Federti, Enrica; Matté, Alessandro; Ghigo, Alessandra; Andolfo, Immacolata; James, Cimino; Siciliano, Angela; Leboeuf, Christophe; Janin, Anne; Manna, Francesco; Choi, Soo Young; Iolascon, Achille; Beneduce, Elisabetta; Melisi, Davide; Kim, Dae Won; Levi, Sonia; De Franceschi, Lucia
Recommendations regarding splenectomy in hereditary hemolytic anemias 1.1 Articolo in rivista 2017 Iolascon, Achille; Andolfo, Immacolata; Barcellini, Wilma; Corcione, Francesco; Garçon, Loïc; DE FRANCESCHI, Lucia; Pignata, Claudio; Graziadei, Giovanna; Pospisilova, Dagmar; Rees, David C; de Montalembert, Mariane; Rivella, Stefano; Gambale, Antonella; Russo, Roberta; Ribeiro, Leticia; Vives Corrons, Jules; Aguilar Martinez, Patricia; Kattamis, Antonis; Gulbis, Beatrice; Cappellini, MARIA DOMENICA; Roberts, Irene; Tamary, Hannah
Targeted Next Generation Sequencing Identifies a Novel ß-spectrin gene mutation A2059P in two Omani children with Hereditary Pyropoikilocytosis 1.1 Articolo in rivista 2017 Al Riyami, Arwa Z; Iolascon, Achille; Al Zadjali, Shoaib; Andolfo, Immacolata; Al Mammari, Sahima; Manna, Francesco; Al Rawas, Abdulhakim; King, May Jean; Russo, Roberta
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II 1.1 Articolo in rivista 2017 Russo, Roberta; Andolfo, Immacolata; Gambale, Antonella; DE ROSA, Gianluca; Manna, Francesco; Arillo, Alessandra; Wandroo, Farooq; Bisconte, Maria Grazia; Iolascon, Achille
Data demonstrating the role of peroxiredoxin 2 as important anti-oxidant system in lung homeostasis 1.1 Articolo in rivista 2017 Federti, Enrica; Matte, Alessandro; Ghigo, Alessandra; Andolfo, Immacolata; James, Cimino; Siciliano, Angela; Leboeuf, Christophe; Janin, Anne; Manna, Francesco; Choi, Soo Young; Iolascon, Achille; Beneduce, Elisabetta; Melisi, Davide; Kim, Dae Won; Levi, Sonia; De Franceschi, Lucia
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II 1.1 Articolo in rivista 2016 Russo, Roberta; Andolfo, Immacolata; Manna, Francesco; De Rosa, Gianluca; De Falco, Luigia; Gambale, Antonella; Bruno, Mariasole; Mattè, Alessandro; Ricchi, Paolo; Girelli, Domenico; De Franceschi, Lucia; Iolascon, Achille
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia 1.1 Articolo in rivista 2016 Andolfo, Immacolata; Russo, Roberta; Manna, Francesco; De Rosa, Gianluca; Gambale, Antonella; Zouwail, Soha; Detta, Nicola; Pardo, Catia Lo; Alper, Seth L; Brugnara, Carlo; Sharma, Alok K; De Franceschi, Lucia; Iolascon, Achille
Next generation research and therapy in red blood cell diseases 1.1 Articolo in rivista 2016 Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille
Mostrati risultati da 61 a 80 di 107
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