GAMBALE, ANTONELLA

GAMBALE, ANTONELLA  

Dipartimento di Medicina molecolare e Biotecnologie mediche  

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Titolo Tipologia Data di pubblicazione Autore(i) File
Diagnosis and management of congenital dyserythropoietic anemias 1.1 Articolo in rivista 2016 Gambale, Antonella; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta
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
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) 1.1 Articolo in rivista 2015 Andolfo, Immacolata; Russo, Roberta; Manna, Francesco; Shmukler, Boris E; Gambale, Antonella; Vitiello, Giuseppina; DE ROSA, Gianluca; Brugnara, Carlo; Alper, Seth L; Snyder, L. Michael; 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 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
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
Diagnosis and molecular characterization of a novel α0-thalassemia deletion (–Kozani) found in a Greek child with unexplained microcytic hypochromic anemia 1.1 Articolo in rivista 2017 Makis, A.; Georgiou, I.; Traeger-Synodinos, J.; Chaliasos, N.; Grosso, M.; Gambale, A.; Iolascon, A.
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings 1.1 Articolo in rivista 2017 Falco, Mariateresa; Franzè, Annamaria; Iossa, Sandra; De Falco, Luigia; Gambale, Antonella; Marciano, Elio; Iolascon, Achille
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
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
Hereditary stomatocytosis: An underdiagnosed condition 1.1 Articolo in rivista 2018 Andolfo, Immacolata; Russo, Roberta; Gambale, Antonella; 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
New insights on hereditary erythrocyte membrane defects 1.1 Articolo in rivista 2016 Andolfo, Immacolata; Russo, Roberta; Gambale, Antonella; Iolascon, Achille
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
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway 1.1 Articolo in rivista 2020 Andolfo, I.; Rosato, B. E.; Manna, F.; De Rosa, G.; Marra, R.; Gambale, A.; Girelli, D.; Russo, R.; Iolascon, A.
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus 1.1 Articolo in rivista 2020 Andolfo, I.; Martone, S.; Ribersani, M.; Bianchi, S.; Manna, F.; Genesio, R.; Gambale, A.; Pignataro, P.; Testi, A. M.; Iolascon, A.; Russo, R.
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA 1.1 Articolo in rivista 2020 de Bartolomeis, Andrea; Iolascon, Achille; Nitsch, Lucio; Andolfo, Immacolata; Vitiello, Giuseppina; Ciccarelli, Mariateresa; Notar Francesco, Danilo; Razzino, Eugenio; Avagliano, Camilla; Gambale, Antonella; Capasso, Mario; Pignataro, Piero; Genesio, Rita; Falco, Mariateresa; Filomena Buonaguro, Elisabetta; Matrone, Marta; Iasevoli, Felice; Barone, Annarita
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (Frontiers in Physiology, (2019), 10, 10.3389/fphys.2019.00621) 1.7 Commento, erratum, replica e simili 2020 Russo, R.; Marra, R.; Andolfo, I.; De Rosa, G.; Rosato, B. E.; Manna, F.; Gambale, A.; Raia, M.; Unal, S.; Barella, S.; Iolascon, A.
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito 1.1 Articolo in rivista 2021 Iafusco, F.; Meola, S.; Lombardo, B.; Gambale, A.; Alderisio, A.; Genovese, S.; Iolascon, A.; Pastore, L.; Tinto, N.
Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 1.1 Articolo in rivista 2021 Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta; Barcellini, Wilma; Fermo, Elisa; Toldi, Gergely; Ghirardello, Stefano; Rees, Davis; Van Wijk, Richard; Kattamis, Antonis; Gallagher, Patrick G; Roy, Noemi; Taher, Ali; Mohty, Razan; Kulozik, Andreas; De Franceschi, Lucia; Gambale, Antonella; De Montalembert, Mariane; Forni, Gian Luca; Harteveld, Cornelis L; Prchal, Josef; Bianchi, Paola