Works matching AU Iolascon, Achille

Results: 160
    1

    Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies.

    Published in:
    Human Mutation, 2014, v. 35, n. 11, p. 1321, doi. 10.1002/humu.22632
    By:
    • Falco, Luigia;
    • Silvestri, Laura;
    • Kannengiesser, Caroline;
    • Morán, Erica;
    • Oudin, Claire;
    • Rausa, Marco;
    • Bruno, Mariasole;
    • Aranda, Jessica;
    • Argiles, Bienvenida;
    • Yenicesu, Idil;
    • Falcon‐Rodriguez, Maria;
    • Yilmaz‐Keskin, Ebru;
    • Kocak, Ulker;
    • Beaumont, Carole;
    • Camaschella, Clara;
    • Iolascon, Achille;
    • Grandchamp, Bernard;
    • Sanchez, Mayka
    Publication type:
    Article
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    Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

    Published in:
    Human Mutation, 2010, v. 31, n. 5, p. E1390, doi. 10.1002/humu.21243
    By:
    • De Falco, Luigia;
    • Totaro, Francesca;
    • Nai, Antonella;
    • Pagani, Alessia;
    • Girelli, Domenico;
    • Silvestri, Laura;
    • Piscopo, Carmelo;
    • Campostrini, Natascia;
    • Dufour, Carlo;
    • Manjomi, Fahd AL;
    • Minkov, Milen;
    • Van Vuurden, Dennis G.;
    • Feliu, Aurora;
    • Kattamis, Antonis;
    • Camaschella, Clara;
    • Iolascon, Achille
    Publication type:
    Article
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    Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

    Published in:
    Human Mutation, 2008, v. 29, n. 3, p. 409, doi. 10.1002/humu.20661
    By:
    • Pecci, Alessandro;
    • Panza, Emanuele;
    • Pujol-Moix, Núria;
    • Klersy, Catherine;
    • Di Bari, Filomena;
    • Bozzi, Valeria;
    • Gresele, Paolo;
    • Lethagen, Stefan;
    • Fabris, Fabrizio;
    • Dufour, Carlo;
    • Granata, Antonio;
    • Doubek, Michael;
    • Pecoraro, Carmine;
    • Koivisto, Pasi A.;
    • Heller, Paula G.;
    • Iolascon, Achille;
    • Alvisi, Patrizia;
    • Schwabe, Dirk;
    • De Candia, Erica;
    • Rocca, Bianca
    Publication type:
    Article
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    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
    By:
    • Russo, Roberta;
    • Andolfo, Immacolata;
    • Lasorsa, Vito Alessandro;
    • Cantalupo, Sueva;
    • Marra, Roberta;
    • Frisso, Giulia;
    • Abete, Pasquale;
    • Cassese, Gian Marco;
    • Servillo, Giuseppe;
    • Esposito, Gabriella;
    • Gentile, Ivan;
    • Piscopo, Carmelo;
    • Della Monica, Matteo;
    • Fiorentino, Giuseppe;
    • Russo, Giuseppe;
    • Cerino, Pellegrino;
    • Buonerba, Carlo;
    • Pierri, Biancamaria;
    • Zollo, Massimo;
    • Iolascon, Achille
    Publication type:
    Article
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    A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.

    Published in:
    European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1073, doi. 10.1038/sj.ejhg.5201280
    By:
    • Carella, Massimo;
    • d'Adamo, Adamo Pio;
    • Grootenboer-Mignot, Sabine;
    • Vantyghem, Marie C.;
    • Esposito, Laura;
    • D'Eustacchio, Angela;
    • Ficarella, Romina;
    • Stewart, Gordon W;
    • Gasparini, Paolo;
    • Delaunay, Jean;
    • Iolascon, Achille
    Publication type:
    Article
    15

    Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1126, doi. 10.1038/ng.2387
    By:
    • Diskin, Sharon J;
    • Capasso, Mario;
    • Schnepp, Robert W;
    • Cole, Kristina A;
    • Attiyeh, Edward F;
    • Hou, Cuiping;
    • Diamond, Maura;
    • Carpenter, Erica L;
    • Winter, Cynthia;
    • Lee, Hanna;
    • Jagannathan, Jayanti;
    • Latorre, Valeria;
    • Iolascon, Achille;
    • Hakonarson, Hakon;
    • Devoto, Marcella;
    • Maris, John M
    Publication type:
    Article
    16

    Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

    Published in:
    Nature Genetics, 2009, v. 41, n. 8, p. 936, doi. 10.1038/ng.405
    By:
    • Schwarz, Klaus;
    • Iolascon, Achille;
    • Verissimo, Fatima;
    • Trede, Nikolaus S.;
    • Horsley, Wyatt;
    • Wen Chen;
    • Paw, Barry H.;
    • Hopfner, Karl-Peter;
    • Holzmann, Karlheinz;
    • Russo, Roberta;
    • Esposito, Maria Rosaria;
    • Spano, Daniela;
    • De Falco, Luigia;
    • Heinrich, Katja;
    • Joggerst, Brigitte;
    • Rojewski, Markus T.;
    • Perrotta, Silverio;
    • Denecke, Jonas;
    • Pannicke, Ulrich;
    • Delaunay, Jean
    Publication type:
    Article
    17

    Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1258, doi. 10.1038/ng1656
    By:
    • Bruce, Lesley J.;
    • C. Robinson, Hannah;
    • Guizouarn, Hélène;
    • Borgese, Franck;
    • Harrison, Penny;
    • King, May-Jean;
    • Goede, Jeroen S.;
    • Coles, Suzanne E.;
    • Gore, Daniel M.;
    • Lutz, Hans U.;
    • Ficarella, Romina;
    • Layton, D. Mark;
    • Iolascon, Achille;
    • Ellory, J. Clive;
    • Stewart, Gordon W.
    Publication type:
    Article
    18

    P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13314, doi. 10.3390/ijms252413314
    By:
    • Santoro, Antonella;
    • De Santis, Silvia;
    • Palmieri, Ferdinando;
    • Vozza, Angelo;
    • Agrimi, Gennaro;
    • Andolfo, Immacolata;
    • Russo, Roberta;
    • Palazzo, Antonio;
    • Storlazzi, Clelia Tiziana;
    • Ferrucci, Arianna;
    • Jun, Yong Woong;
    • Kool, Eric T.;
    • Fiermonte, Giuseppe;
    • Iolascon, Achille;
    • Paradies, Eleonora;
    • Marobbio, Carlo Marya Thomas;
    • Palmieri, Luigi
    Publication type:
    Article
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    Peculiar allelotype associated with susceptibility to neuroblastoma.

    Published in:
    Genes, Chromosomes & Cancer, 1996, v. 17, n. 1, p. 60, doi. 10.1002/(SICI)1098-2264(199609)17:1<60::AID-GCC9>3.0.CO;2-0
    By:
    • Perri, Patrizia;
    • Pession, Annalisa;
    • Mazzocco, Katia;
    • Strigini, Paolo;
    • Iolascon, Achille;
    • Basso, Giuseppe;
    • Tonini, Gian Paolo
    Publication type:
    Article
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    Congenital dyserythropoietic anaemias: new acquisitions.

    Published in:
    Blood Transfusion (17232007), 2011, v. 9, n. 3, p. 278, doi. 10.2450/2010.0085-10
    By:
    • Iolascon, Achille;
    • Russo, Roberta;
    • Esposito, Maria Rosaria;
    • Piscopo, Carmelo;
    • Asci, Roberta;
    • De Falco, Luigia;
    • Di Noce, Francesca
    Publication type:
    Article
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    MiR-34a Targeting of Notch Ligand Delta-Like 1 Impairs CD15<sup>+</sup>/CD133<sup>+</sup> Tumor-Propagating Cells and Supports Neural Differentiation in Medulloblastoma.

    Published in:
    PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024584
    By:
    • de Antonellis, Pasqualino;
    • Medaglia, Chiara;
    • Cusanelli, Emilio;
    • Andolfo, Immacolata;
    • Liguori, Lucia;
    • De Vita, Gennaro;
    • Carotenuto, Marianeve;
    • Bello, Annamaria;
    • Formiggini, Fabio;
    • Galeone, Aldo;
    • De Rosa, Giuseppe;
    • Virgilio, Antonella;
    • Scognamiglio, Immacolata;
    • Sciro, Manuela;
    • Basso, Giuseppe;
    • Schulte, Johannes H.;
    • Cinalli, Giuseppe;
    • Iolascon, Achille;
    • Zollo, Massimo
    Publication type:
    Article
    36

    MicroRNA-199b-5p Impairs Cancer Stem Cells through Negative Regulation of HES1 in Medulloblastoma.

    Published in:
    PLoS ONE, 2009, v. 4, n. 3, p. 1, doi. 10.1371/journal.pone.0004998
    By:
    • Garzia, Livia;
    • Andolfo, Immacolata;
    • Cusanelli, Emilio;
    • Marino, Natascia;
    • Petrosino, Giuseppe;
    • De Martino, Daniela;
    • Esposito, Veronica;
    • Galeone, Aldo;
    • Navas, Luigi;
    • Esposito, Silvia;
    • Gargiulo, Sara;
    • Fattet, Sarah;
    • Donofrio, Vittoria;
    • Cinalli, Giuseppe;
    • Brunetti, Arturo;
    • Del Vecchio, Luigi;
    • Northcott, Paul A.;
    • Delattre, Olivier;
    • Taylor, Michael D.;
    • Iolascon, Achille
    Publication type:
    Article
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    Rare Variants in TP53 and Susceptibility to Neuroblastoma.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2014, v. 106, n. 4, p. 1, doi. 10.1093/jnci/dju047
    By:
    • Diskin, Sharon J.;
    • Capasso, Mario;
    • Diamond, Maura;
    • Oldridge, Derek A.;
    • Conkrite, Karina;
    • Bosse, Kristopher R.;
    • Russell, Mike R.;
    • Iolascon, Achille;
    • Hakonarson, Hakon;
    • Devoto, Marcella;
    • Maris, John M.
    Publication type:
    Article
    45

    Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.

    Published in:
    Acta Neuropathologica Communications, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40478-025-01997-y
    By:
    • Riccardi, Veronica;
    • Viscomi, Carlo Fiore;
    • Sandri, Marco;
    • D'Alessandro, Angelo;
    • Dzieciatkowska, Monika;
    • Stephenson, Daniel;
    • Federti, Enrica;
    • Hermann, Andreas;
    • Salviati, Leonardo;
    • Siciliano, Angela;
    • Andolfo, Immacolata;
    • Alper, Seth L.;
    • Ceolan, Jacopo;
    • Iolascon, Achille;
    • Vattemi, Gaetano;
    • Danek, Adrian;
    • Walker, Ruth H.;
    • Mensch, Alexander;
    • Otto, Markus;
    • Deschauer, Marcus
    Publication type:
    Article
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