Search Results - Ursini, Matilde Valeria

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  1. 1
    The LCR at the IKBKG Locus Is Prone to Recombine

    The LCR at the IKBKG Locus Is Prone to Recombine by Fusco, Francesca, D'Urso, Michele, Miano, Maria Giuseppina, Ursini, Matilde Valeria

    Published 2010
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  2. 2
    NEMO regulates a cell death switch in TNF signaling by inhibiting recruitment of RIPK3 to the cell death-inducing complex II

    NEMO regulates a cell death switch in TNF signaling by inhibiting recruitment of RIPK3 to the cell death-inducing complex II by Pescatore, Alessandra, Esposito, Elio, Draber, Peter, Walczak, Henning, Ursini, Matilde Valeria

    Published 2016
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  3. 3
    Functional Characterization of Wiskott-Aldrich Syndrome Protein and Scar Homolog (WASH), a Bi-modular Nucleation-promoting Factor Able to Interact with Biogenesis of Lysosome-related Organelle Subunit 2 (BLOS2) and γ-Tubulin

    Functional Characterization of Wiskott-Aldrich Syndrome Protein and Scar Homolog (WASH), a Bi-modular Nucleation-promoting Factor Able to Interact with Biogenesis of Lysosome-relat... by Monfregola, Jlenia, Napolitano, Gennaro, D'Urso, Michele, Lappalainen, Pekka, Ursini, Matilde Valeria

    Published 2010
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  4. 4
    Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

    Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report by Miano, Maria Giuseppina, Laperuta, Carmela, Chiurazzi, Pietro, D'Urso, Michele, Ursini, Matilde Valeria

    Published 2007
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  5. 5
    Clinical Utility Gene Card for: incontinentia pigmenti

    Clinical Utility Gene Card for: incontinentia pigmenti by Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Royer, Ghislaine, Bonnefont, Jean-Paul, Ursini, Matilde Valeria

    Published 2013
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  6. 6
    The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide

    The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide by Fusco, Francesca, Valente, Valeria, Fergola, Dario, Pescatore, Alessandra, Lioi, Maria Brigida, Ursini, Matilde Valeria

    Published 2019
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  7. 7
    Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male

    Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male by Pescatore, Alessandra, Spinosa, Ezia, Casale, Carmela, Lioi, Maria Brigida, Ursini, Matilde Valeria, Fusco, Francesca

    Published 2022
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  8. 8
    Life, death, and autophagy in cancer: NF-κB turns up everywhere

    Life, death, and autophagy in cancer: NF-κB turns up everywhere by Verzella, Daniela, Pescatore, Alessandra, Capece, Daria, Vecchiotti, Davide, Ursini, Matilde Valeria, Franzoso, Guido, Alesse, Edoardo, Zazzeroni, Francesca

    Published 2020
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  9. 9
    Clinical utility gene card: for incontinentia pigmenti

    Clinical utility gene card: for incontinentia pigmenti by Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Bonnefont, Jean-Paul, De Oliveira, Judite, Lioi, Maria Brigida, Ursini, Matilde Valeria

    Published 2019
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  10. 10
    Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels

    Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels by Palamaro, Loredana, Giardino, Giuliana, Santamaria, Francesca, Romano, Rosa, Fusco, Anna, Montella, Silvia, Salerno, Mariacarolina, Ursini, Matilde Valeria, Pignata, Claudio

    Published 2012
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  11. 11
    Incontinentia pigmenti: report on data from 2000 to 2013

    Incontinentia pigmenti: report on data from 2000 to 2013 by Fusco, Francesca, Paciolla, Mariateresa, Conte, Matilde Immacolata, Pescatore, Alessandra, Esposito, Elio, Mirabelli, Peppino, Lioi, Maria Brigida, Ursini, Matilde Valeria

    Published 2014
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  12. 12
    Rare Mendelian Primary Immunodeficiency diseases associated to impaired NF-κB signaling

    Rare Mendelian Primary Immunodeficiency diseases associated to impaired NF-κB signaling by Paciolla, Mariateresa, Pescatore, Alessandra, Conte, Matilde Immacolata, Esposito, Elio, Incoronato, Mariarosaria, Lioi, Maria Brigida, Fusco, Francesca, Ursini, Matilde Valeria

    Published 2015
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  13. 13
    Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease

    Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease by Pizzamiglio, Maria Rosa, Piccardi, Laura, Bianchini, Filippo, Canzano, Loredana, Palermo, Liana, Fusco, Francesca, D'Antuono, Giovanni, Gelmini, Chiara, Garavelli, Livia, Ursini, Matilde Valeria

    Published 2014
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  14. 14
    Hyper IgM syndrome presenting as chronic suppurative lung disease

    Hyper IgM syndrome presenting as chronic suppurative lung disease by Montella, Silvia, Maglione, Marco, Giardino, Giuliana, Di Giorgio, Angela, Palamaro, Loredana, Mirra, Virginia, Ursini, Matilde Valeria, Salerno, Mariacarolina, Pignata, Claudio, Caffarelli, Carlo, Santamaria, Francesca

    Published 2012
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  15. 15
    The R156H variation in IL-12Rβ1 is not a mutation

    The R156H variation in IL-12Rβ1 is not a mutation by van de Vosse, Esther, van Dissel, Jaap T, Palamaro, Loredana, Giardino, Giuliana, Santamaria, Francesca, Romano, Rosa, Fusco, Anna, Montella, Silvia, Salerno, Mariacarolina, Ursini, Matilde Valeria, Pignata, Claudio

    Published 2013
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  16. 16
    Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells

    Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells by Cuomo, Francesca, Coppola, Antonietta, Botti, Chiara, Maione, Ciro, Forte, Amalia, Scisciola, Lucia, Liguori, Giuseppina, Caiafa, Ilaria, Ursini, Matilde Valeria, Galderisi, Umberto, Cipollaro, Marilena, Altucci, Lucia, Cobellis, Gilda

    Published 2018
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  17. 17
    Author Correction: Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells

    Author Correction: Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells by Cuomo, Francesca, Coppola, Antonietta, Botti, Chiara, Maione, Ciro, Forte, Amalia, Scisciola, Lucia, Liguori, Giuseppina, Caiafa, Ilaria, Ursini, Matilde Valeria, Galderisi, Umberto, Cipollaro, Marilena, Altucci, Lucia, Cobellis, Gilda

    Published 2020
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  18. 18
    MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

    MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions by Laperuta, Carmela, Spizzichino, Letizia, D'Adamo, Pio, Monfregola, Jlenia, Maiorino, Antonio, D'Eustacchio, Angela, Ventruto, Valerio, Neri, Giovanni, D'Urso, Michele, Chiurazzi, Pietro, Ursini, Matilde Valeria, Miano, Maria Giuseppina

    Published 2007
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  19. 19
    A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX

    A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX by Poeta, Loredana, Fusco, Francesca, Drongitis, Denise, Shoubridge, Cheryl, Manganelli, Genesia, Filosa, Stefania, Paciolla, Mariateresa, Courtney, Monica, Collombat, Patrick, Lioi, Maria Brigida, Gecz, Jozef, Ursini, Matilde Valeria, Miano, Maria Giuseppina

    Published 2013
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  20. 20
    Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Autoantibodies against type I IFNs in patients with life-threatening COVID-19 by Bastard, Paul, Rosen, Lindsey B., Zhang, Qian, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Zhang, Yu, Dorgham, Karim, Philippot, Quentin, Rosain, Jérémie, Béziat, Vivien, Manry, Jérémy, Shaw, Elana, Haljasmägi, Liis, Peterson, Pärt, Lorenzo, Lazaro, Bizien, Lucy, Trouillet-Assant, Sophie, Dobbs, Kerry, de Jesus, Adriana Almeida, Belot, Alexandre, Kallaste, Anne, Catherinot, Emilie, Tandjaoui-Lambiotte, Yacine, Le Pen, Jeremie, Kerner, Gaspard, Bigio, Benedetta, Seeleuthner, Yoann, Yang, Rui, Bolze, Alexandre, Spaan, András N., Delmonte, Ottavia M., Abers, Michael S., Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Piemonti, Lorenzo, Ciceri, Fabio, Bilguvar, Kaya, Lifton, Richard P., Vasse, Marc, Smadja, David M., Migaud, Mélanie, Hadjadj, Jérome, Terrier, Benjamin, Duffy, Darragh, Quintana-Murci, Lluis, van de Beek, Diederik, Roussel, Lucie, Vinh, Donald C., Tangye, Stuart G., Haerynck, Filomeen, Dalmau, David, Martinez-Picado, Javier, Brodin, Petter, Nussenzweig, Michel C., Boisson-Dupuis, Stéphanie, Rodríguez-Gallego, Carlos, Vogt, Guillaume, Mogensen, Trine H., Oler, Andrew J., Gu, Jingwen, Burbelo, Peter D., Cohen, Jeffrey I., Biondi, Andrea, Bettini, Laura Rachele, D'Angio, Mariella, Bonfanti, Paolo, Rossignol, Patrick, Mayaux, Julien, Rieux-Laucat, Frédéric, Husebye, Eystein S., Fusco, Francesca, Ursini, Matilde Valeria, Imberti, Luisa, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Duval, Xavier, Ghosn, Jade, Tsang, John S., Goldbach-Mansky, Raphaela, Kisand, Kai, Lionakis, Michail S., Puel, Anne, Zhang, Shen-Ying, Holland, Steven M., Gorochov, Guy, Jouanguy, Emmanuelle, Rice, Charles M., Cobat, Aurélie, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Casanova, Jean-Laurent

    Published 2020
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