Works matching AU Mensa, Anna

Results: 23
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    Chilblains outbreak during COVID‐19 pandemic: A Type‐I interferonopathy?

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, n. 10, p. 1, doi. 10.1111/pai.13860
    By:
    • Mensa‐Vilaró, Anna;
    • Vicente, Asunción;
    • Español‐Rego, Marta;
    • Antón, Jordi;
    • Fabregat, Virginia;
    • Fortuny, Claudia;
    • González, Europa Azucena;
    • Fumadó, Victoria;
    • González‐Roca, Eva;
    • Jou, Cristina;
    • Plaza, Susana;
    • Mosquera, Juan Manuel;
    • Yagüe, Jordi;
    • Prat, Carolina;
    • Pascal, Mariona;
    • Juan, Manel;
    • Arostegui, Juan I.;
    • Baselga, Eulalia;
    • Alsina, Laia
    Publication type:
    Article
    3

    Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

    Published in:
    Arthritis & Rheumatology, 2016, v. 68, n. 12, p. 3035, doi. 10.1002/art.39770
    By:
    • Mensa‐Vilaro, Anna;
    • Teresa Bosque, María;
    • Magri, Giuliana;
    • Honda, Yoshitaka;
    • Martínez‐Banaclocha, Helios;
    • Casorran‐Berges, Marta;
    • Sintes, Jordi;
    • González‐Roca, Eva;
    • Ruiz‐Ortiz, Estibaliz;
    • Heike, Toshio;
    • Martínez‐Garcia, Juan J.;
    • Baroja‐Mazo, Alberto;
    • Cerutti, Andrea;
    • Nishikomori, Ryuta;
    • Yagüe, Jordi;
    • Pelegrín, Pablo;
    • Delgado‐Beltran, Concha;
    • Aróstegui, Juan I.
    Publication type:
    Article
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    Hypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow‐up of vacuolization and UBA1 clonal dynamics.

    Published in:
    British Journal of Haematology, 2025, v. 206, n. 2, p. 565, doi. 10.1111/bjh.19953
    By:
    • Álamo, Jose R.;
    • Torres, Lucía Mont‐de;
    • Castaño‐Díez, Sandra;
    • Mensa‐Vilaró, Anna;
    • Mónica López‐Guerra, M.;
    • Zugasti, Ines;
    • Díaz, Johana;
    • Jiménez‐Vicente, Carlos;
    • Plaza, Susana;
    • Fabregat, Virginia;
    • de Landazuri, Iñaki Ortiz;
    • Yagüe, Jordi;
    • Espinosa, Gerard;
    • Sanmartí, Raimon;
    • Rozman, Maria;
    • Guijarro, Francesca;
    • Cortes, Albert;
    • Triguero, Ana;
    • Cardús, Aina;
    • Cuartas, Adriana
    Publication type:
    Article
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    First Description of Late‐Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.

    Published in:
    Arthritis & Rheumatology, 2022, v. 74, n. 4, p. 692, doi. 10.1002/art.41999
    By:
    • Ionescu, Daniela;
    • Peñín‐Franch, Alejandro;
    • Mensa‐Vilaró, Anna;
    • Castillo, Paola;
    • Hurtado‐Navarro, Laura;
    • Molina‐López, Cristina;
    • Romero‐Chala, Silvia;
    • Plaza, Susana;
    • Fabregat, Virginia;
    • Buján, Segundo;
    • Marques, Joana;
    • Casals, Ferran;
    • Yagüe, Jordi;
    • Oliva, Baldomero;
    • Fernández‐Pereira, Luis Miguel;
    • Pelegrín, Pablo;
    • Aróstegui, Juan I.
    Publication type:
    Article
    12

    Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

    Published in:
    Journal of Rheumatology, 2017, v. 44, n. 11, p. 1667, doi. 10.3899/jrheum.170041
    By:
    • Lasigliè, Denise;
    • Mensa-Vilaro, Anna;
    • Ferrera, Denise;
    • Caorsi, Roberta;
    • Penco, Federica;
    • Santamaria, Giuseppe;
    • Duca, Marco Di;
    • Amico, Giulia;
    • Nakagawa, Kenji;
    • Antonini, Francesca;
    • Tommasini, Alberto;
    • Consolini, Rita;
    • Insalaco, Antonella;
    • Cattalini, Marco;
    • Obici, Laura;
    • Gallizzi, Romina;
    • Santarelli, Francesca;
    • del Zotto, Genny;
    • Severino, Mariasavina;
    • Rubartelli, Anna
    Publication type:
    Article
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    ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

    Published in:
    Clinical Chemistry, 2020, v. 66, n. 4, p. 525, doi. 10.1093/clinchem/hvaa024
    By:
    • Shinar, Yael;
    • Ceccherini, Isabella;
    • Rowczenio, Dorota;
    • Aksentijevich, Ivona;
    • Arostegui, Juan;
    • Ben-Chétrit, Eldad;
    • Boursier, Guilaine;
    • Gattorno, Marco;
    • Hayrapetyan, Hasmik;
    • Hiroaki Ida;
    • Nobuo Kanazawa;
    • Lachmann, Helen J.;
    • Mensa-Vilaro, Anna;
    • Nishikomori, Ryuta;
    • Oberkanins, Christian;
    • Obici, Laura;
    • Ohara, Osamu;
    • Ozen, Seza;
    • Sarkisian, Tamara;
    • Sheils, Katie
    Publication type:
    Article
    15

    Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40874-2
    By:
    • Rabionet, Raquel;
    • Remesal, Agustín;
    • Mensa-Vilaró, Anna;
    • Murías, Sara;
    • Alcobendas, Rosa;
    • González-Roca, Eva;
    • Ruiz-Ortiz, Estibaliz;
    • Antón, Jordi;
    • Iglesias, Estibaliz;
    • Modesto, Consuelo;
    • Comas, David;
    • Puig, Anna;
    • Drechsel, Oliver;
    • Ossowski, Stephan;
    • Yagüe, Jordi;
    • Merino, Rosa;
    • Estivill, Xavier;
    • Arostegui, Juan I.
    Publication type:
    Article
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    Correction to: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

    Published in:
    2022
    By:
    • Reula, Alfonso José Tapiz i;
    • Cochino, Alexis-Virgil;
    • Martins, Andreia L.;
    • Angosto-Bazarra, Diego;
    • de Landazuri, Iñaki Ortiz;
    • Mensa-Vilaro, Anna;
    • Cabral, Marta;
    • Baroja-Mazo, Alberto;
    • Baños, María C.;
    • Lobato-Salinas, Zulema;
    • Fabregat, Virginia;
    • Plaza, Susana;
    • Yagüe, Jordi;
    • Casals, Ferran;
    • Oliva, Baldomero;
    • Figueiredo, Antonio E.;
    • Pelegrín, Pablo;
    • Aróstegui, Juan I.
    Publication type:
    Correction Notice
    19

    Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1421, doi. 10.1007/s10875-022-01298-2
    By:
    • Tapiz i Reula, Alfonso José;
    • Cochino, Alexis-Virgil;
    • Martins, Andreia L.;
    • Angosto-Bazarra, Diego;
    • de Landazuri, Iñaki Ortiz;
    • Mensa-Vilaró, Anna;
    • Cabral, Marta;
    • Baroja-Mazo, Alberto;
    • Baños, María C.;
    • Lobato-Salinas, Zulema;
    • Fabregat, Virginia;
    • Plaza, Susana;
    • Yagüe, Jordi;
    • Casals, Ferran;
    • Oliva, Baldomero;
    • Figueiredo, Antonio E.;
    • Pelegrín, Pablo;
    • Aróstegui, Juan I.
    Publication type:
    Article
    20

    Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 987, doi. 10.1007/s10875-020-00794-7
    By:
    • Martín-Nalda, Andrea;
    • Fortuny, Claudia;
    • Rey, Lourdes;
    • Bunney, Tom D.;
    • Alsina, Laia;
    • Esteve-Solé, Ana;
    • Bull, Daniel;
    • Anton, Maria Carmen;
    • Basagaña, María;
    • Casals, Ferran;
    • Deyá, Angela;
    • García-Prat, Marina;
    • Gimeno, Ramon;
    • Juan, Manel;
    • Martinez-Banaclocha, Helios;
    • Martinez-Garcia, Juan J;
    • Mensa-Vilaró, Anna;
    • Rabionet, Raquel;
    • Martin-Begue, Nieves;
    • Rudilla, Francesc
    Publication type:
    Article
    21

    Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

    Published in:
    American Journal of Hematology, 2015, v. 90, n. 12, p. E217, doi. 10.1002/ajh.24178
    By:
    • MAÑÚ-PEREIRA, MARÍA DEL MAR;
    • GONZALEZ-ROCA, EVA;
    • VAN SOLINGE, WOUTER W.;
    • LLAUDET-PLANAS, ESTHER;
    • SEVILLA, JULIÁN;
    • MONTLLOR, LAURA;
    • MENSA-VILARO, ANNA;
    • VAN AMSTEL, HANS KRISTIAN PLOOS;
    • VAN WIJK, RICHARD;
    • VIVES-CORRONS, JOANLLUIS
    Publication type:
    Article
    22

    Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

    Published in:
    Rheumatology, 2024, v. 63, n. 10, p. 2897, doi. 10.1093/rheumatology/keae201
    By:
    • Cardona, Daniela Ospina;
    • Rodriguez-Pinto, Ignasi;
    • Iosim, Sonia;
    • Bonet, Nuria;
    • Mensa-Vilaro, Anna;
    • Wong, Mei-Kay;
    • Ho, Gary;
    • Tormo, Marc;
    • Yagüe, Jordi;
    • Shon, Wonwoo;
    • Wallace, Daniel J;
    • Casals, Ferran;
    • Beck, David B;
    • Abuav, Rachel;
    • Arostegui, Juan I
    Publication type:
    Article
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