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Page 1
Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.
Tapiz I Reula AJ, Cochino AV, Martins AL, Angosto-Bazarra D, de Landazuri IO, Mensa-Vilaró A, Cabral M, Baroja-Mazo A, Baños MC, Lobato-Salinas Z, Fabregat V, Plaza S, Yagüe J, Casals F, Oliva B, Figueiredo AE, Pelegrín P, Aróstegui JI. Tapiz I Reula AJ, et al. Among authors: fabregat v. J Clin Immunol. 2022 Oct;42(7):1421-1432. doi: 10.1007/s10875-022-01298-2. Epub 2022 Jun 18. J Clin Immunol. 2022. PMID: 35716229 Free PMC article.
First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.
Ionescu D, Peñín-Franch A, Mensa-Vilaró A, Castillo P, Hurtado-Navarro L, Molina-López C, Romero-Chala S, Plaza S, Fabregat V, Buján S, Marques J, Casals F, Yagüe J, Oliva B, Fernández-Pereira LM, Pelegrín P, Aróstegui JI. Ionescu D, et al. Among authors: fabregat v. Arthritis Rheumatol. 2022 Apr;74(4):692-699. doi: 10.1002/art.41999. Epub 2022 Feb 14. Arthritis Rheumatol. 2022. PMID: 34672126
Correction to: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.
Reula AJTI, Cochino AV, Martins AL, Angosto-Bazarra D, de Landazuri IO, Mensa-Vilaro A, Cabral M, Baroja-Mazo A, Baños MC, Lobato-Salinas Z, Fabregat V, Plaza S, Yagüe J, Casals F, Oliva B, Figueiredo AE, Pelegrín P, Aróstegui JI. Reula AJTI, et al. Among authors: fabregat v. J Clin Immunol. 2022 Oct;42(7):1433. doi: 10.1007/s10875-022-01322-5. J Clin Immunol. 2022. PMID: 35802274 Free PMC article. No abstract available.
Chilblains outbreak during COVID-19 pandemic: A Type-I interferonopathy?
Mensa-Vilaró A, Vicente A, Español-Rego M, Antón J, Fabregat V, Fortuny C, González EA, Fumadó V, González-Roca E, Jou C, Plaza S, Mosquera JM, Yagüe J, Prat C, Pascal M, Juan M, Arostegui JI, Baselga E, Alsina L. Mensa-Vilaró A, et al. Among authors: fabregat v. Pediatr Allergy Immunol. 2022 Oct;33(10):e13860. doi: 10.1111/pai.13860. Pediatr Allergy Immunol. 2022. PMID: 36282139 Free PMC article. No abstract available.
Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.
Mascaro JM, Rodriguez-Pinto I, Poza G, Mensa-Vilaro A, Fernandez-Martin J, Caminal-Montero L, Espinosa G, Hernández-Rodríguez J, Diaz M, Rita-Marques J, Sanmarti R, Castañeda S, Colunga D, Coto-Hernández R, Fanlo P, Elejalde JI, Bujan S, Figueras I, Marco FM, Andrés M, Suárez S, Gonzalez-Garcia A, Fustà-Novell X, Garcia-Belando C, Granados A, Fernandez-Figueras MT, Quilis N, Orriols-Caba M, Gómez de la Torre R, Cid MC, Espígol-Frigolé G, Alvarez-Abella A, Labrador E, Rozman M, Lopez-Guerra M, Castillo P, Alamo-Moreno JR, Gonzalez-Roca E, Plaza S, Fabregat V, Lara R, Vicente-Rabaneda EF, Tejedor-Vaquero S, Magri G, Bonet N, Solis-Moruno M, Cerutti A, Fornas O, Casals F, Yagüe J, Aróstegui JI. Mascaro JM, et al. Among authors: fabregat v. Ann Rheum Dis. 2023 Dec;82(12):1594-1605. doi: 10.1136/ard-2023-224460. Epub 2023 Sep 4. Ann Rheum Dis. 2023. PMID: 37666646 Free PMC article.
Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.
Urbaneja E, Bonet N, Solis-Moruno M, Mensa-Vilaro A, de Landazuri IO, Tormo M, Lara R, Plaza S, Fabregat V, Yagüe J, Casals F, Arostegui JI. Urbaneja E, et al. Among authors: fabregat v. Front Immunol. 2024 Apr 5;15:1381447. doi: 10.3389/fimmu.2024.1381447. eCollection 2024. Front Immunol. 2024. PMID: 38646532 Free PMC article.
MspI polymorphism of the human p53 gene.
de la Calle-Martín O, Romero M, Fabregat V, Ercilla G, Vives J, Yagüe J. de la Calle-Martín O, et al. Among authors: fabregat v. Nucleic Acids Res. 1990 Aug 25;18(16):4963. Nucleic Acids Res. 1990. PMID: 1697680 Free PMC article.
AccII polymorphism of the p53 gene.
de la Calle-Martín O, Fabregat V, Romero M, Soler J, Vives J, Yagüe J. de la Calle-Martín O, et al. Among authors: fabregat v. Nucleic Acids Res. 1990 Aug 25;18(16):4963. Nucleic Acids Res. 1990. PMID: 1975679 Free PMC article.
24 results