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Page 1
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: bonet n. 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.
Genome-wide postnatal changes in immunity following fetal inflammatory response.
Costa D, Bonet N, Solé A, González de Aledo-Castillo JM, Sabidó E, Casals F, Rovira C, Nadal A, Marin JL, Cobo T, Castelo R. Costa D, et al. Among authors: bonet n. FEBS J. 2021 Apr;288(7):2311-2331. doi: 10.1111/febs.15578. Epub 2020 Oct 24. FEBS J. 2021. PMID: 33006196 Free PMC article.
A forensic population database in El Salvador: 58 STRs and 94 SNPs.
Casals F, Rasal R, Anglada R, Tormo M, Bonet N, Rivas N, Vásquez P, Calafell F. Casals F, et al. Among authors: bonet n. Forensic Sci Int Genet. 2022 Mar;57:102646. doi: 10.1016/j.fsigen.2021.102646. Epub 2021 Dec 1. Forensic Sci Int Genet. 2022. PMID: 34875492
Somatic genetic variation in healthy tissue and non-cancer diseases.
Solís-Moruno M, Batlle-Masó L, Bonet N, Aróstegui JI, Casals F. Solís-Moruno M, et al. Among authors: bonet n. Eur J Hum Genet. 2023 Jan;31(1):48-54. doi: 10.1038/s41431-022-01213-8. Epub 2022 Oct 27. Eur J Hum Genet. 2023. PMID: 36289407 Free PMC article. Review.
A transient inflammatory response contributes to oxaliplatin neurotoxicity in mice.
Calls A, Torres-Espin A, Tormo M, Martínez-Escardó L, Bonet N, Casals F, Navarro X, Yuste VJ, Udina E, Bruna J. Calls A, et al. Among authors: bonet n. Ann Clin Transl Neurol. 2022 Dec;9(12):1985-1998. doi: 10.1002/acn3.51691. Epub 2022 Nov 11. Ann Clin Transl Neurol. 2022. PMID: 36369764 Free PMC article.
Population analysis of complete mitogenomes for 334 samples from El Salvador.
Aizpurua-Iraola J, Rasal R, Prieto L, Comas D, Bonet N, Casals F, Calafell F, Vásquez P. Aizpurua-Iraola J, et al. Among authors: bonet n. Forensic Sci Int Genet. 2023 Sep;66:102906. doi: 10.1016/j.fsigen.2023.102906. Epub 2023 Jun 16. Forensic Sci Int Genet. 2023. PMID: 37364481 Free article.
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace D, Casals F, Beck DB, Abuav R, Arostegui JI. Ospina Cardona D, et al. Among authors: bonet n. Rheumatology (Oxford). 2024 Mar 29:keae201. doi: 10.1093/rheumatology/keae201. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38552317
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: bonet n. Front Immunol. 2024 Apr 5;15:1381447. doi: 10.3389/fimmu.2024.1381447. eCollection 2024. Front Immunol. 2024. PMID: 38646532 Free PMC article.
20 results