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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: gonzalez roca e. 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.
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI. Nakagawa K, et al. Ann Rheum Dis. 2015 Mar;74(3):603-10. doi: 10.1136/annrheumdis-2013-204361. Epub 2013 Dec 10. Ann Rheum Dis. 2015. PMID: 24326009 Free article.
Somatic NOD2 mosaicism in Blau syndrome.
de Inocencio J, Mensa-Vilaro A, Tejada-Palacios P, Enriquez-Merayo E, González-Roca E, Magri G, Ruiz-Ortiz E, Cerutti A, Yagüe J, Aróstegui JI. de Inocencio J, et al. J Allergy Clin Immunol. 2015 Aug;136(2):484-7.e2. doi: 10.1016/j.jaci.2014.12.1941. Epub 2015 Feb 25. J Allergy Clin Immunol. 2015. PMID: 25724124 Free PMC article. No abstract available.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Hernández-Rodríguez J, Ruíz-Ortiz E, Tomé A, Espinosa G, González-Roca E, Mensa-Vilaró A, Prieto-González S, Espígol-Frigolé G, Mensa J, Cardellach F, Grau JM, Cid MC, Yagüe J, Aróstegui JI, Cervera R. Hernández-Rodríguez J, et al. Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Epub 2015 Aug 21. Autoimmun Rev. 2016. PMID: 26299986 Review.
Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
Mensa-Vilaro A, Teresa Bosque M, Magri G, Honda Y, Martínez-Banaclocha H, Casorran-Berges M, Sintes J, González-Roca E, Ruiz-Ortiz E, Heike T, Martínez-Garcia JJ, Baroja-Mazo A, Cerutti A, Nishikomori R, Yagüe J, Pelegrín P, Delgado-Beltran C, Aróstegui JI. Mensa-Vilaro A, et al. Arthritis Rheumatol. 2016 Dec;68(12):3035-3041. doi: 10.1002/art.39770. Arthritis Rheumatol. 2016. PMID: 27273849
Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.
Bujan-Rivas S, Basagaña M, Sena F, Méndez M, Dordal MT, Gonzalez-Roca E, Ruiz-Ortiz E, Mensa-Vilaró A, Plaza S, Modesto C, Ordi-Ros J, Yagüe J, Martínez-Valle F, Aróstegui JI. Bujan-Rivas S, et al. Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):27-31. Epub 2017 Jan 9. Clin Exp Rheumatol. 2017. PMID: 28079503
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Yadira Bravo Gallego L, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI. Mensa-Vilaró A, et al. J Allergy Clin Immunol. 2019 Jan;143(1):359-368. doi: 10.1016/j.jaci.2018.09.009. Epub 2018 Sep 29. J Allergy Clin Immunol. 2019. PMID: 30273710 Free article. Clinical Trial.
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, Merino R, Estivill X, Arostegui JI. Rabionet R, et al. Among authors: gonzalez roca e. Sci Rep. 2019 Mar 14;9(1):4579. doi: 10.1038/s41598-019-40874-2. Sci Rep. 2019. PMID: 30872671 Free PMC article.
30 results