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Page 1
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G, Esteve-Solé A, Piquer M, González-Navarro EA, Hernandez-Rodriguez J, Laayouni H, González-Roca E, Plaza-Martin AM, Deyà-Martínez Á, Martín-Nalda A, Martínez-Gallo M, García-Prat M, Del Pino-Molina L, Cuscó I, Codina-Solà M, Batlle-Masó L, Solís-Moruno M, Marquès-Bonet T, Bosch E, López-Granados E, Aróstegui JI, Soler-Palacín P, Colobran R, Yagüe J, Alsina L, Juan M, Casals F. de Valles-Ibáñez G, et al. Front Immunol. 2018 May 14;9:636. doi: 10.3389/fimmu.2018.00636. eCollection 2018. Front Immunol. 2018. PMID: 29867916 Free PMC article.
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
Alsina L, González-Roca E, Giner MT, Piquer M, Puga I, Pascal M, Ruiz-Ortiz E, Badell I, Martín-Mateos MA, Cerutti A, Juan M, Yagüe J, Plaza AM, Aróstegui JI. Alsina L, et al. J Allergy Clin Immunol. 2013 Sep;132(3):741-743.e2. doi: 10.1016/j.jaci.2013.03.038. Epub 2013 May 15. J Allergy Clin Immunol. 2013. PMID: 23683512 No abstract available.
CIAS1 and NOD2 genes in adult-onset Still's disease.
Garcia-Melchor E, Grados D, González-Roca E, Arostegui JI, Yague J, Narváez FJ, Olive A. Garcia-Melchor E, et al. J Rheumatol. 2014 Jul;41(7):1566-7. doi: 10.3899/jrheum.131563. J Rheumatol. 2014. PMID: 24986970 No abstract available.
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.
30 results