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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.
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.
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.
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.
Shinar Y, Tohami T, Livneh A, Schiby G, Hirshberg A, Nagar M, Goldstein I, Cohen R, Kukuy O, Shubman O, Sharabi Y, Gonzalez-Roca E, Arostegui JI, Rechavi G, Amariglio N, Salomon O. Shinar Y, et al. Orphanet J Rare Dis. 2015 Jun 30;10:86. doi: 10.1186/s13023-015-0298-6. Orphanet J Rare Dis. 2015. PMID: 26123310 Free PMC article.
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
30 results