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Page 1
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. Among authors: martinez pomar n. 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.
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Deyà-Martínez A, Rivière JG, Roxo-Junior P, Ramakers J, Bloomfield M, Guisado Hernandez P, Blanco Lobo P, Abu Jamra SR, Esteve-Sole A, Kanderova V, García-García A, Lopez-Corbeto M, Martinez Pomar N, Martín-Nalda A, Alsina L, Neth O, Olbrich P. Deyà-Martínez A, et al. Among authors: martinez pomar n. J Clin Immunol. 2022 Jul;42(5):1071-1082. doi: 10.1007/s10875-022-01257-x. Epub 2022 Apr 29. J Clin Immunol. 2022. PMID: 35486339 Free PMC article. Review.
Role of TNFRSF13B variants in patients with common variable immunodeficiency.
Martínez-Pomar N, Detková D, Arostegui JI, Alvarez A, Soler-Palacín P, Vidaller A, Espanol T, Sampalo A, de Gracia J, Hernandez M, Yagüe J, Matamoros N. Martínez-Pomar N, et al. Blood. 2009 Sep 24;114(13):2846-8. doi: 10.1182/blood-2009-05-213025. Blood. 2009. PMID: 19779048 Free article. No abstract available.
Functional impact of A91V mutation of the PRF1 perforin gene.
Martínez-Pomar N, Lanio N, Romo N, Lopez-Botet M, Matamoros N. Martínez-Pomar N, et al. Hum Immunol. 2013 Jan;74(1):14-7. doi: 10.1016/j.humimm.2012.10.011. Epub 2012 Oct 13. Hum Immunol. 2013. PMID: 23073290
TACI mutation in Good's Syndrome: in search of a genetic basis.
Sáenz-Cuesta M, Martínez-Pomar N, de Gracia J, Echaniz P, Villegas E, Prada A, Otaegui D, Matamoros N, Cuadrado E. Sáenz-Cuesta M, et al. Clin Immunol. 2012 Oct;145(1):27-30. doi: 10.1016/j.clim.2012.07.014. Epub 2012 Aug 4. Clin Immunol. 2012. PMID: 22922270 No abstract available.
18 results