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Page 1
Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.
Recio MJ, Dominguez-Pinilla N, Perrig MS, Rodriguez Vigil-Iturrate C, Salmón-Rodriguez N, Martinez Faci C, Castro-Panete MJ, Blas-Espada J, López-Nevado M, Ruiz-Garcia R, Chaparro-García R, Allende LM, Gonzalez-Granado LI. Recio MJ, et al. Front Immunol. 2019 Jan 7;9:2959. doi: 10.3389/fimmu.2018.02959. eCollection 2018. Front Immunol. 2019. PMID: 30666249 Free PMC article.
Clinical and Immunological Features of Human BCL10 Deficiency.
Garcia-Solis B, Van Den Rym A, Pérez-Caraballo JJ, Al-Ayoubi A, Alazami AM, Lorenzo L, Cubillos-Zapata C, López-Collazo E, Pérez-Martínez A, Allende LM, Markle J, Fernández-Arquero M, Sánchez-Ramón S, Recio MJ, Casanova JL, Mohammed R, Martinez-Barricarte R, Pérez de Diego R. Garcia-Solis B, et al. Among authors: recio mj. Front Immunol. 2021 Nov 12;12:786572. doi: 10.3389/fimmu.2021.786572. eCollection 2021. Front Immunol. 2021. PMID: 34868072 Free PMC article.
Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression.
Muñoz-Ruiz M, Pérez-Flores V, Garcillán B, Guardo AC, Mazariegos MS, Takada H, Allende LM, Kilic SS, Sanal O, Roifman CM, López-Granados E, Recio MJ, Martínez-Naves E, Fernández-Malavé E, Regueiro JR. Muñoz-Ruiz M, et al. Among authors: recio mj. BMC Immunol. 2013 Jan 21;14:3. doi: 10.1186/1471-2172-14-3. BMC Immunol. 2013. PMID: 23336327 Free PMC article.
Possible role of Artemis c.512C>G polymorphic variant in Omenn syndrome.
Mancebo E, Recio MJ, Martínez-Busto E, González-Granado LI, Rojo P, Fernández-Díaz E, Ruiz-Contreras J, Paz-Artal E, Allende LM. Mancebo E, et al. Among authors: recio mj. DNA Repair (Amst). 2011 Jan 2;10(1):3-4. doi: 10.1016/j.dnarep.2010.09.022. Epub 2010 Oct 27. DNA Repair (Amst). 2011. PMID: 21030322 No abstract available.
Measurement of Typhim Vi IgG as a Diagnostic Tool to Determine Anti-polysaccharide Antibody Production Deficiency in Children.
Guevara-Hoyer K, Gil C, Parker AR, Williams LJ, Orte C, Rodriguez de la Peña A, Ochoa-Grullón J, Rodriguez De Frias E, García IS, García-Gómez S, Recio MJ, Fernández-Arquero M, Pérez de Diego R, Ramos JT, Sánchez-Ramón S. Guevara-Hoyer K, et al. Among authors: recio mj. Front Immunol. 2019 Apr 2;10:654. doi: 10.3389/fimmu.2019.00654. eCollection 2019. Front Immunol. 2019. PMID: 31001267 Free PMC article. Clinical Trial.
Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, Perez de Diego R. Van Den Rym A, et al. Among authors: recio mj. J Clin Immunol. 2020 Feb;40(2):388-398. doi: 10.1007/s10875-020-00760-3. Epub 2020 Feb 1. J Clin Immunol. 2020. PMID: 32008135
Variable immunodeficiency study: Evaluation of two European cohorts within a variety of clinical phenotypes.
Guevara-Hoyer K, Vasconcelos J, Marques L, Fernandes AA, Ochoa-Grullón J, Marinho A, Sequeira T, Gil C, Rodríguez de la Peña A, Serrano García I, Recio MJ, Fernández-Arquero M, Pérez de Diego R, Ramos JT, Neves E, Sánchez-Ramón S. Guevara-Hoyer K, et al. Among authors: recio mj. Immunol Lett. 2020 Jul;223:78-88. doi: 10.1016/j.imlet.2020.03.006. Epub 2020 Apr 25. Immunol Lett. 2020. PMID: 32344018
Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency.
García-Gómez S, Chaparro R, Safa A, Van Den Rym A, Martinez-Barricarte R, Lorenzo L, Sánchez-Ramón S, Toledano V, Cubillos-Zapata C, López-Collazo E, Martín-Arranz MD, Martín-Arranz E, Vela M, Gonzalez-Navarro P, Pérez-Martínez A, Casanova JL, Recio MJ, Pérez de Diego R. García-Gómez S, et al. Among authors: recio mj. J Allergy Clin Immunol. 2019 May;143(5):1931-1934.e1. doi: 10.1016/j.jaci.2018.12.1000. Epub 2019 Jan 18. J Allergy Clin Immunol. 2019. PMID: 30660642 No abstract available.
31 results