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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: goncalo marques j. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Description of macrolide-resistant and potential virulent clones of Streptococcus pyogenes causing asymptomatic colonization during 2000-2006 in the Lisbon area.
Pires R, Rolo D, Morais A, Brito-Avô A, Johansson C, Henriques-Normark B, Gonçalo-Marques J, Santos-Sanches I. Pires R, et al. Among authors: goncalo marques j. Eur J Clin Microbiol Infect Dis. 2012 May;31(5):849-57. doi: 10.1007/s10096-011-1384-x. Epub 2011 Oct 21. Eur J Clin Microbiol Infect Dis. 2012. PMID: 22012657
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernández-Pérez L, Chapgier A, Cárdenes M, Feinberg J, García-Laorden MI, Picard C, Santiago E, Kong X, Jannière L, Colino E, Herrera-Ramos E, Francés A, Navarrete C, Blanche S, Faria E, Remiszewski P, Cordeiro A, Freeman A, Holland S, Abarca K, Valerón-Lemaur M, Gonçalo-Marques J, Silveira L, García-Castellano JM, Caminero J, Pérez-Arellano JL, Bustamante J, Abel L, Casanova JL, Rodríguez-Gallego C. Sologuren I, et al. Among authors: goncalo marques j. Hum Mol Genet. 2011 Apr 15;20(8):1509-23. doi: 10.1093/hmg/ddr029. Epub 2011 Jan 25. Hum Mol Genet. 2011. PMID: 21266457 Free PMC article.
Resistance to bacitracin in Streptococcus pyogenes from oropharyngeal colonization and noninvasive infections in Portugal was caused by two clones of distinct virulence genotypes.
Pires R, Rolo D, Mato R, Feio de Almeida J, Johansson C, Henriques-Normark B, Morais A, Brito-Avô A, Gonçalo-Marques J, Santos-Sanches I. Pires R, et al. Among authors: goncalo marques j. FEMS Microbiol Lett. 2009 Jun;296(2):235-40. doi: 10.1111/j.1574-6968.2009.01642.x. Epub 2009 May 6. FEMS Microbiol Lett. 2009. PMID: 19486163