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Page 1
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, Velas… See abstract for full author list ➔ Leiding JW, et al. 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.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Among authors: vazquez gomez f. Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027. Clin Chem. 2024. PMID: 38531023
Intracranial desmoplastic small round cell tumor after childhood acute myeloid leukemia treated with metronomic oral cyclophosphamide.
Sánchez-Sierra N, Perez-Somarriba M, Vázquez-Gómez F, González-Vicent M, Cabrera-Martín MN, Lassaletta A. Sánchez-Sierra N, et al. Among authors: vazquez gomez f. Pediatr Blood Cancer. 2022 Nov;69(11):e29687. doi: 10.1002/pbc.29687. Epub 2022 Mar 26. Pediatr Blood Cancer. 2022. PMID: 35338767 No abstract available.
Long-term sequelae and quality of life after childhood-onset craniopharyngioma: Results of a Spanish multicenter study.
Pérez-Torres Lobato MR, Morell M, Solano-Páez P, Ortiz-Palacios M, Menárgez Á, Panesso M, Vázquez-Gómez F, Moreno-Carrasco J, Lassaletta Á, Santa-María V, Pavon-Mengual M, Quiroga E, García-Ariza MA, Mora-Matilla M, Garrido-Colino C, Verdú-Amoros J, Nova-Lozano C, Vieito M, Cordero-Asanza EX, Clemente M, Ramos-Albiat M, de Las Morenas-Iglesias J, Moreno L, Llort A. Pérez-Torres Lobato MR, et al. Among authors: vazquez gomez f. Pediatr Blood Cancer. 2024 Dec;71(12):e31343. doi: 10.1002/pbc.31343. Epub 2024 Oct 8. Pediatr Blood Cancer. 2024. PMID: 39380174
Continuous response despite reduced dose of trametinib as single agent in an adolescent with a relapsed disseminated pediatric low-grade glioma KIAA1549-BRAF fusion positive: a case report and review of the literature.
Castellano-Damaso S, Vazquez-Gomez F, Moreno-Carrasco JL, Arce B, Borrego P, Lassaletta A. Castellano-Damaso S, et al. Among authors: vazquez gomez f. Front Oncol. 2024 May 23;14:1381354. doi: 10.3389/fonc.2024.1381354. eCollection 2024. Front Oncol. 2024. PMID: 38846974 Free PMC article.