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A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027.
Clin Chem. 2024.
PMID: 38531023
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.
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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.
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How a pediatric neuro-oncology unit was managed in Madrid during the first wave of the COVID-19 pandemic.
Vila R, Vázquez-Gómez F, Fioravantti V, García-Fernandez M, Lassaletta A.
Vila R, et al. Among authors: vazquez gomez f.
Tumori. 2022 Dec;108(6):552-555. doi: 10.1177/03008916211048234. Epub 2021 Sep 22.
Tumori. 2022.
PMID: 34550029
Free PMC article.
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[Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child].
Vázquez Gómez F, Díaz Ruiz L, Bergón Sendín E, Barceló Mendiguchía A, Tejada Palacios P.
Vázquez Gómez F, et al.
Arch Argent Pediatr. 2019 Jun 1;117(3):e252-e256. doi: 10.5546/aap.2019.e252.
Arch Argent Pediatr. 2019.
PMID: 31063312
Free article.
Spanish.
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[Safety and efficacy of the use of eltrombopag in a case of severe acquired bone marrow aplasia].
Rubio-San-Simón A, Lázaro Rodríguez I, Vázquez Gómez F, Vivanco Martínez JL, Pérez Alonso V.
Rubio-San-Simón A, et al. Among authors: vazquez gomez f.
An Pediatr (Engl Ed). 2019 Apr;90(4):246-247. doi: 10.1016/j.anpedi.2018.04.011. Epub 2018 May 22.
An Pediatr (Engl Ed). 2019.
PMID: 29798814
Free article.
Spanish.
No abstract available.
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[Rituximab therapy for refractory thrombocytopenia in patients with antiphospholipid antibodies].
Vázquez Gómez F, Prieto Arce M, González-Granado LI, Enríquez Merayo E, de Inocencio Arocena J.
Vázquez Gómez F, et al.
An Pediatr (Barc). 2017 Jul;87(1):51-53. doi: 10.1016/j.anpedi.2016.09.007. Epub 2016 Oct 21.
An Pediatr (Barc). 2017.
PMID: 27777023
Free article.
Spanish.
No abstract available.
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