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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.
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: dominguez pinilla n. 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.
Autoantibodies against type I IFNs in patients with critical influenza pneumonia.
Zhang Q, Pizzorno A, Miorin L, Bastard P, Gervais A, Le Voyer T, Bizien L, Manry J, Rosain J, Philippot Q, Goavec K, Padey B, Cupic A, Laurent E, Saker K, Vanker M, Särekannu K; COVID Human Genetic Effort; Etablissement Français du Sang Study Group; Constances Cohort; 3C-Dijon Study; Cerba HealthCare Group; Lyon Antigrippe Working Group; REIPI INF Working Group; García-Salum T, Ferres M, Le Corre N, Sánchez-Céspedes J, Balsera-Manzanero M, Carratala J, Retamar-Gentil P, Abelenda-Alonso G, Valiente A, Tiberghien P, Zins M, Debette S, Meyts I, Haerynck F, Castagnoli R, Notarangelo LD, Gonzalez-Granado LI, Dominguez-Pinilla N, Andreakos E, Triantafyllia V, Rodríguez-Gallego C, Solé-Violán J, Ruiz-Hernandez JJ, Rodríguez de Castro F, Ferreres J, Briones M, Wauters J, Vanderbeke L, Feys S, Kuo CY, Lei WT, Ku CL, Tal G, Etzioni A, Hanna S, Fournet T, Casalegno JS, Queromes G, Argaud L, Javouhey E, Rosa-Calatrava M, Cordero E, Aydillo T, Medina RA, Kisand K, Puel A, Jouanguy E, Abel L, Cobat A, Trouillet-Assant S, García-Sastre A, Casanova JL. Zhang Q, et al. Among authors: dominguez pinilla n. J Exp Med. 2022 Nov 7;219(11):e20220514. doi: 10.1084/jem.20220514. Epub 2022 Sep 16. J Exp Med. 2022. PMID: 36112363 Free PMC article.
Incidence and management of patients with methotrexate delayed elimination in the clinical practice: A Delphi study.
Gros L, Roldán A, Cabero-Martínez A, Domínguez-Pinilla N, de la Fuente A, González-Barca E, Tasso M, Torrent M, Gallardo E, Del Cerro I, Giró-Perafita A, Badia X. Gros L, et al. Among authors: dominguez pinilla n. J Oncol Pharm Pract. 2023 Jun;29(4):794-801. doi: 10.1177/10781552221079568. Epub 2022 Feb 11. J Oncol Pharm Pract. 2023. PMID: 35147457 Free PMC article.
Global characteristics and outcomes of SARS-CoV-2 infection in children and adolescents with cancer (GRCCC): a cohort study.
Mukkada S, Bhakta N, Chantada GL, Chen Y, Vedaraju Y, Faughnan L, Homsi MR, Muniz-Talavera H, Ranadive R, Metzger M, Friedrich P, Agulnik A, Jeha S, Lam C, Dalvi R, Hessissen L, Moreira DC, Santana VM, Sullivan M, Bouffet E, Caniza MA, Devidas M, Pritchard-Jones K, Rodriguez-Galindo C; Global Registry of COVID-19 in Childhood Cancer. Mukkada S, et al. Lancet Oncol. 2021 Oct;22(10):1416-1426. doi: 10.1016/S1470-2045(21)00454-X. Epub 2021 Aug 26. Lancet Oncol. 2021. PMID: 34454651 Free PMC article.
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM. López-Nevado M, et al. Among authors: dominguez pinilla n. Front Immunol. 2021 Aug 10;12:671755. doi: 10.3389/fimmu.2021.671755. eCollection 2021. Front Immunol. 2021. PMID: 34447369 Free PMC article.
Two Cases of SARS-CoV-2 Infection in Pediatric Oncohematologic Patients in Spain.
Pérez-Heras I, Fernandez-Escobar V, Del Pozo-Carlavilla M, Díaz-Merchán R, Valerio-Alonso ME, Domínguez-Pinilla N. Pérez-Heras I, et al. Among authors: dominguez pinilla n. Pediatr Infect Dis J. 2020 Nov;39(11):1040-1042. doi: 10.1097/INF.0000000000002841. Pediatr Infect Dis J. 2020. PMID: 32773656
Initial report on Spanish pediatric oncologic, hematologic, and post stem cell transplantation patients during SARS-CoV-2 pandemic.
Faura A, Rives S, Lassaletta Á, Sebastián E, Madero L, Huerta J, García-Morín M, Martínez AP, Sisinni L, Astigarraga I, Velasco P, Gros L, Moreno L, Carboné A, Rodríguez-Vigil C, Riesco S, Mendoza MDC, Macias EG, Trabazo M, Torrent M, Badell I, Fuster JL, Dominguez-Pinilla N, Juan Ribelles A, Pérez-Alonso V, Fernández Sanmartín M, Baragaño M, Gorostegui M, Perez-Jaume S, Fernández-Teijeiro A, Morales La Madrid A, Dapena JL. Faura A, et al. Among authors: dominguez pinilla n. Pediatr Blood Cancer. 2020 Sep;67(9):e28557. doi: 10.1002/pbc.28557. Epub 2020 Jul 16. Pediatr Blood Cancer. 2020. PMID: 32672895 Free PMC article. No abstract available.
34 results