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Page 1
Remdesivir or Nirmatrelvir/Ritonavir Therapy for Omicron SARS-CoV-2 Infection in Hematological Patients and Cell Therapy Recipients.
Piñana JL, Heras I, Aiello TF, García-Cadenas I, Vazquez L, Lopez-Jimenez J, Chorão P, Aroca C, García-Vidal C, Arroyo I, Soler-Espejo E, López-Corral L, Avendaño-Pita A, Arrufat A, Garcia-Gutierrez V, Arellano E, Hernández-Medina L, González-Santillana C, Morell J, Hernández-Rivas JÁ, Rodriguez-Galvez P, Mico-Cerdá M, Guerreiro M, Campos D, Navarro D, Cedillo Á, Martino R, Solano C; Infectious Complications Subcommittee of the Spanish Hematopoietic Stem Cell Transplantation and Cell Therapy Group (GETH-TC). Piñana JL, et al. Among authors: arroyo i. Viruses. 2023 Oct 8;15(10):2066. doi: 10.3390/v15102066. Viruses. 2023. PMID: 37896843 Free PMC article.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: arroyo i. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: arroyo i. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
One-year breakthrough SARS-CoV-2 infection and correlates of protection in fully vaccinated hematological patients.
Piñana JL, Vazquez L, Calabuig M, López-Corral L, Martin-Martin G, Villalon L, Sanz-Linares G, Conesa-Garcia V, Sanchez-Salinas A, Gago B, Facal A, Risco-Gálvez I, Olave MT, Espigado I, Lopez-Jimenez J, Hernández-Rivas JÁ, Avendaño-Pita A, Arroyo I, Ferrer E, García-Cadenas I, González-Santillana C, Roldán-Pérez A, Ferrer B, Guerreiro M, Suarez-Lledó M, Camara A, Campos-Beltrán D, Navarro D, Cedillo Á, Sureda A, Solano C; Spanish Hematopoietic Stem Cell Transplantation and Cell Therapy Group (GETH-TC); Martino R. Piñana JL, et al. Among authors: arroyo i. Blood Cancer J. 2023 Jan 5;13(1):8. doi: 10.1038/s41408-022-00778-3. Blood Cancer J. 2023. PMID: 36599843 Free PMC article.
SARS-CoV-2-reactive antibody waning, booster effect and breakthrough SARS-CoV-2 infection in hematopoietic stem cell transplant and cell therapy recipients at one year after vaccination.
Piñana JL, Martino R, Vazquez L, López-Corral L, Pérez A, Chorão P, Avendaño-Pita A, Pascual MJ, Sánchez-Salinas A, Sanz-Linares G, Olave MT, Arroyo I, Tormo M, Villalon L, Conesa-Garcia V, Gago B, Terol MJ, Villalba M, Garcia-Gutierrez V, Cabero A, Hernández-Rivas JÁ, Ferrer E, García-Cadenas I, Teruel A, Navarro D, Cedillo Á, Sureda A, Solano C; Spanish Hematopoietic Stem Cell Transplantation and Cell Therapy Group (GETH-TC). Piñana JL, et al. Among authors: arroyo i. Bone Marrow Transplant. 2023 May;58(5):567-580. doi: 10.1038/s41409-023-01946-0. Epub 2023 Feb 28. Bone Marrow Transplant. 2023. PMID: 36854892 Free PMC article.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Among authors: arroyo i. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Arribas-Carreira L, Bravo-Alonso I, López-Márquez A, Alonso-Barroso E, Briso-Montiano Á, Arroyo I, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Richard E. Arribas-Carreira L, et al. Among authors: arroyo i. Stem Cell Res. 2019 Aug;39:101503. doi: 10.1016/j.scr.2019.101503. Epub 2019 Jul 16. Stem Cell Res. 2019. PMID: 31349202 Free article.
13 results