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143 results

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Page 1
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.
Del Pozo-Valero M, Corton M, López-Rodríguez R, Mahillo-Fernández I, Ruiz-Hornillos J, Minguez P, Villaverde C, Pérez-Tomás ME, Barreda-Sánchez M, Mancebo E; STOP_Coronavirus Study Group; Paz-Artal E, Guillén-Navarro E, Almoguera B, Ayuso C. Del Pozo-Valero M, et al. Geroscience. 2023 Feb;45(1):543-553. doi: 10.1007/s11357-022-00666-5. Epub 2022 Oct 3. Geroscience. 2023. PMID: 36184726 Free PMC article.
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). Martínez-Romero MC, et al. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. Orphanet J Rare Dis. 2019. PMID: 31796081 Free PMC article.
[Participant-funded clinical trials on rare diseases].
Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Dal-Ré R, et al. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpedi.2020.03.019. Epub 2020 Jun 1. An Pediatr (Engl Ed). 2020. PMID: 32499195 Free article. Spanish.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
Buendía-Martínez J, Barreda-Sánchez M, Rodríguez-Peña L, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Pérez-Tomás ME, Gil-Ferrer R, Avilés-Plaza F, Glover-López G, Carazo-Díaz C, Guillén-Navarro E. Buendía-Martínez J, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):106. doi: 10.1186/s13023-021-01742-3. Orphanet J Rare Dis. 2021. PMID: 33639982 Free PMC article.
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4. Sci Rep. 2021. PMID: 33972629 Free PMC article. No abstract available.
Participant-funded clinical trials on rare diseases.
Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Dal-Ré R, et al. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpede.2020.03.005. Epub 2020 Oct 10. An Pediatr (Engl Ed). 2020. PMID: 34092344 Free article.
Bioethical Concerns During the COVID-19 Pandemic: What Did Healthcare Ethics Committees and Institutions State in Spain?
Ruiz-Hornillos J, Hernández Suárez P, Marín Martínez JM, de Miguel Beriain Í, Nieves Vázquez MA, Albert M, Herrera Abián M, Pacheco-Martínez PA, Trasmontes V, Guillén-Navarro E. Ruiz-Hornillos J, et al. Front Public Health. 2021 Oct 13;9:737755. doi: 10.3389/fpubh.2021.737755. eCollection 2021. Front Public Health. 2021. PMID: 34722445 Free PMC article. Review.
Novel genes and sex differences in COVID-19 severity.
Cruz R, Diz-de Almeida S, López de Heredia M, Quintela I, Ceballos FC, Pita G, Lorenzo-Salazar JM, González-Montelongo R, Gago-Domínguez M, Sevilla Porras M, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, Diaz de Bustamante A, Domínguez-Garrido E, Luchessi AD, Eiros R, Estigarribia Sanabria GM, Carmen Fariñas M, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gil-Fournier B, Gómez-Arrue J, González Álvarez B, Gonzalez Bernaldo de Quirós F, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Liger Borja A, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Merayo Macías E, Minguez P, Moreno Cuerda V, Silbiger V… See abstract for full author list ➔ Cruz R, et al. Hum Mol Genet. 2022 Nov 10;31(22):3789-3806. doi: 10.1093/hmg/ddac132. Hum Mol Genet. 2022. PMID: 35708486 Free PMC article.
143 results