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Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.
Collado A, Boaro MP, van der Veen S, Idrizovic A, Biemond BJ, Beneitez Pastor D, Ortuño A, Cela E, Ruiz-Llobet A, Bartolucci P, de Montalembert M, Castellani G, Biondi R, Manara R, Sanavia T, Fariselli P, Kountouris P, Kleanthous M, Alvarez F, Zazo S, Colombatti R, van Beers EJ, Mañú-Pereira MDM. Collado A, et al. Among authors: ruiz llobet a. Hemasphere. 2023 Feb 22;7(3):e844. doi: 10.1097/HS9.0000000000000844. eCollection 2023 Mar. Hemasphere. 2023. PMID: 36844183 Free PMC article. No abstract available.
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado EG, Galvez E, Planas-Cerezales L, Pintado-Berninches L, Vallespin E, Martinez P, Carrillo J, Iarriccio L, Ruiz-Llobet A, Catalá A, Badell-Serra I, Gonzalez-Granado LI, Martín-Nalda A, Martínez-Gallo M, Galera-Miñarro A, Rodríguez-Vigil C, Bastos-Oreiro M, Perez de Nanclares G, Leiro-Fernández V, Uria ML, Diaz-Heredia C, Valenzuela C, Martín S, López-Muñiz B, Lapunzina P, Sevilla J, Molina-Molina M, Perona R, Sastre L. Arias-Salgado EG, et al. Orphanet J Rare Dis. 2019 Apr 17;14(1):82. doi: 10.1186/s13023-019-1046-0. Orphanet J Rare Dis. 2019. PMID: 30995915 Free PMC article.
Update of the Spanish registry of haemoglobinopathies in children and adults.
Bardón Cancho EJ, García-Morín M, Beléndez C, Velasco P, Benéitez D, Ruiz-Llobet A, Berrueco R, Argilés B, Cervera Á, Salinas JA, Vecilla C, Gondra A, Vallés G, Murciano T, Bermúdez M, Cela E; en representación del grupo de trabajo de Eritropatología de la Sociedad Española de Hematología y Oncología Pediátricas (SEHOP). Bardón Cancho EJ, et al. Med Clin (Barc). 2020 Aug 14;155(3):95-103. doi: 10.1016/j.medcli.2019.10.011. Epub 2020 Feb 26. Med Clin (Barc). 2020. PMID: 32113697 English, Spanish.
Spuriously low pulse oximetry saturation associated with hemoglobin Sydney in a child and relatives: Identification of this unstable hemoglobin may avoid unnecessary testing and hospital admissions.
de Sevilla MF, Català A, Rives S, Berrueco R, Vidiella N, Camós M, Torrebadell M, Alonso-Saladrigues A, Mesegué M, Ruiz-Llobet A, Blanco-Álvarez A, Benéitez D. de Sevilla MF, et al. Pediatr Blood Cancer. 2017 May;64(5). doi: 10.1002/pbc.26317. Epub 2016 Nov 3. Pediatr Blood Cancer. 2017. PMID: 27808457 No abstract available.
Paediatric patients with acute leukaemia and KMT2A (MLL) rearrangement show a distinctive expression pattern of histone deacetylases.
Vega-García N, Malatesta R, Estella C, Pérez-Jaume S, Esperanza-Cebollada E, Torrebadell M, Català A, Gassiot S, Berrueco R, Ruiz-Llobet A, Alonso-Saladrigues A, Mesegué M, Pont-Martí S, Rives S, Camós M. Vega-García N, et al. Br J Haematol. 2018 Aug;182(4):542-553. doi: 10.1111/bjh.15436. Epub 2018 Jul 5. Br J Haematol. 2018. PMID: 29978456 Free article.
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