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110 results

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Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
Machado-Pinilla R, Carrillo J, Manguan-Garcia C, Sastre L, Mentzer A, Gu BW, Mason PJ, Perona R. Machado-Pinilla R, et al. Among authors: sastre l. Clin Transl Oncol. 2012 Oct;14(10):755-63. doi: 10.1007/s12094-012-0865-4. Epub 2012 Jul 24. Clin Transl Oncol. 2012. PMID: 22855157 Free PMC article.
High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
Carrillo J, Martínez P, Solera J, Moratilla C, González A, Manguán-García C, Aymerich M, Canal L, Del Campo M, Dapena JL, Escoda L, García-Sagredo JM, Martín-Sala S, Rives S, Sevilla J, Sastre L, Perona R. Carrillo J, et al. Among authors: sastre l. Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2. Blood Cells Mol Dis. 2012. PMID: 22664374
Clinical implications of the ENCODE project.
Sastre L. Sastre L. Clin Transl Oncol. 2012 Nov;14(11):801-2. doi: 10.1007/s12094-012-0958-0. Epub 2012 Oct 11. Clin Transl Oncol. 2012. PMID: 23054760 Free article. No abstract available.
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Carrillo J, Calvete O, Pintado-Berninches L, Manguan-García C, Sevilla Navarro J, Arias-Salgado EG, Sastre L, Guenechea G, López Granados E, de Villartay JP, Revy P, Benitez J, Perona R. Carrillo J, et al. Among authors: sastre l. Hum Mol Genet. 2017 May 15;26(10):1900-1914. doi: 10.1093/hmg/ddx098. Hum Mol Genet. 2017. PMID: 28369633
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. Among authors: sastre l. 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.
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Gálvez E, Vallespín E, Arias-Salgado EG, Sánchez-Valdepeñas C, Giménez Y, Navarro S, Río P, Bogliolo M, Pujol R, Peiró M, Nevado J, Zubicaray J, Sebastián E, Catalá A, Beléndez C, Díaz de Heredia C, Galera A, Badell I, Madero L, Perona R, Sastre L, Surrallés J, Bueren J, Lapunzina P, Sevilla J. Gálvez E, et al. Among authors: sastre l. Hemasphere. 2021 Mar 9;5(4):e539. doi: 10.1097/HS9.0000000000000539. eCollection 2021 Apr. Hemasphere. 2021. PMID: 33718801 Free PMC article.
110 results