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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Among authors: bueren j. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Fañanas-Baquero S, Morín M, Fernández S, Ojeda-Perez I, Dessy-Rodriguez M, Giurgiu M, Bueren JA, Moreno-Pelayo MA, Segovia JC, Quintana-Bustamante O. Fañanas-Baquero S, et al. Among authors: bueren ja. Front Genome Ed. 2023 Apr 28;5:1104666. doi: 10.3389/fgeed.2023.1104666. eCollection 2023. Front Genome Ed. 2023. PMID: 37188156 Free PMC article.
Role of Hospital Exemption in Europe: position paper from the Spanish Advanced Therapy Network (TERAV).
Sánchez-Guijo F, Avendaño-Solá C, Badimón L, Bueren JA, Canals JM, Delgadillo J, Delgado J, Eguizábal C, Fernández-Santos ME, García-Olmo D, González-Aseguinolaza G, Juan M, Martín F, Mata R, Montserrat N, Pérez-Martínez A, Pérez-Simón JA, Prósper F, Urbano-Ispizua Á, Zapata AG, Sureda A, Moraleda JM. Sánchez-Guijo F, et al. Among authors: bueren ja. Bone Marrow Transplant. 2023 Jun;58(6):727-728. doi: 10.1038/s41409-023-01962-0. Epub 2023 Mar 25. Bone Marrow Transplant. 2023. PMID: 36966215 Free PMC article. No abstract available.
Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia.
Giménez Y, Palacios M, Sánchez-Domínguez R, Zorbas C, Peral J, Puzik A, Ugalde L, Alberquilla O, Villanueva M, Río P, Gálvez E, Da Costa L, Strullu M, Catala A, Ruiz-Llobet A, Segovia JC, Sevilla J, Strahm B, Niemeyer CM, Beléndez C, Leblanc T, Lafontaine DL, Bueren J, Navarro S. Giménez Y, et al. Among authors: bueren j. JCI Insight. 2024 May 22;9(10):e171650. doi: 10.1172/jci.insight.171650. JCI Insight. 2024. PMID: 38775150 Free article.
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies.
Beaverson KL, Julkowska D, Letinturier MCV, Aartsma-Rus A, Austin J, Bueren J, Frost S, Hamamura M, Larkindale J, LaRosa G, Magenheim R, Merico A, Gerdina Pasmooij AM, Pirard V, Ekow Thomford N, Wada M, Wong-Rieger D, Hartman AL. Beaverson KL, et al. Among authors: bueren j. Ther Adv Rare Dis. 2023 Jul 29;4:26330040231188979. doi: 10.1177/26330040231188979. eCollection 2023 Jan-Dec. Ther Adv Rare Dis. 2023. PMID: 37529076 Free PMC article.
Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia.
Lasaga M, Río P, Vilas-Zornoza A, Planell N, Navarro S, Alignani D, Fernández-Varas B, Mouzo D, Zubicaray J, Pujol RM, Nicoletti E, Schwartz JD, Sevilla J, Ainciburi M, Ullate-Agote A, Surrallés J, Perona R, Sastre L, Prosper F, Gomez-Cabrero D, Bueren JA. Lasaga M, et al. Among authors: bueren ja. Haematologica. 2023 Oct 1;108(10):2652-2663. doi: 10.3324/haematol.2022.282418. Haematologica. 2023. PMID: 37021532 Free PMC article.
205 results