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1 |
Material Type: Artigo
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Bone Marrow Failure in Fanconi Anemia Is Triggered by an Exacerbated p53/p21 DNA Damage Response that Impairs Hematopoietic Stem and Progenitor CellsCeccaldi, Raphael ; Parmar, Kalindi ; Mouly, Enguerran ; Delord, Marc ; Kim, Jung Min ; Regairaz, Marie ; Pla, Marika ; Vasquez, Nadia ; Zhang, Qing-Shuo ; Pondarre, Corinne ; Peffault de Latour, Régis ; Gluckman, Eliane ; Cavazzana-Calvo, Marina ; Leblanc, Thierry ; Larghero, Jérôme ; Grompe, Markus ; Socié, Gérard ; D'Andrea, Alan D. ; Soulier, JeanCell stem cell, 2012-07, Vol.11 (1), p.36-49 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo
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Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor‐mimicking lesions in the brain and acute neurological deteriorationÖzdemir, Zeynep Canan ; Yarar, Coşkun ; Öztunalı, Çiğdem ; Töret, Ersin ; Çarman, Kürşat Bora ; Bör, ÖzcanPediatric blood & cancer, 2024-07, Vol.71 (7), p.e30773-n/a [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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3 |
Material Type: Artigo
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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutationsCastella, Maria ; Pujol, Roser ; Callén, Elsa ; Trujillo, Juan P. ; Casado, José A. ; Gille, Hans ; Lach, Francis P. ; Auerbach, Arleen D. ; Schindler, Detlev ; Benítez, Javier ; Porto, Beatriz ; Ferro, Teresa ; Muñoz, Arturo ; Sevilla, Julián ; Madero, Luis ; Cela, Elena ; Beléndez, Cristina ; de Heredia, Cristina Díaz ; Olivé, Teresa ; de Toledo, José Sánchez ; Badell, Isabel ; Torrent, Montserrat ; Estella, Jesús ; Dasí, Ángeles ; Rodríguez-Villa, Antonia ; Gómez, Pedro ; Barbot, José ; Tapia, María ; Molinés, Antonio ; Figuera, Ángela ; Bueren, Juan A. ; Surrallés, JordiBlood, 2011-04, Vol.117 (14), p.3759-3769 [Periódico revisado por pares]Washington, DC: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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Radiation-free, alternative-donor HCT for Fanconi anemia patients: results from a prospective multi-institutional studyMehta, Parinda A. ; Davies, Stella M. ; Leemhuis, Thomas ; Myers, Kasiani ; Kernan, Nancy A. ; Prockop, Susan E. ; Scaradavou, Andromachi ; O'Reilly, Richard J. ; Williams, David A. ; Lehmann, Leslie ; Guinan, Eva ; Margolis, David ; Baker, K.Scott ; Lane, Adam ; Boulad, FaridBlood, 2017-04, Vol.129 (16), p.2308-2315 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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5 |
Material Type: Artigo
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Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi AnemiaHira, Asuka ; Yoshida, Kenichi ; Sato, Koichi ; Okuno, Yusuke ; Shiraishi, Yuichi ; Chiba, Kenichi ; Tanaka, Hiroko ; Miyano, Satoru ; Shimamoto, Akira ; Tahara, Hidetoshi ; Ito, Etsuro ; Kojima, Seiji ; Kurumizaka, Hitoshi ; Ogawa, Seishi ; Takata, Minoru ; Yabe, Hiromasa ; Yabe, MiharuAmerican journal of human genetics, 2015-06, Vol.96 (6), p.1001-1007 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34+ cells from Fanconi anemia patientsRío, Paula ; Navarro, Susana ; Guenechea, Guillermo ; Sánchez-Domínguez, Rebeca ; Lamana, Maria Luisa ; Yañez, Rosa ; Casado, Jose A. ; Mehta, Parinda A. ; Pujol, Maria Roser ; Surrallés, Jordi ; Charrier, Sabine ; Galy, Anne ; Segovia, José C. ; Díaz de Heredia, Cristina ; Sevilla, Julián ; Bueren, Juan A.Blood, 2017-09, Vol.130 (13), p.1535-1542 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Novel lineage depletion preserves autologous blood stem cells for gene therapy of Fanconi anemia complementation group AAdair, Jennifer E ; Chandrasekaran, Devikha ; Sghia-Hughes, Gabriella ; Haworth, Kevin G ; Woolfrey, Ann E ; Burroughs, Lauri M ; Choi, Grace Y ; Becker, Pamela S ; Kiem, Hans-PeterHaematologica (Roma), 2018-11, Vol.103 (11), p.1806-1814 [Periódico revisado por pares]Italy: Ferrata Storti FoundationTexto completo disponível |
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8 |
Material Type: Artigo
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Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learnedRisitano, Antonio M ; Marotta, Serena ; Calzone, Rita ; Grimaldi, Francesco ; Zatterale, AdrianaHaematologica (Roma), 2016-03, Vol.101 (3), p.319-327 [Periódico revisado por pares]Italy: Ferrata Storti FoundationTexto completo disponível |
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9 |
Material Type: Artigo
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Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group ARavera, Silvia ; Vaccaro, Daniele ; Cuccarolo, Paola ; Columbaro, Marta ; Capanni, Cristina ; Bartolucci, Martina ; Panfoli, Isabella ; Morelli, Alessandro ; Dufour, Carlo ; Cappelli, Enrico ; Degan, PaoloBiochimie, 2013-10, Vol.95 (10), p.1828-1837 [Periódico revisado por pares]France: Elsevier B.VTexto completo disponível |
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10 |
Material Type: Artigo
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Telomere length in inherited bone marrow failure syndromesAlter, Blanche P ; Giri, Neelam ; Savage, Sharon A ; Rosenberg, Philip SHaematologica (Roma), 2015-01, Vol.100 (1), p.49-54 [Periódico revisado por pares]Italy: Ferrata Storti FoundationTexto completo disponível |