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Page 1
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S, Kermasson L, Hilcenko C, Kargas V, Traynor D, Boukerrou AZ, Escudero-Urquijo N, Faille A, Bertrand A, Rossmann M, Goyenechea B, Jin L, Moreil J, Alibeu O, Beaupain B, Bôle-Feysot C, Fumagalli S, Kaltenbach S, Martignoles JA, Masson C, Nitschké P, Parisot M, Pouliet A, Radford-Weiss I, Tores F, de Villartay JP, Zarhrate M, Koh AL, Phua KB, Reversade B, Bond PJ, Bellanné-Chantelot C, Callebaut I, Delhommeau F, Donadieu J, Warren AJ, Revy P. Tan S, et al. Nat Commun. 2021 Aug 19;12(1):5044. doi: 10.1038/s41467-021-24999-5. Nat Commun. 2021. PMID: 34413298 Free PMC article.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S, Kermasson L, Hoslin A, Jaako P, Faille A, Acevedo-Arozena A, Lengline E, Ranta D, Poirée M, Fenneteau O, Ducou le Pointe H, Fumagalli S, Beaupain B, Nitschké P, Bôle-Feysot C, de Villartay JP, Bellanné-Chantelot C, Donadieu J, Kannengiesser C, Warren AJ, Revy P. Tan S, et al. Blood. 2019 Jul 18;134(3):277-290. doi: 10.1182/blood.2018893404. Epub 2019 May 31. Blood. 2019. PMID: 31151987 Free PMC article.
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.
Tan S, Kermasson L, Hilcenko C, Kargas V, Traynor D, Boukerrou AZ, Escudero-Urquijo N, Faille A, Bertrand A, Rossmann M, Goyenechea B, Jin L, Moreil J, Alibeu O, Beaupain B, Bôle-Feysot C, Fumagalli S, Kaltenbach S, Martignoles JA, Masson C, Nitschké P, Parisot M, Pouliet A, Radford-Weiss I, Tores F, de Villartay JP, Zarhrate M, Koh AL, Phua KB, Reversade B, Bond PJ, Bellanné-Chantelot C, Callebaut I, Delhommeau F, Donadieu J, Warren AJ, Revy P. Tan S, et al. Nat Commun. 2022 Jun 22;13(1):3574. doi: 10.1038/s41467-022-31316-1. Nat Commun. 2022. PMID: 35732670 Free PMC article. No abstract available.
Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review.
Bou Mitri F, Beaupain B, Flejou JF, Patient M, Okhremchuck I, Blaise D, Izadifar-Legrand F, Martignoles JA, Delhommeau F, Bellanne-Chantelot C, Emile JF, Donadieu J. Bou Mitri F, et al. Pediatr Blood Cancer. 2021 Jul;68(7):e29071. doi: 10.1002/pbc.29071. Epub 2021 Apr 19. Pediatr Blood Cancer. 2021. PMID: 33871916 Review.
Epidemiology of congenital neutropenia.
Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C. Donadieu J, et al. Hematol Oncol Clin North Am. 2013 Feb;27(1):1-17, vii. doi: 10.1016/j.hoc.2012.11.003. Hematol Oncol Clin North Am. 2013. PMID: 23351985 Review.
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