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Page 1
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: larcher l. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636 Free article.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J. Torti E, et al. Among authors: larcher l. Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11. Genet Med. 2019. PMID: 30739909 Free PMC article.
Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL.
Passet M, Kim R, Gachet S, Sigaux F, Chaumeil J, Galland A, Sexton T, Quentin S, Hernandez L, Larcher L, Bergugnat H, Ye T, Karasu N, Caye A, Heizmann B, Duluc I, Chevallier P, Rousselot P, Huguet F, Leguay T, Hunault M, Pflumio F, Freund JN, Lobry C, Lhéritier V, Dombret H, Domon-Dell C, Soulier J, Boissel N, Clappier E. Passet M, et al. Among authors: larcher l. Blood. 2022 Jun 16;139(24):3505-3518. doi: 10.1182/blood.2021014723. Blood. 2022. PMID: 35316324 Free PMC article.
Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study.
Duployez N, Largeaud L, Duchmann M, Kim R, Rieunier J, Lambert J, Bidet A, Larcher L, Lemoine J, Delhommeau F, Hirsch P, Fenwarth L, Kosmider O, Decroocq J, Bouvier A, Le Bris Y, Ochmann M, Santagostino A, Adès L, Fenaux P, Thomas X, Micol JB, Gardin C, Itzykson R, Soulier J, Clappier E, Recher C, Preudhomme C, Pigneux A, Dombret H, Delabesse E, Sébert M. Duployez N, et al. Among authors: larcher l. Blood. 2022 Aug 18;140(7):756-768. doi: 10.1182/blood.2021015328. Blood. 2022. PMID: 35443031 Free PMC article.
Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.
Gurnari C, Pagliuca S, Prata PH, Galimard JE, Catto LFB, Larcher L, Sebert M, Allain V, Patel BJ, Durmaz A, Pinto AL, Inacio MCB, Hernandez L, Dhedin N, Caillat-Zucman S, Clappier E, Sicre de Fontbrune F, Voso MT, Visconte V, Peffault de Latour R, Soulier J, Calado RT, Socié G, Maciejewski JP. Gurnari C, et al. Among authors: larcher l. J Clin Oncol. 2023 Jan 1;41(1):132-142. doi: 10.1200/JCO.22.00710. Epub 2022 Sep 2. J Clin Oncol. 2023. PMID: 36054881 Free PMC article.
Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria.
Prata PH, Galimard JE, Sicre de Fontbrune F, Duval A, Vieira Martins P, Roncelin S, Debureaux PÉ, Lepretre AC, Larcher L, Birsen R, Benhamou Y, Soulier J, Socié G, Fremeaux-Bacchi V, Peffault de Latour R. Prata PH, et al. Among authors: larcher l. Blood. 2023 Apr 13;141(15):1812-1816. doi: 10.1182/blood.2022017019. Blood. 2023. PMID: 36626252 Free article.
115 results