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961 results

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Page 1
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J. Bluteau O, et al. Among authors: da costa m. Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16. Blood. 2018. PMID: 29146883 Free article.
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.
Sébert M, Passet M, Raimbault A, Rahmé R, Raffoux E, Sicre de Fontbrune F, Cerrano M, Quentin S, Vasquez N, Da Costa M, Boissel N, Dombret H, Peffault de Latour R, Socié G, Itzykson R, Fenaux P, Soulier J, Adès L, Clappier E. Sébert M, et al. Among authors: da costa m. Blood. 2019 Oct 24;134(17):1441-1444. doi: 10.1182/blood.2019000909. Blood. 2019. PMID: 31484648 Free article.
Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia.
Sebert M, Gachet S, Leblanc T, Rousseau A, Bluteau O, Kim R, Ben Abdelali R, Sicre de Fontbrune F, Maillard L, Fedronie C, Murigneux V, Bellenger L, Naouar N, Quentin S, Hernandez L, Vasquez N, Da Costa M, Prata PH, Larcher L, de Tersant M, Duchmann M, Raimbault A, Trimoreau F, Fenneteau O, Cuccuini W, Gachard N, Auger N, Tueur G, Blanluet M, Gazin C, Souyri M, Langa Vives F, Mendez-Bermudez A, Lapillonne H, Lengline E, Raffoux E, Fenaux P, Adès L, Forcade E, Jubert C, Domenech C, Strullu M, Bruno B, Buchbinder N, Thomas C, Petit A, Leverger G, Michel G, Cavazzana M, Gluckman E, Bertrand Y, Boissel N, Baruchel A, Dalle JH, Clappier E, Gilson E, Deriano L, Chevret S, Sigaux F, Socié G, Stoppa-Lyonnet D, de Thé H, Antoniewski C, Bluteau D, Peffault de Latour R, Soulier J. Sebert M, et al. Among authors: da costa m. Cell Stem Cell. 2023 Feb 2;30(2):153-170.e9. doi: 10.1016/j.stem.2023.01.006. Cell Stem Cell. 2023. PMID: 36736290 Free article.
A clickable melphalan for monitoring DNA interstrand crosslink accumulation and detecting ICL repair defects in Fanconi anemia patient cells.
Berrada S, Martínez-Balsalobre E, Larcher L, Azzoni V, Vasquez N, Da Costa M, Abel S, Audoly G, Lee L, Montersino C, Castellano R, Combes S, Gelot C, Ceccaldi R, Guervilly JH, Soulier J, Lachaud C. Berrada S, et al. Among authors: da costa m. Nucleic Acids Res. 2023 Aug 25;51(15):7988-8004. doi: 10.1093/nar/gkad559. Nucleic Acids Res. 2023. PMID: 37395445 Free PMC article.
Germline CHEK2 mutations in patients with myeloid neoplasms.
Freiman L, Larcher L, Tueur G, Vasquez N, Da Costa M, Duchmann M, Raffoux E, Adès L, Fenaux P, Soulier J, Duployez N, Clappier E, Sébert M. Freiman L, et al. Among authors: da costa m. Leukemia. 2024 Apr;38(4):908-911. doi: 10.1038/s41375-024-02179-w. Epub 2024 Feb 20. Leukemia. 2024. PMID: 38378842 No abstract available.
A germline mutation in PBRM1 predisposes to renal cell carcinoma.
Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, Gad S. Benusiglio PR, et al. Among authors: da costa m. J Med Genet. 2015 Jun;52(6):426-30. doi: 10.1136/jmedgenet-2014-102912. Epub 2015 Apr 24. J Med Genet. 2015. PMID: 25911086
Involvement of PBRM1 in VHL disease-associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway.
Gad S, Le Teuff G, Nguyen B, Verkarre V, Duchatelle V, Molinie V, Posseme K, Grandon B, Da Costa M, Job B, Meurice G, Droin N, Mejean A, Couve S, Renaud F, Gardie B, Teh BT, Richard S, Ferlicot S. Gad S, et al. Among authors: da costa m. Oncol Lett. 2021 Dec;22(6):835. doi: 10.3892/ol.2021.13096. Epub 2021 Oct 15. Oncol Lett. 2021. PMID: 34712359 Free PMC article.
961 results