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129 results

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Page 1
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P. Mokrani-Benhelli H, et al. Among authors: vasquez n. Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20. Hum Mutat. 2013. PMID: 23111928
Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.
Ceccaldi R, Briot D, Larghero J, Vasquez N, Dubois d'Enghien C, Chamousset D, Noguera ME, Waisfisz Q, Hermine O, Pondarre C, Leblanc T, Gluckman E, Joenje H, Stoppa-Lyonnet D, Socié G, Soulier J. Ceccaldi R, et al. Among authors: vasquez n. J Clin Invest. 2011 Jan;121(1):184-94. doi: 10.1172/JCI43836. Epub 2010 Dec 22. J Clin Invest. 2011. PMID: 21183791 Free PMC article.
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.
Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pagès MP, Vasquez N, Dubois d'Enghien C, Larghero J, Peffault de Latour R, Rocha V, Dalle JH, Schneider P, Michallet M, Michel G, Baruchel A, Sigaux F, Gluckman E, Leblanc T, Stoppa-Lyonnet D, Preudhomme C, Socié G, Soulier J. Quentin S, et al. Among authors: vasquez n. Blood. 2011 Apr 14;117(15):e161-70. doi: 10.1182/blood-2010-09-308726. Epub 2011 Feb 16. Blood. 2011. PMID: 21325596 Free article.
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.
Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P. Touzot F, et al. Among authors: vasquez n. J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10. J Allergy Clin Immunol. 2012. PMID: 22078571
Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells.
Ceccaldi R, Parmar K, Mouly E, Delord M, Kim JM, Regairaz M, Pla M, Vasquez N, Zhang QS, Pondarre C, Peffault de Latour R, Gluckman E, Cavazzana-Calvo M, Leblanc T, Larghero J, Grompe M, Socié G, D'Andrea AD, Soulier J. Ceccaldi R, et al. Among authors: vasquez n. Cell Stem Cell. 2012 Jul 6;11(1):36-49. doi: 10.1016/j.stem.2012.05.013. Epub 2012 Jun 7. Cell Stem Cell. 2012. PMID: 22683204 Free PMC article.
Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia.
Lesport E, Ferster A, Biver A, Roch B, Vasquez N, Jabado N, Vives FL, Revy P, Soulier J, de Villartay JP. Lesport E, et al. Among authors: vasquez n. Oncotarget. 2017 Dec 17;9(3):3779-3793. doi: 10.18632/oncotarget.23375. eCollection 2018 Jan 9. Oncotarget. 2017. PMID: 29423082 Free PMC 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: vasquez n. 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.
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: vasquez n. Blood. 2019 Oct 24;134(17):1441-1444. doi: 10.1182/blood.2019000909. Blood. 2019. PMID: 31484648 Free 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: vasquez n. 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.
129 results