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Page 1
Diagnosis of Fanconi anemia in patients with bone marrow failure.
Pinto FO, Leblanc T, Chamousset D, Le Roux G, Brethon B, Cassinat B, Larghero J, de Villartay JP, Stoppa-Lyonnet D, Baruchel A, Socié G, Gluckman E, Soulier J. Pinto FO, et al. Among authors: soulier j. Haematologica. 2009 Apr;94(4):487-95. doi: 10.3324/haematol.13592. Epub 2009 Mar 10. Haematologica. 2009. PMID: 19278965 Free PMC article.
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: soulier j. 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: soulier j. 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: soulier j. 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: soulier j. 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.
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: soulier j. Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20. Hum Mutat. 2013. PMID: 23111928
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: soulier j. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
611 results