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Page 1
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. 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.
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. Haematologica. 2009 Apr;94(4):487-95. doi: 10.3324/haematol.13592. Epub 2009 Mar 10. Haematologica. 2009. PMID: 19278965 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. 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.
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
Germline BAP1 mutations predispose to renal cell carcinomas.
Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C, Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L, Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manié E, de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O, Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B, Stoppa-Lyonnet D, Stern MH. Popova T, et al. Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi: 10.1016/j.ajhg.2013.04.012. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684012 Free PMC article.
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
Méneret A, Ahmar-Beaugendre Y, Rieunier G, Mahlaoui N, Gaymard B, Apartis E, Tranchant C, Rivaud-Péchoux S, Degos B, Benyahia B, Suarez F, Maisonobe T, Koenig M, Durr A, Stern MH, Dubois d'Enghien C, Fischer A, Vidailhet M, Stoppa-Lyonnet D, Grabli D, Anheim M. Méneret A, et al. Neurology. 2014 Sep 16;83(12):1087-95. doi: 10.1212/WNL.0000000000000794. Epub 2014 Aug 13. Neurology. 2014. PMID: 25122203
Fanconi anemia and solid malignancies in childhood: a national retrospective study.
Malric A, Defachelles AS, Leblanc T, Lescoeur B, Lacour B, Peuchmaur M, Maurage CA, Pierron G, Guillemot D, d'Enghien CD, Soulier J, Stoppa-Lyonnet D, Bourdeaut F. Malric A, et al. Pediatr Blood Cancer. 2015 Mar;62(3):463-70. doi: 10.1002/pbc.25303. Epub 2014 Nov 8. Pediatr Blood Cancer. 2015. PMID: 25381700 Clinical Trial.
492 results