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Year Number of Results
2008 1
2009 1
2010 1
2011 3
2013 2
2014 2
2015 2
2016 1
2017 1
2018 2
2019 4
2020 1
2021 2
2022 2
2024 1

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Page 1
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
Villy MC, Le Ven A, Le Mentec M, Masliah-Planchon J, Houy A, Bièche I, Vacher S, Vincent-Salomon A, Dubois d'Enghien C, Schwartz M, Piperno-Neumann S, Matet A, Malaise D, Bubien V, Lortholary A, Ait Omar A, Cavaillé M, Stoppa-Lyonnet D, Cassoux N, Stern MH, Rodrigues M, Golmard L, Colas C. Villy MC, et al. Among authors: dubois d enghien c. J Natl Cancer Inst. 2024 Apr 5;116(4):580-587. doi: 10.1093/jnci/djad248. J Natl Cancer Inst. 2024. PMID: 38060262
Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, Nougues MC, Ioos C, Rougeot C, Masurel A, Bourjault C, Ginglinger E, Prieur F, Siri A, Bordigoni P, Nguyen K, Philippe N, Bellesme C, Demeocq F, Altuzarra C, Mathieu-Dramard M, Couderc F, Dörk T, Auger N, Parfait B, Abidallah K, Moncoutier V, Collet A, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Among authors: dubois d enghien c. Hum Mutat. 2019 Oct;40(10):1713-1730. doi: 10.1002/humu.23778. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31050087
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
Golmard L, Vasta LM, Duflos V, Corsini C, Dubois d'Enghien C, McMaster ML, Harney LA, Carr AG, Ling A, Dijoud F, Gauthier A, Miettinen M, Cost NG, Gauthier-Villars M, Orbach D, Irtan S, Haouy S, Schultz KA, Stoppa-Lyonnet D, Coupier I, Stewart DR, Sirvent N. Golmard L, et al. Among authors: dubois d enghien c. J Med Genet. 2022 Apr;59(4):346-350. doi: 10.1136/jmedgenet-2020-107434. Epub 2021 Mar 29. J Med Genet. 2022. PMID: 33782093 Free PMC article.
Biallelic inactivation of REV7 is associated with Fanconi anemia.
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Bluteau D, et al. Among authors: dubois d enghien c. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500492 Free PMC article.
Molecular defects in Moroccan patients with ataxia-telangiectasia.
Jeddane L, Ailal F, Dubois-d'Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y, El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H. Jeddane L, et al. Among authors: dubois d enghien c. Neuromolecular Med. 2013 Jun;15(2):288-94. doi: 10.1007/s12017-013-8218-1. Epub 2013 Jan 16. Neuromolecular Med. 2013. PMID: 23322442
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. Among authors: dubois d enghien c. Neurology. 2014 Sep 16;83(12):1087-95. doi: 10.1212/WNL.0000000000000794. Epub 2014 Aug 13. Neurology. 2014. PMID: 25122203
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. Among authors: dubois d enghien c. 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.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.
Berland A, Rosain J, Kaltenbach S, Allain V, Mahlaoui N, Melki I, Fievet A, Dubois d'Enghien C, Ouachée-Chardin M, Perrin L, Auger N, Cipe FE, Finocchi A, Dogu F, Suarez F, Moshous D, Leblanc T, Belot A, Fieschi C, Boutboul D, Malphettes M, Galicier L, Oksenhendler E, Blanche S, Fischer A, Revy P, Stoppa-Lyonnet D, Picard C, de Villartay JP. Berland A, et al. Among authors: dubois d enghien c. J Allergy Clin Immunol. 2019 Jan;143(1):325-334.e2. doi: 10.1016/j.jaci.2018.05.028. Epub 2018 Jun 12. J Allergy Clin Immunol. 2019. PMID: 29906526 Clinical Trial.
21 results