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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
Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands.
Gueguen L, Delaval R, Blanluet M, Sartelet H, Leou S, Dubois d'Enghien C, Golmard L, Stoppa-Lyonnet D, Testevuide P, Faguer S. Gueguen L, et al. Among authors: dubois d enghien c. Kidney Int Rep. 2021 May 21;6(8):2207-2211. doi: 10.1016/j.ekir.2021.05.010. eCollection 2021 Aug. Kidney Int Rep. 2021. PMID: 34386670 Free PMC article. No abstract available.
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.
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
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A, Bellanger D, Valence S, Mobuchon L, Afenjar A, Giuliano F, Dubois d'Enghien C, Parfait B, Pedespan JM, Auger N, Rieunier G, Collet A, Burglen L, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Among authors: dubois d enghien c. Hum Mutat. 2019 Oct;40(10):1690-1699. doi: 10.1002/humu.23773. Epub 2019 May 15. Hum Mutat. 2019. PMID: 31033087
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.
Mutiple DICER1-related lesions associated with a germline deep intronic mutation.
Verrier F, Dubois d'Enghien C, Gauthier-Villars M, Bonadona V, Faure-Conter C, Dijoud F, Stoppa-Lyonnet D, Houdayer C, Golmard L. Verrier F, et al. Among authors: dubois d enghien c. Pediatr Blood Cancer. 2018 Jun;65(6):e27005. doi: 10.1002/pbc.27005. Epub 2018 Feb 22. Pediatr Blood Cancer. 2018. PMID: 29469200
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
Mariani LL, Rivaud-Péchoux S, Charles P, Ewenczyk C, Meneret A, Monga BB, Fleury MC, Hainque E, Maisonobe T, Degos B, Echaniz-Laguna A, Renaud M, Wirth T, Grabli D, Brice A, Vidailhet M, Stoppa-Lyonnet D, Dubois-d'Enghien C, Le Ber I, Koenig M, Roze E, Tranchant C, Durr A, Gaymard B, Anheim M. Mariani LL, et al. Among authors: dubois d enghien c. Sci Rep. 2017 Nov 10;7(1):15284. doi: 10.1038/s41598-017-15127-9. Sci Rep. 2017. PMID: 29127364 Free PMC article. Clinical Trial.
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