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Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”. Bodo S, et al. Among authors: parfait b. Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25. Gastroenterology. 2015. PMID: 26116798 Free article.
[Mutation mechanisms and their consequences].
Hanna N, Parfait B, Vidaud D, Vidaud M. Hanna N, et al. Among authors: parfait b. Med Sci (Paris). 2005 Nov;21(11):969-80. doi: 10.1051/medsci/20052111969. Med Sci (Paris). 2005. PMID: 16274649 Free article. Review. French.
Microarray-based identification of tenascin C and tenascin XB, genes possibly involved in tumorigenesis associated with neurofibromatosis type 1.
Lévy P, Ripoche H, Laurendeau I, Lazar V, Ortonne N, Parfait B, Leroy K, Wechsler J, Salmon I, Wolkenstein P, Dessen P, Vidaud M, Vidaud D, Bièche I. Lévy P, et al. Among authors: parfait b. Clin Cancer Res. 2007 Jan 15;13(2 Pt 1):398-407. doi: 10.1158/1078-0432.CCR-06-0182. Epub 2007 Jan 3. Clin Cancer Res. 2007. PMID: 17202312
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. Pasmant E, et al. Among authors: parfait b. J Med Genet. 2009 Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243. Epub 2009 Apr 14. J Med Genet. 2009. PMID: 19366998 Free article.
Detection and characterization of NF1 microdeletions by custom high resolution array CGH.
Pasmant E, Sabbagh A, Masliah-Planchon J, Haddad V, Hamel MJ, Laurendeau I, Soulier J, Parfait B, Wolkenstein P, Bièche I, Vidaud M, Vidaud D. Pasmant E, et al. Among authors: parfait b. J Mol Diagn. 2009 Nov;11(6):524-9. doi: 10.2353/jmoldx.2009.090064. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767589 Free PMC article.
108 results