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Page 1
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: brugieres l. 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.
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
Chompret A, Brugières L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frébourg T, Lemerle J, Bonaïti-Pellié C, Feunteun J. Chompret A, et al. Among authors: brugieres l. Br J Cancer. 2000 Jun;82(12):1932-7. doi: 10.1054/bjoc.2000.1167. Br J Cancer. 2000. PMID: 10864200 Free PMC article.
[Li-Fraumeni syndrome: update, new data and guidelines for clinical management].
Frebourg T, Abel A, Bonaiti-Pellie C, Brugières L, Berthet P, Bressac-de Paillerets B, Chevrier A, Chompret A, Cohen-Haguenauer O, Delattre O, Feingold J, Feunteun J, Frappaz D, Fricker JP, Gesta P, Jonveaux P, Kalifa C, Lasset C, Leheup B, Limacher JM, Longy M, Nogues C, Oppenheim D, Sommelet D, Soubrier F, Stoll C, Stoppa-Lyonnet D, Tristant H. Frebourg T, et al. Among authors: brugieres l. Bull Cancer. 2001 Jun;88(6):581-7. Bull Cancer. 2001. PMID: 11459705 Free article. Review. French.
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.
de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J. de Pontual L, et al. Among authors: brugieres l. Eur J Cancer. 2007 Nov;43(16):2366-72. doi: 10.1016/j.ejca.2007.07.016. Epub 2007 Aug 31. Eur J Cancer. 2007. PMID: 17765533 Free article.
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.
Bourdeaut F, Lequin D, Brugières L, Reynaud S, Dufour C, Doz F, André N, Stephan JL, Pérel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Fréneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O. Bourdeaut F, et al. Among authors: brugieres l. Clin Cancer Res. 2011 Jan 1;17(1):31-8. doi: 10.1158/1078-0432.CCR-10-1795. Clin Cancer Res. 2011. PMID: 21208904 Free article.
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: brugieres l. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.
Bourdeaut F, Ferrand S, Brugières L, Hilbert M, Ribeiro A, Lacroix L, Bénard J, Combaret V, Michon J, Valteau-Couanet D, Isidor B, Rialland X, Poirée M, Defachelles AS, Peuchmaur M, Schleiermacher G, Pierron G, Gauthier-Villars M, Janoueix-Lerosey I, Delattre O; Comité Neuroblastome of the Société Francaise de Cancérologie. Bourdeaut F, et al. Among authors: brugieres l. Eur J Hum Genet. 2012 Mar;20(3):291-7. doi: 10.1038/ejhg.2011.195. Epub 2011 Nov 9. Eur J Hum Genet. 2012. PMID: 22071890 Free PMC article.
309 results