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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 2
2003 3
2004 1
2005 2
2006 1
2008 2
2009 2
2013 3
2014 3
2015 6
2016 2
2017 6
2018 4
2020 4
2021 4
2022 1
2023 1
2024 0

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41 results

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Page 1
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugières L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaïti-Pellié C, Tinat J, Baert-Desurmont S, Frebourg T. Bougeard G, et al. J Clin Oncol. 2015 Jul 20;33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. Epub 2015 May 26. J Clin Oncol. 2015. PMID: 26014290
Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
Kolodziejczak AS, Guerrini-Rousseau L, Planchon JM, Ecker J, Selt F, Mynarek M, Obrecht D, Sill M, Autry RJ, Stutheit-Zhao E, Hirsch S, Amouyal E, Dufour C, Ayrault O, Torrejon J, Waszak SM, Ramaswamy V, Pentikainen V, Demir HA, Clifford SC, Schwalbe EC, Massimi L, Snuderl M, Galbraith K, Karajannis MA, Hill K, Li BK, Walsh M, White CL, Redmond S, Loizos L, Jakob M, Kordes UR, Schmid I, Hauer J, Blattmann C, Filippidou M, Piccolo G, Scheurlen W, Farrag A, Grund K, Sutter C, Pietsch T, Frank S, Schewe DM, Malkin D, Ben-Arush M, Sehested A, Wong TT, Wu KS, Liu YL, Carceller F, Mueller S, Stoller S, Taylor MD, Tabori U, Bouffet E, Kool M, Sahm F, von Deimling A, Korshunov A, von Hoff K, Kratz CP, Sturm D, Jones DTW, Rutkowski S, van Tilburg CM, Witt O, Bougeard G, Pajtler KW, Pfister SM, Bourdeaut F, Milde T. Kolodziejczak AS, et al. Among authors: bougeard g. Neuro Oncol. 2023 Dec 8;25(12):2273-2286. doi: 10.1093/neuonc/noad114. Neuro Oncol. 2023. PMID: 37379234
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L. Lavoine N, et al. Among authors: bougeard g. J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. J Med Genet. 2015. PMID: 26318770 Review.
Detecting inversions in routine molecular diagnosis in MMR genes.
Kasper E, Coutant S, Manase S, Vasseur S, Macquère P, Bougeard G, Faivre L, Ingster O, Baert-Desurmont S, Houdayer C. Kasper E, et al. Among authors: bougeard g. Fam Cancer. 2022 Oct;21(4):423-428. doi: 10.1007/s10689-021-00287-5. Epub 2022 Jan 8. Fam Cancer. 2022. PMID: 34997397
Gestational choriocarcinoma associated with a germline TP53 mutation.
Brehin AC, Patrier-Sallebert S, Bougeard G, Side-Pfennig G, Llamas Gutierrez F, Lamy A, Colasse E, Kandel-Aznar C, Delnatte C, Vuillemin E, Sadot-Lebouvier S, Odent S, Sabourin JC, Golfier F, Frebourg T. Brehin AC, et al. Among authors: bougeard g. Fam Cancer. 2018 Jan;17(1):113-117. doi: 10.1007/s10689-017-9996-7. Fam Cancer. 2018. PMID: 28477316
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Frébourg T, Tournier I. Heddar A, et al. Among authors: bougeard g. Genes Chromosomes Cancer. 2017 Feb;56(2):128-134. doi: 10.1002/gcc.22419. Epub 2016 Oct 25. Genes Chromosomes Cancer. 2017. PMID: 27636706
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Raad S, Rolain M, Coutant S, Derambure C, Lanos R, Charbonnier F, Bou J, Bouvignies E, Lienard G, Vasseur S, Farrell M, Ingster O, Baert Desurmont S, Kasper E, Bougeard G, Frébourg T, Tournier I. Raad S, et al. Among authors: bougeard g. J Med Genet. 2021 Dec;58(12):796-805. doi: 10.1136/jmedgenet-2020-107059. Epub 2020 Oct 13. J Med Genet. 2021. PMID: 33051313 Free PMC article.
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Jouenne F, Chauvot de Beauchene I, Bollaert E, Avril MF, Caron O, Ingster O, Lecesne A, Benusiglio P, Terrier P, Caumette V, Pissaloux D, de la Fouchardière A, Cabaret O, N'Diaye B, Velghe A, Bougeard G, Mann GJ, Koscielny S, Barrett JH, Harland M, Newton-Bishop J, Gruis N, Van Doorn R, Gauthier-Villars M, Pierron G, Stoppa-Lyonnet D, Coupier I, Guimbaud R, Delnatte C, Scoazec JY, Eggermont AM, Feunteun J, Tchertanov L, Demoulin JB, Frebourg T, Bressac-de Paillerets B. Jouenne F, et al. Among authors: bougeard g. J Med Genet. 2017 Sep;54(9):607-612. doi: 10.1136/jmedgenet-2016-104402. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592523 Free article.
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. Boulouard F, et al. Among authors: bougeard g. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. Clin Genet. 2021. PMID: 33454955
41 results