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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. 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.
Mesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomas.
Puget S, Philippe C, Bax DA, Job B, Varlet P, Junier MP, Andreiuolo F, Carvalho D, Reis R, Guerrini-Rousseau L, Roujeau T, Dessen P, Richon C, Lazar V, Le Teuff G, Sainte-Rose C, Geoerger B, Vassal G, Jones C, Grill J. Puget S, et al. PLoS One. 2012;7(2):e30313. doi: 10.1371/journal.pone.0030313. Epub 2012 Feb 28. PLoS One. 2012. PMID: 22389665 Free PMC article.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G. Renaux-Petel M, et al. J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25. J Med Genet. 2018. PMID: 29070607
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L. Guerrini-Rousseau L, et al. Neuro Oncol. 2018 Jul 5;20(8):1122-1132. doi: 10.1093/neuonc/nox228. Neuro Oncol. 2018. PMID: 29186568 Free PMC article.
New research directions in medulloblastoma.
Grill J, Dufour C, Guerrini-Rousseau L, Ayrault O. Grill J, et al. Neurochirurgie. 2021 Feb;67(1):87-89. doi: 10.1016/j.neuchi.2019.01.002. Epub 2019 Mar 21. Neurochirurgie. 2021. PMID: 30904166
Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.
Surun A, Varlet P, Brugières L, Lacour B, Faure-Conter C, Leblond P, Bertozzi-Salomon AI, Berger C, André N, Sariban E, Raimbault S, Prieur F, Desseigne F, Zattara H, Guimbaud R, Polivka M, Delisle MB, Vasiljevic A, Maurage CA, Figarella-Branger D, Coulet F, Guerrini-Rousseau L, Alapetite C, Dufour C, Colas C, Doz F, Bourdeaut F. Surun A, et al. Neuro Oncol. 2020 Jan 11;22(1):128-138. doi: 10.1093/neuonc/noz154. Neuro Oncol. 2020. PMID: 31504825 Free PMC article.
Role of neoadjuvant chemotherapy in metastatic medulloblastoma: a comparative study in 92 children.
Guerrini-Rousseau L, Abbas R, Huybrechts S, Kieffer-Renaux V, Puget S, Andreiuolo F, Beccaria K, Blauwblomme T, Bolle S, Dhermain F, Longaud Valès A, Roujeau T, Sainte-Rose C, Tauziede-Espariat A, Varlet P, Zerah M, Valteau-Couanet D, Dufour C, Grill J. Guerrini-Rousseau L, et al. Neuro Oncol. 2020 Nov 26;22(11):1686-1695. doi: 10.1093/neuonc/noaa083. Neuro Oncol. 2020. PMID: 32267940 Free PMC article.
61 results