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Page 1
Pediatric high-grade glioma MYCN is frequently associated with Li-Fraumeni syndrome.
Guerrini-Rousseau L, Tauziède-Espariat A, Castel D, Rouleau E, Sievers P, Saffroy R, Beccaria K, Blauwblomme T, Hasty L, Bourdeaut F, Grill J, Varlet P, Debily MA. Guerrini-Rousseau L, et al. Acta Neuropathol Commun. 2023 Jan 6;11(1):3. doi: 10.1186/s40478-022-01490-w. Acta Neuropathol Commun. 2023. PMID: 36609284 Free PMC article. No abstract available.
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.
Water and electrolyte disorders at long-term post-treatment follow-up in paediatric patients with suprasellar tumours include unexpected persistent cerebral salt-wasting syndrome.
González Briceño L, Grill J, Bourdeaut F, Doz F, Beltrand J, Benabbad I, Brugières L, Dufour C, Valteau-Couanet D, Guerrini-Rousseau L, Aerts I, Orbach D, Alapetite C, Samara-Boustani D, Pinto G, Simon A, Touraine P, Sainte-Rose C, Zerah M, Puget S, Elie C, Polak M. González Briceño L, et al. Horm Res Paediatr. 2014;82(6):364-71. doi: 10.1159/000368401. Epub 2014 Nov 1. Horm Res Paediatr. 2014. PMID: 25377653
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.
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.
61 results