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139 results

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Page 1
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. 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.
Diagnostic accuracy of a minimal immunohistochemical panel in at/rt molecular subtyping, correlated to dna-methylation profiling.
Tauziède-Espariat A, Masliah-Planchon J, Andrianteranagna M, Sievers P, Sahm F, von Deimling A, Hasty L, Delattre O, Beccaria K, Métais A, Chrétien F, Varlet P, Bourdeaut F. Tauziède-Espariat A, et al. Acta Neuropathol Commun. 2023 Aug 21;11(1):136. doi: 10.1186/s40478-023-01630-w. Acta Neuropathol Commun. 2023. PMID: 37605249 Free PMC article. No abstract available.
Microsatellite instability detection in breast cancer using drop-off droplet digital PCR.
Klouch KZ, Stern MH, Trabelsi-Grati O, Kiavue N, Cabel L, Silveira AB, Hego C, Rampanou A, Popova T, Bataillon G, Nasr S, Proudhon C, Michel M, Renault V, Masliah Planchon J, Vincent-Salomon A, Pierga JY, Bieche I, Renault S, Bidard FC. Klouch KZ, et al. Oncogene. 2022 Dec;41(49):5289-5297. doi: 10.1038/s41388-022-02504-6. Epub 2022 Nov 3. Oncogene. 2022. PMID: 36329125
Cell-Free DNA Extracted from CSF for the Molecular Diagnosis of Pediatric Embryonal Brain Tumors.
Chicard M, Iddir Y, Masliah Planchon J, Combaret V, Attignon V, Saint-Charles A, Frappaz D, Faure-Conter C, Beccaria K, Varlet P, Geoerger B, Baulande S, Pierron G, Bouchoucha Y, Doz F, Delattre O, Waterfall JJ, Bourdeaut F, Schleiermacher G. Chicard M, et al. Cancers (Basel). 2023 Jul 7;15(13):3532. doi: 10.3390/cancers15133532. Cancers (Basel). 2023. PMID: 37444642 Free PMC article.
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.
Filser M, Schwartz M, Merchadou K, Hamza A, Villy MC, Decees A, Frouin E, Girard E, Caputo SM, Renault V, Becette V, Golmard L, Servant N, Stoppa-Lyonnet D, Delattre O, Colas C, Masliah-Planchon J. Filser M, et al. J Med Genet. 2023 Nov 27;60(12):1206-1209. doi: 10.1136/jmg-2023-109155. J Med Genet. 2023. PMID: 37263769 Free PMC article.
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification.
Goddard J, Castle J, Southworth E, Fletcher A, Crosier S, Martin-Guerrero I, García-Ariza M, Navajas A, Masliah-Planchon J, Bourdeaut F, Dufour C, Ayrault O, Goschzik T, Pietsch T, Sill M, Pfister SM, Rutkowski S, Richardson S, Hill RM, Williamson D, Bailey S, Schwalbe EC, Clifford SC, Hicks D. Goddard J, et al. Acta Neuropathol. 2023 May;145(5):651-666. doi: 10.1007/s00401-023-02566-0. Epub 2023 Apr 4. Acta Neuropathol. 2023. PMID: 37014508 Free PMC article.
In vivo efficacy assessment of the CDK4/6 inhibitor palbociclib and the PLK1 inhibitor volasertib in human chordoma xenografts.
Passeri T, Dahmani A, Masliah-Planchon J, El Botty R, Courtois L, Vacher S, Marangoni E, Nemati F, Roman-Roman S, Adle-Biassette H, Mammar H, Froelich S, Bièche I, Decaudin D. Passeri T, et al. Front Oncol. 2022 Nov 25;12:960720. doi: 10.3389/fonc.2022.960720. eCollection 2022. Front Oncol. 2022. PMID: 36505864 Free PMC article.
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Schwartz M, Ibadioune S, Vacher S, Villy MC, Trabelsi-Grati O, Le Gall J, Caputo SM, Delhomelle H, Warcoin M, Moncoutier V, Bourneix C, Boutry-Kryza N, De Pauw A, Stern MH, Buecher B, Mouret-Fourme E, Colas C, Stoppa-Lyonnet D, Masliah-Planchon J, Golmard L, Bieche I. Schwartz M, et al. Breast. 2024 Feb;73:103620. doi: 10.1016/j.breast.2023.103620. Epub 2023 Dec 10. Breast. 2024. PMID: 38096711 Free PMC article.
139 results