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Page 1
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.
Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, Vidaud M; NF France Network. Pasmant E, et al. J Natl Cancer Inst. 2011 Nov 16;103(22):1713-22. doi: 10.1093/jnci/djr416. Epub 2011 Oct 27. J Natl Cancer Inst. 2011. PMID: 22034633
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.
A sellar presentation of a WNT-activated embryonal tumor: further evidence of an ectopic medulloblastoma.
Tauziède-Espariat A, Simbozel M, Liu APY, Robinson GW, Masliah-Planchon J, Sievers P, Vasiljevic A, Duchesne M, Puget S, Dangouloff-Ros V, Boddaert N, Métais A, Hasty L, Dufour C, Varlet P. Tauziède-Espariat A, et al. Acta Neuropathol Commun. 2023 Apr 3;11(1):58. doi: 10.1186/s40478-023-01556-3. Acta Neuropathol Commun. 2023. PMID: 37013660 Free PMC article. No abstract available.
Imaging and multi-omics datasets converge to define different neural progenitor origins for ATRT-SHH subgroups.
Lobón-Iglesias MJ, Andrianteranagna M, Han ZY, Chauvin C, Masliah-Planchon J, Manriquez V, Tauziede-Espariat A, Turczynski S, Bouarich-Bourimi R, Frah M, Dufour C, Blauwblomme T, Cardoen L, Pierron G, Maillot L, Guillemot D, Reynaud S, Bourneix C, Pouponnot C, Surdez D, Bohec M, Baulande S, Delattre O, Piaggio E, Ayrault O, Waterfall JJ, Servant N, Beccaria K, Dangouloff-Ros V, Bourdeaut F. Lobón-Iglesias MJ, et al. Nat Commun. 2023 Oct 20;14(1):6669. doi: 10.1038/s41467-023-42371-7. Nat Commun. 2023. PMID: 37863903 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.
Metastatic Malignant Perivascular Epithelioid Cell Tumors With Microsatellite Instability Within Lynch Syndrome Successfully Treated With Anti-PD1 Pembrolizumab.
Djerroudi L, Masliah-Planchon J, Brisse HJ, El Zein S, Helfre S, Tzanis D, Hamzaoui N, Bonnet C, Laurence V, Bonvalot S, Watson S. Djerroudi L, et al. JCO Precis Oncol. 2023 Jan;7:e2200627. doi: 10.1200/PO.22.00627. JCO Precis Oncol. 2023. PMID: 36716416 Free PMC article. No abstract available.
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.
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Hendrikse LD, Haldipur P, Saulnier O, Millman J, Sjoboen AH, Erickson AW, Ong W, Gordon V, Coudière-Morrison L, Mercier AL, Shokouhian M, Suárez RA, Ly M, Borlase S, Scott DS, Vladoiu MC, Farooq H, Sirbu O, Nakashima T, Nambu S, Funakoshi Y, Bahcheli A, Diaz-Mejia JJ, Golser J, Bach K, Phuong-Bao T, Skowron P, Wang EY, Kumar SA, Balin P, Visvanathan A, Lee JJY, Ayoub R, Chen X, Chen X, Mungall KL, Luu B, Bérubé P, Wang YC, Pfister SM, Kim SK, Delattre O, Bourdeaut F, Doz F, Masliah-Planchon J, Grajkowska WA, Loukides J, Dirks P, Fèvre-Montange M, Jouvet A, French PJ, Kros JM, Zitterbart K, Bailey SD, Eberhart CG, Rao AAN, Giannini C, Olson JM, Garami M, Hauser P, Phillips JJ, Ra YS, de Torres C, Mora J, Li KKW, Ng HK, Poon WS, Pollack IF, López-Aguilar E, Gillespie GY, Van Meter TE, Shofuda T, Vibhakar R, Thompson RC, Cooper MK, Rubin JB, Kumabe T, Jung S, Lach B, Iolascon A, Ferrucci V, de Antonellis P, Zollo M, Cinalli G, Robinson S, Stearns DS, Van Meir EG, Porrati P, Finocchiaro G, Massimino M, Carlotti CG, Faria CC, Roussel MF, Boop F, Chan JA, Aldinger KA, Razavi F, Silvestri E, McLendon RE, Thompson EM, Ansari M, Garre ML, Chico F, Eguía P, Pérezpeña M, Morrissy AS, Cavalli… See abstract for full author list ➔ Hendrikse LD, et al. Nature. 2022 Dec;612(7940):E12. doi: 10.1038/s41586-022-05578-0. Nature. 2022. PMID: 36446943 Free PMC article. No abstract available.
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.
128 results