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Page 1
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Verloes A, et al. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052316 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.
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.
Molecular characterisation of tumours of the lacrimal apparatus.
Vibert R, Cyrta J, Girard E, Vacher S, Dupain C, Antonio S, Wong J, Baulande S, De Sousa JMF, Vincent-Salomon A, Masliah-Planchon J, Girard N, Le Tourneau C, Kamal M, Bièche I. Vibert R, et al. Histopathology. 2023 Dec;83(6):925-935. doi: 10.1111/his.15040. Epub 2023 Sep 14. Histopathology. 2023. PMID: 37706251
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.
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.
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
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Villy MC, Warcoin M, Filser M, Buecher B, Golmard L, Suybeng V, Schwartz M, Bieche I, Vacher S, Laurence V, Bourdeaut F, Bernier M, Gutman T, Stoppa-Lyonnet D, Masliah-Planchon J, Colas C. Villy MC, et al. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12929. doi: 10.1111/nan.12929. Neuropathol Appl Neurobiol. 2023. PMID: 37524406
137 results