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Page 1
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F. Guerrini-Rousseau L, et al. Among authors: filser m. Neurooncol Adv. 2024 May 15;6(1):vdae075. doi: 10.1093/noajnl/vdae075. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38962751 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.
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. Among authors: filser m. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12929. doi: 10.1111/nan.12929. Neuropathol Appl Neurobiol. 2023. PMID: 37524406
Brain metastasis of a urothelial neuroendocrine carcinoma: A double pitfall for neuropathologists and DNA-methylation profiling.
Tauziède-Espariat A, Masliah-Planchon J, Tran S, Filser M, Saffroy R, Bochaton D, Hasty L, Senova S, Kauv P, Mokhtari K, Adam C, Poté N, Chrétien F, Métais A, Varlet P, Bielle F, Laurenge A. Tauziède-Espariat A, et al. Among authors: filser m. Neuropathol Appl Neurobiol. 2024 Feb;50(1):e12951. doi: 10.1111/nan.12951. Neuropathol Appl Neurobiol. 2024. PMID: 38124282 No abstract available.
Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.
Thomson G, Filser M, Guerrini-Rousseau L, Tauziede-Espariat A, Bourneix C, Gauthier-Villars M, Simaga F, Beccaria K, Faure-Conter C, Maureille A, Zattara-Cannoni H, Andre N, Entz-Werle N, Brugieres L, Mansuy L, Denizeau P, Julia S, Ingster O, Lejeune S, Brahimi A, Coupier I, Bonadona V, Delattre O, Masliah-Planchon J, Bourdeaut F. Thomson G, et al. Among authors: filser m. Neuro Oncol. 2024 Nov 4;26(11):2102-2112. doi: 10.1093/neuonc/noae122. Neuro Oncol. 2024. PMID: 39093628 Free PMC article.
A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Boulouadnine B, Filser M, Leducq C, Losole T, Bies J, Smetsers S, Kouwenberg D, de Lange I, Mensenkamp A, Kordes UR, Minard-Colin V, Orbach D, Brichard B, de Krijger R, Masliah-Planchon J, Demoulin JB. Boulouadnine B, et al. Among authors: filser m. Genet Med. 2025 Feb;27(2):101334. doi: 10.1016/j.gim.2024.101334. Epub 2024 Nov 21. Genet Med. 2025. PMID: 39580648
Nanopore sequencing as a cutting-edge technology for medulloblastoma classification.
Filser M, Torrejon J, Merchadou K, Dufour C, Girard E, Bourneix C, Lemaître E, Gharsalli T, Brillet R, Wong J, Gentien D, Rapinat A, Servant N, Vasiljevic A, Bertozzi AI, Raimbault S, Tauziede Espariat A, Lhermitte B, Faure-Conter C, Icher C, Berger C, Maurage CA, Bodet D, Meyronet D, Uro-Coste E, De Carli E, Forest F, Palenzuela G, Chotard G, Gauchotte G, Sudour H, Mansuy L, Deparis M, Tallegas M, Faisant M, Entz-Werle N, Varlet P, Leblond P, Michalak-Provost S, Proust Houdemont S, Rigau V, Doz F, Delattre O, Bourdeaut F, Ayrault O, Masliah-Planchon J. Filser M, et al. Neuro Oncol. 2025 Jun 21;27(5):1313-1324. doi: 10.1093/neuonc/noae279. Neuro Oncol. 2025. PMID: 39731757 Free PMC article.
SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition.
Cyrta J, Masliah-Planchon J, Hoare O, Brillet R, Andrianteranagna M, Sohier P, Cardoen L, Bouchoucha Y, Filser M, Goncalves A, Caly M, Fréneaux P, Stefanaki K, Pefkianaki M, Moschovi M, Matet A, Cassoux N, Lumbroso-Le Rouic L, Gauthier-Villars M, Stern MH, Vincent-Salomon A, Rodrigues M, Bourdeaut F. Cyrta J, et al. Among authors: filser m. J Pathol. 2025 Mar;265(3):357-371. doi: 10.1002/path.6390. Epub 2025 Jan 23. J Pathol. 2025. PMID: 39853675 Free PMC article.
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.
Fiorica PN, Golmard L, Kim J, Bao R, Lin FY, Roy A, Pribnow A, Perrino MR, Masliah-Planchon J, Michalak-Provost S, Wong J, Filser M, Stoppa-Lyonnet D, Bourdeaut F, Brahimi A, Ingster O, Saulnier Sholler G, Jackson SA, Sasaki MM, Fowler T, Ng A, Corbett RJ, Kaufman RS, Haley JS, Carey DJ, Huang KL, Diskin SJ, Rokita JL, Al-Kateb H, McGee RB, Schiffman JD, Chen KS, Stewart DR, Williams Parsons D, Plon SE, Schultz KAP, Onel K. Fiorica PN, et al. Among authors: filser m. Clin Cancer Res. 2025 Apr 14;31(8):1491-1503. doi: 10.1158/1078-0432.CCR-24-2785. Clin Cancer Res. 2025. PMID: 39992227 Free PMC article.
ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital.
Tauziède-Espariat A, Roux A, Benzakoun J, Kauv P, Tazi S, Métais A, Suwala AK, Hinz F, Hasty L, Filser M, Masliah-Planchon J, Saffroy R, Bucau M, Pallud J, Varlet P. Tauziède-Espariat A, et al. Among authors: filser m. Acta Neuropathol Commun. 2025 Jun 13;13(1):131. doi: 10.1186/s40478-025-02044-6. Acta Neuropathol Commun. 2025. PMID: 40514723 Free PMC article.
44 results