Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

36 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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
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.
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.
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. 2024 Nov 21;27(2):101334. doi: 10.1016/j.gim.2024.101334. Online ahead of print. Genet Med. 2024. 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. 2024 Dec 28:noae279. doi: 10.1093/neuonc/noae279. Online ahead of print. Neuro Oncol. 2024. PMID: 39731757
MSH3: a confirmed predisposing gene for adenomatous polyposis.
Villy MC, Masliah-Planchon J, Schnitzler A, Delhomelle H, Buecher B, Filser M, Merchadou K, Golmard L, Melaabi S, Vacher S, Blanluet M, Suybeng V, Corsini C, Dhooge M, Hamzaoui N, Farelly S, Ait Omar A, Benamouzig R, Caumette V, Bahuau M, Cucherousset J, Allory Y, Stoppa-Lyonnet D, Bieche I, Colas C. Villy MC, et al. Among authors: filser m. J Med Genet. 2023 Nov 27;60(12):1198-1205. doi: 10.1136/jmg-2023-109341. J Med Genet. 2023. PMID: 37402566
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.
Buffet A, Filser M, Bruel A, Dard R, Quibel T, Dubucs C, Kwon T, Le Tanno P, Thevenon J, Ziegler A, Allard L, Guigonis V, Roux JJ, Heidet L, Rougeulle C, Boyer O, Vargas-Poussou R, Hureaux M. Buffet A, et al. Among authors: filser m. Genet Med. 2024 Jul 20;27(2):101217. doi: 10.1016/j.gim.2024.101217. Online ahead of print. Genet Med. 2024. PMID: 39036894
36 results