Search Results - "Filser, Mathilde"

First report of medulloblastoma in a patient with MUTYH‐associated polyposis.

Authors: Villy, Marie‐Charlotte Warcoin, Mathilde Filser, Mathilde et al.

Source: Neuropathology & Applied Neurobiology. Aug2023, Vol. 49 Issue 4, p1-7. 7p.

ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital.

Authors: Tauziède-Espariat, Arnault Roux, Alexandre Benzakoun, Joseph et al.

Source: Acta Neuropathologica Communications. 6/13/2025, Vol. 13 Issue 1, p1-10. 10p.

Importance of Sequencing HBA1 , HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.

Authors: Filser, Mathilde Gardie, Betty Wemeau, Mathieu et al.

Source: Genes. Jan2022, Vol. 13 Issue 1, p132. 1p.

Brain metastasis of a urothelial neuroendocrine carcinoma: A double pitfall for neuropathologists and DNA‐methylation profiling.

Authors: Tauziède‐Espariat, Arnault Masliah‐Planchon, Julien Tran, Suzanne et al.

Source: Neuropathology & Applied Neurobiology. Feb2024, Vol. 50 Issue 1, p1-6. 6p.

Spinal and Leptomeningeal Infantile Glioma With Raf1 Fusion: Diagnostic Challenges for a Potentially Novel Tumour Type.

Authors: Tauziède‐Espariat, Arnault Métais, Alice Schieffer, Kathleen et al.

Source: Neuropathology & Applied Neurobiology. Aug2025, Vol. 51 Issue 4, p1-5. 5p.

Coronavirus Disease 2019 Pandemic: Impact Caused by School Closure and National Lockdown on Pediatric Visits and Admissions for Viral and Nonviral Infections—a Time Series Analysis.

Authors: Angoulvant, François Ouldali, Naïm Yang, David Dawei et al.

Source: Clinical Infectious Diseases. 01/15/2021, Vol. 72 Issue 2, p319-322. 4p.

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Authors: Schwartz M Filser M Merchadou K et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Sep 02; Vol. 10 (1), pp. 62. Date of Electronic Publication: 2025 Sep 02.

Publication Type: Published Erratum

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Authors: Schwartz M Filser M Merchadou K et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jul 31; Vol. 10 (1), pp. 58. Date of Electronic Publication: 2025 Jul 31.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Nanopore sequencing as a cutting-edge technology for medulloblastoma classification.

Authors: Filser M Torrejon J Merchadou K et al.

Source: Neuro-oncology [Neuro Oncol] 2025 Jun 21; Vol. 27 (5), pp. 1313-1324.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 100887420 Publication Model: Print Cited Medium: Internet ISSN: 1523-5866 (Electronic) Linking ISSN: 15228517 NLM ISO Abbreviation: Neuro Oncol Subsets: MEDLINE

Extracranial teratoid medulloepithelioma: A pelvic observation with genetic and epigenetic findings.

Authors: Tauziède-Espariat A Khneisser P Berrebi D et al.

Corporate Authors: Tauziède-Espariat A Khneisser P Berrebi D et al.

Source: Virchows Archiv : an international journal of pathology [Virchows Arch] 2026 Mar 12. Date of Electronic Publication: 2026 Mar 12.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 9423843 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2307 (Electronic) Linking ISSN: 09456317 NLM ISO Abbreviation: Virchows Arch Subsets: MEDLINE

SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition.

Authors: Cyrta J Masliah-Planchon J Hoare O et al.

Source: The Journal of pathology [J Pathol] 2025 Mar; Vol. 265 (3), pp. 357-371. Date of Electronic Publication: 2025 Jan 23.

Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley And Sons Country of Publication: England NLM ID: 0204634 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9896 (Electronic) Linking ISSN: 00223417 NLM ISO Abbreviation: J Pathol Subsets: MEDLINE

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.

Authors: Thomson G Filser M Guerrini-Rousseau L et al.

Source: Neuro-oncology [Neuro Oncol] 2024 Nov 04; Vol. 26 (11), pp. 2102-2112.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 100887420 Publication Model: Print Cited Medium: Internet ISSN: 1523-5866 (Electronic) Linking ISSN: 15228517 NLM ISO Abbreviation: Neuro Oncol Subsets: MEDLINE

Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.

Authors: Guerrini-Rousseau L Masliah-Planchon J Filser M et al.

Source: Neuro-oncology advances [Neurooncol Adv] 2024 May 15; Vol. 6 (1), pp. vdae075. Date of Electronic Publication: 2024 May 15 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755003 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-2498 (Electronic) Linking ISSN: 26322498 NLM ISO Abbreviation: Neurooncol Adv Subsets: PubMed not MEDLINE

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.

Authors: Fiorica PN Golmard L Kim J et al.

Source: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2025 Apr 14; Vol. 31 (8), pp. 1491-1503.

Publication Type: Journal Article

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.

Authors: Buffet A Filser M Bruel A et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Feb; Vol. 27 (2), pp. 101217. Date of Electronic Publication: 2024 Jul 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.

Authors: Boulouadnine B Filser M Leducq C et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Feb; Vol. 27 (2), pp. 101334. Date of Electronic Publication: 2024 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

Authors: de Sainte Agathe JM Filser M Isidor B et al.

Source: Human genomics [Hum Genomics] 2023 Feb 10; Vol. 17 (1), pp. 7. Date of Electronic Publication: 2023 Feb 10.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

[Abstracts of the 4th CoBioMe Congress].

Transliterated Title: Résumés du 4^e congrès CoBioMe.

Authors: Brousseau J Bastide M Cadenet M et al.

Source: Annales de biologie clinique [Ann Biol Clin (Paris)] 2021 May-June; Vol. 79 (3), pp. 265-275. Date of Electronic Publication: 2021 Jun 25.

Publication Type: Journal Article

Journal Info: Publisher: John Libbey Eurotext Country of Publication: France NLM ID: 2984690R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6112 (Electronic) Linking ISSN: 00033898 NLM ISO Abbreviation: Ann Biol Clin (Paris) Subsets: MEDLINE; PubMed not MEDLINE

MSH3: a confirmed predisposing gene for adenomatous polyposis.

Authors: Villy MC Masliah-Planchon J Schnitzler A et al.

Source: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1198-1205. Date of Electronic Publication: 2023 Nov 27.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.

Authors: Filser M Schwartz M Merchadou K et al.

Source: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1206-1209. Date of Electronic Publication: 2023 Nov 27.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE