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Page 1
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles.
Salgado CM, Alaggio R, Ciolfi A, Zin A, Diomedi Camassei F, Pedace L, Milano GM, Serra A, Di Giannatale A, Mastronuzzi A, Gianatti A, Bisogno G, Ferrari A, Tartaglia M, Reyes-Múgica M, Locatelli F, Miele E. Salgado CM, et al. Among authors: tartaglia m. Mod Pathol. 2023 Feb;36(2):100039. doi: 10.1016/j.modpat.2022.100039. Epub 2023 Jan 10. Mod Pathol. 2023. PMID: 36853789 Free article.
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
Zuntini R, Cattani C, Pedace L, Miele E, Caraffi SG, Gardini S, Ficarelli E, Pizzi S, Radio FC, Barone A, Piana S, Bertolini P, Corradi D, Marinelli M, Longo C, Motolese A, Zuffardi O, Tartaglia M, Garavelli L. Zuntini R, et al. Among authors: tartaglia m. Front Genet. 2023 Aug 10;14:1231434. doi: 10.3389/fgene.2023.1231434. eCollection 2023. Front Genet. 2023. PMID: 37636262 Free PMC article.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Arfeuille C, Vial Y, Cadenet M, Caye-Eude A, Fenneteau O, Neven Q, Bonnard AA, Pizzi S, Carpentieri G, Capri Y, Girardi K, Pedace L, Macchiaiolo M, Boudhar K, Khaled MB, Chahla WA, Lutun A, Fahd M, Drunat S, Flex E, Dalle JH, Strullu M, Locatelli F, Tartaglia M, Cavé H. Arfeuille C, et al. Among authors: tartaglia m. Haematologica. 2023 Nov 16. doi: 10.3324/haematol.2023.283917. Online ahead of print. Haematologica. 2023. PMID: 37981895 Free article.
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.
Patrizi S, Miele E, Falcone L, Vallese S, Rossi S, Barresi S, Giovannoni I, Pedace L, Nardini C, Masier I, Abballe L, Cacchione A, Russo I, Di Giannatale A, Di Ruscio V, Salgado CM, Mastronuzzi A, Ciolfi A, Tartaglia M, Milano GM, Locatelli F, Alaggio R. Patrizi S, et al. Among authors: tartaglia m. Clin Epigenetics. 2024 Jan 4;16(1):9. doi: 10.1186/s13148-023-01621-7. Clin Epigenetics. 2024. PMID: 38178234 Free PMC article.
Clinicopathological and molecular landscape of 5-year IDH-wild-type glioblastoma survivors: A multicentric retrospective study.
Miele E, Anghileri E, Calatozzolo C, Lazzarini E, Patrizi S, Ciolfi A, Pedace L, Patanè M, Abballe L, Paterra R, Maddaloni L, Barresi S, Mastronuzzi A, Petruzzi A, Tramacere I, Farinotti M, Gurrieri L, Pirola E, Scarpelli M, Lombardi G, Villani V, Simonelli M, Merli R, Salmaggi A, Tartaglia M, Silvani A, DiMeco F, Calistri D, Lamperti E, Locatelli F, Indraccolo S, Pollo B. Miele E, et al. Among authors: tartaglia m. Cancer Lett. 2024 Apr 28;588:216711. doi: 10.1016/j.canlet.2024.216711. Epub 2024 Feb 27. Cancer Lett. 2024. PMID: 38423245
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.
Pedace L, Pizzi S, Abballe L, Vinci M, Antonacci C, Patrizi S, Nardini C, Del Bufalo F, Rossi S, Pericoli G, Gianno F, Besharat ZM, Tiberi L, Mastronuzzi A, Ferretti E, Tartaglia M, Locatelli F, Ciolfi A, Miele E. Pedace L, et al. Among authors: tartaglia m. NPJ Precis Oncol. 2024 Apr 18;8(1):92. doi: 10.1038/s41698-024-00578-x. NPJ Precis Oncol. 2024. PMID: 38637626 Free PMC article.
Reversing vemurafenib-resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
Fragale A, Stellacci E, Romagnoli G, Licursi V, Parlato S, Canini I, Remedi G, Buoncervello M, Matarrese P, Pedace L, Ascione B, Pizzi S, Tartaglia M, D'Atri S, Presutti C, Capone I, Gabriele L. Fragale A, et al. Among authors: tartaglia m. Int J Cancer. 2023 Sep 1;153(5):1080-1095. doi: 10.1002/ijc.34602. Epub 2023 Jun 9. Int J Cancer. 2023. PMID: 37293858
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: tartaglia m. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
828 results