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American Journal of Medical Genetics. Part A|June 11, 2022
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variantRoberto Paparella, Anna Maria Caroleo, Emanuele Agolini, et al.Pharmacological Research|May 11, 2025
Age-linked DNA methylation and gene expression patterns in parameningeal head and neck alveolar rhabdomyosarcoma reveal CDK9 as a promising therapeutic targetSara Patrizi, Silvia Vallese, Sabina Barresi, et al.Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 28, 2023
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation ProfilesClaudia M Salgado, Rita Alaggio, Andrea Ciolfi, et al.Frontiers in Genetics|August 28, 2023
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 transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.The Journal of Pathology|February 18, 2026
High-grade endometrial stromal sarcoma is closely related to BCOR-altered sarcomas of the soft tissue and kidney rather than to other uterine sarcomas: implications for uterine sarcoma classificationDamiano Arciuolo, Sara Patrizi, Rita Alaggio, et al.NPJ Precision Oncology|April 18, 2024
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profilingLucia Pedace, Simone Pizzi, Luana Abballe, et al.Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|June 16, 2024
Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase-Related Mesenchymal TumorsSilvia Vallese, Sabina Barresi, Laura Hiemcke-Jiwa, et al.Frontiers in Oncology|June 3, 2026
Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinomaSelene Cipri, Antonella Cacchione, Annalisa Serra, et al.Clinical Epigenetics|January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureAndrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.Discover Oncology|November 25, 2025
Epigenomic characterization and therapeutic challenges of melanoma arising in giant nevi in pediatric patientsEvelina Miele, Sabrina Rossi, Alessandra Stracuzzi, et al.Pageof 5