Zobrazeno 1 - 10
of 1 495
pro vyhledávání: '"Copy number analysis"'
Autor:
Letícia Martins Guimarães, Daniel Baumhoer, Vanghelita Andrei, Dennis Friedel, Christian Koelsche, Ricardo Santiago Gomez, Andreas von Deimling, Carolina Cavalieri Gomes
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 9, Iss 6, Pp 464-474 (2023)
Abstract Sporadic giant cell granulomas (GCGs) of the jaws and cherubism‐associated giant cell lesions share histopathological features and microscopic diagnosis alone can be challenging. Additionally, GCG can morphologically closely resemble other
Externí odkaz:
https://doaj.org/article/e3ab16ac9e2d48978958b240ef833eeb
Publikováno v:
Advanced Science, Vol 10, Iss 27, Pp n/a-n/a (2023)
Abstract Digital PCR (dPCR) is an important tool for precise nucleic acid quantification in clinical setting, but the limited multiplexing capability restricts its applications for quantitative gene panel profiling. Here, this work describes melt‐e
Externí odkaz:
https://doaj.org/article/0535cdf19bfe4f548119c8094a1b727e
Autor:
Saga Elise Eiset, Mikkel Funding, Hilary Racher, Steffen Heegaard, Brenda Gallie, Steen Fiil Urbak, Pernille A. Gregersen
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract The clinical course of trilateral retinoblastoma can be unpredictable, and expressivity of germline RB1 variants may vary during development. We describe an unexpected fatal case of trilateral retinoblastoma with an intracranial tumor in an
Externí odkaz:
https://doaj.org/article/30e60e3fcee347a8b0e343b789d35d8c
Autor:
Esther H. Lips, Anne Benard-Slagter, Mark Opdam, Caroline E. Scheerman, Jelle Wesseling, Frans B. L. Hogervorst, Sabine C. Linn, Suvi Savola, Petra M. Nederlof
Publikováno v:
Breast Cancer Research, Vol 22, Iss 1, Pp 1-12 (2020)
Abstract Background We previously showed that BRCA-like profiles can be used to preselect individuals with the highest risk of carrying BRCA mutations but could also indicate which patients would benefit from double-strand break inducing chemotherapy
Externí odkaz:
https://doaj.org/article/80a0d3ee97954d7c860270878592b294
Autor:
Alfredo Rivas-Delgado, Ferran Nadeu, Marcio Andrade-Campos, Cristina López, Anna Enjuanes, Pablo Mozas, Gerard Frigola, Luis Colomo, Blanca Sanchez-Gonzalez, Neus Villamor, Sílvia Beà, Elías Campo, Antonio Salar, Eva Giné, Armando López-Guillermo, Beatriz Bellosillo
Publikováno v:
Diagnostics, Vol 12, Iss 7, p 1575 (2022)
High-throughput sequencing of cell-free DNA (cfDNA) has emerged as a promising noninvasive approach in lymphomas, being particularly useful when a biopsy specimen is not available for molecular analysis, as it frequently occurs in primary mediastinal
Externí odkaz:
https://doaj.org/article/674dc2c28bba430ca7def65f18d3bd0b
Akademický článek
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Publikováno v:
BMC Bioinformatics, Vol 18, Iss 1, Pp 1-10 (2017)
Abstract Background Somatic alterations, including loss of heterozygosity, can affect the expression of oncogenes and tumor suppressor genes. Whole genome sequencing enables detailed characterization of such aberrations. However, due to the limitatio
Externí odkaz:
https://doaj.org/article/0363e9fdafdb44cd8f8443729afc584f
Autor:
Soo-Ryum Yang, Rowanne S. Spencer, Andrea Cercek, Garrett M. Nash, Jacklynn V. Egger, William D. Travis, Mark G. Kris, Gowtham Jayakumaran, Jennifer L. Sauter, Jessica Lopardo, Marjorie G. Zauderer, M. Offin, Marc Ladanyi
Publikováno v:
Journal of Thoracic Oncology. 17:455-460
Background Malignant peritoneal mesothelioma (MPeM) is clinically distinct and less studied than malignant pleural mesothelioma. We report the genomic and immunophenotypic features of a prospectively collected MPeM cohort. Methods Next-generation seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d292e357222186cbe10e722c21ea329
https://doi.org/10.1016/j.jtho.2021.09.012
https://doi.org/10.1016/j.jtho.2021.09.012
Autor:
Weeber, Fleur, van de Wetering, Marc, Hoogstraat, Marlous, Dijkstra, Krijn K., Krijgsman, Oscar, Kuilman, Thomas, Gadellaa-van Hooijdonk, Christa G. M., van der Velden, Daphne L., Peeper, Daniel S., Cuppen, Edwin P. J. G., Vries, Robert G., Clevers, Hans, Voest, Emile E.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2015 Oct . 112(43), 13308-13311.
Externí odkaz:
https://www.jstor.org/stable/26465771
Akademický článek
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