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Backtracking NOM1::ETV6 fusion to neonatal pathogenesis of t(7;12) (q36;p13) infant AML.
Bousquets-Muñoz P, Molina O, Varela I, Álvarez-Eguiluz Á, Fernández-Mateos J, Gómez A, Sánchez EG, Balbín M, Ruano D, Ramírez-Orellana M, Puente XS, Menéndez P, Velasco-Hernandez T. Bousquets-Muñoz P, et al. Among authors: ruano d. Leukemia. 2024 May 28. doi: 10.1038/s41375-024-02293-9. Online ahead of print. Leukemia. 2024. PMID: 38806630 No abstract available.
Germline NPAT inactivating variants as cause of hereditary colorectal cancer.
Terradas M, Schubert SA, Viana-Errasti J, Ruano D, Aiza G, Nielsen M, Marciel P, Tops CM, Parra G, Morreau H, Torrents D, van Leerdam ME, Capellá G, de Miranda NFCC, Valle L, van Wezel T. Terradas M, et al. Among authors: ruano d. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01625-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778081
Clinically-relevant Germline Variants in Children with Non-Medullary Thyroid Cancer.
van der Tuin K, Ruano D, Knijnenburg J, van der Luijt RB, Morreau H, Links TP, Hes FJ; Dutch Pediatric Thyroid cancer consortium. van der Tuin K, et al. Among authors: ruano d. J Clin Endocrinol Metab. 2024 Feb 28:dgae107. doi: 10.1210/clinem/dgae107. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38415346
Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas.
de Haan LM, de Groen RAL, de Groot FA, Noordenbos T, van Wezel T, van Eijk R, Ruano D, Diepstra A, Koens L, Nicolae-Cristea A, Hartog WCED, Terpstra V, Ahsmann E, Dekker TJA, Sijs-Szabo A, Veelken H, Cleven AHG, Jansen PM, Vermaat JSP. de Haan LM, et al. Among authors: ruano d. Virchows Arch. 2023 Oct 18. doi: 10.1007/s00428-023-03676-6. Online ahead of print. Virchows Arch. 2023. PMID: 37851120
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas.
Kramer C, Lanjouw L, Ruano D, Ter Elst A, Santandrea G, Solleveld-Westerink N, Werner N, van der Hout AH, de Kroon CD, van Wezel T, Berger L, Jalving M, Wesseling J, Smit V, de Bock GH, van Asperen CJ, Mourits M, Vreeswijk M, Bart J, Bosse T. Kramer C, et al. Among authors: ruano d. J Pathol. 2024 Feb;262(2):137-146. doi: 10.1002/path.6218. Epub 2023 Oct 18. J Pathol. 2024. PMID: 37850614
157 results