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Genetic predisposition to polyposis syndromes.
Clin Transl Oncol. 2025 Jan 10. doi: 10.1007/s12094-024-03825-6. Online ahead of print.
Clin Transl Oncol. 2025.
PMID: 39794684
Review.
Optimizing genetic testing strategy for suspected attenuated adenomatous polyposis: effective solutions in public health systems.
García-Simón N, Valentín F, Royuela A, Hidalgo-Calero B, Blázquez-Martín R, de-Miguel-Reyes M, Sánchez-Zapardiel JM, Adán-Merino L, Rodríguez-Festa A, Gallego-Gil P, Mediavilla-Medel P, Quiñonero-Moreno L, Gutiérrez L, Herreros-de-Tejada A, Sánchez A, Provencio M, Romero A.
García-Simón N, et al.
Clin Transl Oncol. 2024 Dec 11. doi: 10.1007/s12094-024-03811-y. Online ahead of print.
Clin Transl Oncol. 2024.
PMID: 39661238
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The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.
Valentín F, de Tejada AH, Gonzaléz-Vioque E, García-Simón N, Sánchez A, Romero A.
Valentín F, et al. Among authors: garcia simon n.
Mol Genet Genomic Med. 2024 Jan;12(1):e2348. doi: 10.1002/mgg3.2348. Epub 2023 Dec 25.
Mol Genet Genomic Med. 2024.
PMID: 38146137
Free PMC article.
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ctDNA from body fluids is an adequate source for EGFR biomarker testing in advanced lung adenocarcinoma.
Pérez-Barrios C, Sánchez-Herrero E, Garcia-Simón N, Barquín M, Clemente MB, Provencio M, Romero A.
Pérez-Barrios C, et al. Among authors: garcia simon n.
Clin Chem Lab Med. 2021 Mar 11;59(7):1221-1229. doi: 10.1515/cclm-2020-1465. Print 2021 Jun 25.
Clin Chem Lab Med. 2021.
PMID: 33691348
Free article.
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