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Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.
Ruiz-Llorente S, Montero-Conde C, Milne RL, Moya CM, Cebrián A, Letón R, Cascón A, Mercadillo F, Landa I, Borrego S, Pérez de Nanclares G, Alvarez-Escolá C, Díaz-Pérez JA, Carracedo A, Urioste M, González-Neira A, Benítez J, Santisteban P, Dopazo J, Ponder BA, Robledo M; Medullary Thyroid Carcinoma Clinical Group. Ruiz-Llorente S, et al. Among authors: mercadillo f. Cancer Res. 2007 Oct 1;67(19):9561-7. doi: 10.1158/0008-5472.CAN-07-1638. Cancer Res. 2007. PMID: 17909067
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. Pena-Couso L, et al. Among authors: mercadillo f. Orphanet J Rare Dis. 2022 Feb 28;17(1):85. doi: 10.1186/s13023-021-02079-7. Orphanet J Rare Dis. 2022. PMID: 35227301 Free PMC article.
Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A. Benito-Sánchez B, et al. Among authors: mercadillo f. Sci Rep. 2022 May 20;12(1):8547. doi: 10.1038/s41598-022-12480-2. Sci Rep. 2022. PMID: 35595798 Free PMC article.
Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.
Villarroya-Beltri C, Osorio A, Torres-Ruiz R, Gómez-Sánchez D, Trakala M, Sánchez-Belmonte A, Mercadillo F, Hurtado B, Pitarch B, Hernández-Núñez A, Gómez-Caturla A, Rueda D, Perea J, Rodríguez-Perales S, Malumbres M, Urioste M. Villarroya-Beltri C, et al. Among authors: mercadillo f. Sci Adv. 2022 Nov 4;8(44):eabq5914. doi: 10.1126/sciadv.abq5914. Epub 2022 Nov 2. Sci Adv. 2022. PMID: 36322655 Free PMC article.
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.
Pena-Couso L, Perea J, Melo S, Mercadillo F, Figueiredo J, Sanches JM, Sánchez-Ruiz A, Robles L, Seruca R, Urioste M. Pena-Couso L, et al. Among authors: mercadillo f. Eur J Hum Genet. 2018 Sep;26(9):1348-1353. doi: 10.1038/s41431-018-0173-8. Epub 2018 May 16. Eur J Hum Genet. 2018. PMID: 29769627 Free PMC article.
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