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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.
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
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.
Germline CDH1 G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden.
Figueiredo J, Mercadillo F, Melo S, Barroso A, Gonçalves M, Díaz-Tasende J, Carneiro P, Robles L, Colina F, Ibarrola C, Perea J, Morais-de-Sá E, Seruca R, Urioste M. Figueiredo J, et al. Among authors: mercadillo f. Cancers (Basel). 2021 Aug 28;13(17):4359. doi: 10.3390/cancers13174359. Cancers (Basel). 2021. PMID: 34503169 Free PMC article.
18 results