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Page 1
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: robles l. 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.
Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
Pineda M, González-Acosta M, Thompson BA, Sánchez R, Gómez C, Martínez-López J, Perea J, Caldés T, Rodríguez Y, Landolfi S, Balmaña J, Lázaro C, Robles L, Capellá G, Rueda D. Pineda M, et al. Among authors: robles l. Clin Genet. 2015 Jun;87(6):543-8. doi: 10.1111/cge.12467. Epub 2014 Sep 16. Clin Genet. 2015. PMID: 25060679
Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.
Alonso N, Cañueto J, Ciria S, Bueno E, Palacios-Alvarez I, Alegre M, Badenas C, Barreiro A, Pena L, Maldonado C, Nespeira-Jato MV, Peña-Penabad C, Azon A, Gavrilova M, Ferrer I, Sanmartin O, Robles L, Hernandez-Martin A, Urioste M, Puig S, Puig L, Gonzalez-Sarmiento R. Alonso N, et al. Among authors: robles l. Br J Dermatol. 2018 Jan;178(1):198-206. doi: 10.1111/bjd.15835. Epub 2017 Dec 22. Br J Dermatol. 2018. PMID: 28733979
Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.
Santos M, Lanillos J, Roldan-Romero JM, Caleiras E, Montero-Conde C, Cascón A, Climent MA, Anguera G, Hernando S, Laínez N, Robledo M, Robles L, de Velasco G, García-Donas J, Rodriguez-Antona C. Santos M, et al. Among authors: robles l. Genet Med. 2021 Apr;23(4):698-704. doi: 10.1038/s41436-020-01062-0. Epub 2021 Jan 13. Genet Med. 2021. PMID: 33442023 Free 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: robles l. Cancers (Basel). 2021 Aug 28;13(17):4359. doi: 10.3390/cancers13174359. Cancers (Basel). 2021. PMID: 34503169 Free PMC article.
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. 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.
Mammographic density and breast cancer in women from high risk families.
Ramón Y Cajal T, Chirivella I, Miranda J, Teule A, Izquierdo Á, Balmaña J, Sánchez-Heras AB, Llort G, Fisas D, Lope V, Hernández-Agudo E, Juan-Fita MJ, Tena I, Robles L, Guillén-Ponce C, Pérez-Segura P, Luque-Molina MS, Hernando-Polo S, Salinas M, Brunet J, Salas-Trejo MD, Barnadas A, Pollán M. Ramón Y Cajal T, et al. Among authors: robles l. Breast Cancer Res. 2015 Jul 11;17(1):93. doi: 10.1186/s13058-015-0604-1. Breast Cancer Res. 2015. PMID: 26163143 Free PMC article.
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.
Sánchez-Heras AB, Castillejo A, García-Díaz JD, Robledo M, Teulé A, Sánchez R, Zúñiga Á, Lastra E, Durán M, Llort G, Yagüe C, Ramon Y Cajal T, López San Martin C, López-Fernández A, Balmaña J, Robles L, Mesa-Latorre JM, Chirivella I, Fonfria M, Perea Ibañez R, Castillejo MI, Escandell I, Gomez L, Berbel P, Soto JL. Sánchez-Heras AB, et al. Among authors: robles l. Cancers (Basel). 2020 Nov 5;12(11):3277. doi: 10.3390/cancers12113277. Cancers (Basel). 2020. PMID: 33167498 Free PMC article.
236 results