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Year Number of Results
1949 2
1983 1
1984 1
1989 1
1993 1
1994 1
1995 2
1996 1
1997 1
1998 2
1999 1
2001 3
2004 1
2005 3
2006 1
2007 2
2009 6
2010 4
2011 3
2012 6
2013 9
2014 7
2015 6
2016 5
2017 8
2018 4
2019 6
2020 6
2021 3
2022 6
2023 5
2024 8
2025 0

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103 results

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Page 1
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Impact of Finerenone-Induced Albuminuria Reduction on Chronic Kidney Disease Outcomes in Type 2 Diabetes : A Mediation Analysis.
Agarwal R, Tu W, Farjat AE, Farag YMK, Toto R, Kaul S, Lawatscheck R, Rohwedder K, Ruilope LM, Rossing P, Pitt B, Filippatos G, Anker SD, Bakris GL; FIDELIO-DKD and FIGARO-DKD Investigators. Agarwal R, et al. Ann Intern Med. 2023 Dec;176(12):1606-1616. doi: 10.7326/M23-1023. Epub 2023 Dec 5. Ann Intern Med. 2023. PMID: 38048573 Clinical Trial.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Garcia-Pelaez J, et al. Among authors: soto jl. Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. Lancet Oncol. 2023. PMID: 36436516 Free PMC article.
Outcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.
Sarafidis P, Agarwal R, Pitt B, Wanner C, Filippatos G, Boletis J, Tuttle KR, Ruilope LM, Rossing P, Toto R, Anker SD, Liu ZH, Joseph A, Ahlers C, Brinker M, Lawatscheck R, Bakris G; FIDELIO-DKD and FIGARO-DKD Investigators. Sarafidis P, et al. Clin J Am Soc Nephrol. 2023 May 1;18(5):602-612. doi: 10.2215/CJN.0000000000000149. Epub 2023 Apr 7. Clin J Am Soc Nephrol. 2023. PMID: 36927680 Free PMC article. Clinical Trial.
Lynch-like Syndrome: Potential Mechanisms and Management.
Martínez-Roca A, Giner-Calabuig M, Murcia O, Castillejo A, Soto JL, García-Heredia A, Jover R. Martínez-Roca A, et al. Among authors: soto jl. Cancers (Basel). 2022 Feb 22;14(5):1115. doi: 10.3390/cancers14051115. Cancers (Basel). 2022. PMID: 35267422 Free PMC article. Review.
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
Andrianova MA, Seplyarskiy VB, Terradas M, Sánchez-Heras AB, Mur P, Soto JL, Aiza G, Borràs E, Kondrashov FA, Kondrashov AS, Bazykin GA, Valle L. Andrianova MA, et al. Among authors: soto jl. Eur J Hum Genet. 2024 Jul;32(7):837-845. doi: 10.1038/s41431-024-01598-8. Epub 2024 Apr 24. Eur J Hum Genet. 2024. PMID: 38658779 Free PMC article.
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Sánchez-Heras AB, Dámaso E, Castillejo A, Robledo M, Teulé A, Lázaro C, Sánchez-Martínez R, Zúñiga Á, López-Fernández A, Balmaña J, Robles L, Ramon Y Cajal T, Castillejo MI, Ibañez RP, Sevila CM, Sánchez-Mira A, Escandell I, Gómez L, Berbel P, Soto JL. Sánchez-Heras AB, et al. Among authors: soto jl. Orphanet J Rare Dis. 2024 Jan 26;19(1):26. doi: 10.1186/s13023-024-03017-z. Orphanet J Rare Dis. 2024. PMID: 38279137 Free PMC article.
Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium.
Carballal S, Balaguer F, Bujanda L, Capellá G, González Santiago S, Jover R, Moreira L, Pineda M, Ruiz-Ponte C, Sánchez Heras AB, Serrano Blanch R, Soto JL, Vidal Tocino R, Cubiella J; en representación de AEG; SEOM; AEGH y consorcio IMPaCT-Genómica. Carballal S, et al. Among authors: soto jl. Gastroenterol Hepatol. 2024 Mar;47(3):293-318. doi: 10.1016/j.gastrohep.2023.06.004. Epub 2023 Jun 13. Gastroenterol Hepatol. 2024. PMID: 37315767 English, Spanish.
Molecular biology of exocrine pancreatic cancer.
Soto JL, Barbera VM, Saceda M, Carrato A. Soto JL, et al. Clin Transl Oncol. 2006 May;8(5):306-12. doi: 10.1007/s12094-006-0175-9. Clin Transl Oncol. 2006. PMID: 16760004 Review.
103 results