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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: sanchez heras ab. 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.
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Seguí N, Mina LB, Lázaro C, Sanz-Pamplona R, Pons T, Navarro M, Bellido F, López-Doriga A, Valdés-Mas R, Pineda M, Guinó E, Vidal A, Soto JL, Caldés T, Durán M, Urioste M, Rueda D, Brunet J, Balbín M, Blay P, Iglesias S, Garré P, Lastra E, Sánchez-Heras AB, Valencia A, Moreno V, Pujana MÁ, Villanueva A, Blanco I, Capellá G, Surrallés J, Puente XS, Valle L. Seguí N, et al. Gastroenterology. 2015 Sep;149(3):563-6. doi: 10.1053/j.gastro.2015.05.056. Epub 2015 Jun 5. Gastroenterology. 2015. PMID: 26052075 Free article.
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Castillejo A, Vargas G, Castillejo MI, Navarro M, Barberá VM, González S, Hernández-Illán E, Brunet J, Ramón y Cajal T, Balmaña J, Oltra S, Iglesias S, Velasco A, Solanes A, Campos O, Sánchez Heras AB, Gallego J, Carrasco E, González Juan D, Segura A, Chirivella I, Juan MJ, Tena I, Lázaro C, Blanco I, Pineda M, Capellá G, Soto JL. Castillejo A, et al. Eur J Cancer. 2014 Sep;50(13):2241-50. doi: 10.1016/j.ejca.2014.05.022. Epub 2014 Jun 18. Eur J Cancer. 2014. PMID: 24953332
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. 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: sanchez heras ab. 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.
Recurrent testicular germ cell tumors in a family with MYH-associated polyposis.
Castillejo A, Sanchez-Heras AB, Jover R, Castillejo MI, Guarinos C, Oltra S, Martínez-Canto A, Barbera VM, Laforga J, Paya A, Alenda C, Soto JL. Castillejo A, et al. J Clin Oncol. 2012 Aug 10;30(23):e216-7. doi: 10.1200/JCO.2012.41.5992. Epub 2012 Jun 18. J Clin Oncol. 2012. PMID: 22711856 No abstract available.
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. Cancers (Basel). 2020 Nov 5;12(11):3277. doi: 10.3390/cancers12113277. Cancers (Basel). 2020. PMID: 33167498 Free PMC article.
SEOM clinical guideline on hereditary colorectal cancer (2019).
Guillén-Ponce C, Lastra E, Lorenzo-Lorenzo I, Martín Gómez T, Morales Chamorro R, Sánchez-Heras AB, Serrano R, Soriano Rodríguez MC, Soto JL, Robles L. Guillén-Ponce C, et al. Clin Transl Oncol. 2020 Feb;22(2):201-212. doi: 10.1007/s12094-019-02272-y. Epub 2020 Jan 24. Clin Transl Oncol. 2020. PMID: 31981079 Free article.
Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.
Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Castillejo A, et al. BMC Med Genet. 2011 Jan 19;12:12. doi: 10.1186/1471-2350-12-12. BMC Med Genet. 2011. PMID: 21247423 Free PMC article.
34 results