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Page 1
Clinical and Pathological Characterization of Lynch-Like Syndrome.
Picó MD, Castillejo A, Murcia Ó, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Carrillo-Palau M, Ramon Y Cajal T, Gisbert-Beamud A, Llort G, Yagüe C, López-Fernández A, Alvarez-Urturi C, Cubiella J, Rivas L, Rodríguez-Alcalde D, Herraiz M, Garau C, Dolz C, Bujanda L, Cid L, Povés C, Garzon M, Salces I, Ponce M, Hernández-Villalba L, Alenda C, Balaguer F, Soto JL, Jover R. Picó MD, et al. Clin Gastroenterol Hepatol. 2020 Feb;18(2):368-374.e1. doi: 10.1016/j.cgh.2019.06.012. Epub 2019 Jun 17. Clin Gastroenterol Hepatol. 2020. PMID: 31220642 Free article.
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Montalban G, Bonache S, Moles-Fernández A, Gisbert-Beamud A, Tenés A, Bach V, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Diez O, Gutiérrez-Enríquez S. Montalban G, et al. J Med Genet. 2019 Feb;56(2):63-74. doi: 10.1136/jmedgenet-2018-105606. Epub 2018 Nov 24. J Med Genet. 2019. PMID: 30472649
Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome.
Picó MD, Sánchez-Heras AB, Castillejo A, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Llort G, Yagüe C, Ramon Y Cajal T, Gisbert-Beamud A, Cubiella J, Rivas L, Herraiz M, Garau C, Salces I, Carrillo-Palau M, Bujanda L, López-Fernández A, Alvarez-Urturi C, López MJ, Alenda C, Zapater P, Lacueva FJ, Balaguer F, Soto JL, Murcia Ó, Jover R. Picó MD, et al. Cancers (Basel). 2020 Aug 9;12(8):2225. doi: 10.3390/cancers12082225. Cancers (Basel). 2020. PMID: 32784934 Free PMC article.
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.
Sánchez A, Roos VH, Navarro M, Pineda M, Caballol B, Moreno L, Carballal S, Rodríguez-Alonso L, Ramon Y Cajal T, Llort G, Piñol V, López-Fernández A, Salces I, Picó MD, Rivas L, Bujanda L, Garzon M, Pizarro A, Martinez de Castro E, López-Arias MJ, Poves C, Garau C, Rodriguez-Alcalde D, Herraiz M, Alvarez-Urrutia C, Dacal A, Carrillo-Palau M, Cid L, Ponce M, Barreiro-Alonso E, Saperas E, Aguirre E, Romero C, Bastiaansen B, Gonzalez-Acosta M, Morales-Romero B, Ocaña T, Rivero-Sánchez L, Jung G, Bessa X, Cubiella J, Jover R, Rodríguez-Moranta F, Balmaña J, Brunet J, Castells A, Dekker E, Capella G, Serra-Burriel M, Moreira L, Pellise M, Balaguer F. Sánchez A, et al. Clin Gastroenterol Hepatol. 2022 Mar;20(3):611-621.e9. doi: 10.1016/j.cgh.2020.11.002. Epub 2020 Nov 3. Clin Gastroenterol Hepatol. 2022. PMID: 33157315
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.
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group. Feliubadaló L, et al. Int J Cancer. 2019 Nov 15;145(10):2682-2691. doi: 10.1002/ijc.32304. Epub 2019 Apr 15. Int J Cancer. 2019. PMID: 30927264 Free article.
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S. Montalban G, et al. Hum Mutat. 2018 Sep;39(9):1155-1160. doi: 10.1002/humu.23583. Epub 2018 Jul 13. Hum Mutat. 2018. PMID: 29969168 Free article.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O. Bonache S, et al. J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513. doi: 10.1007/s00432-018-2763-9. Epub 2018 Oct 10. J Cancer Res Clin Oncol. 2018. PMID: 30306255
88 results