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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 7
2003 6
2004 9
2005 14
2006 12
2007 15
2008 12
2009 14
2010 16
2011 11
2012 21
2013 21
2014 20
2015 9
2016 12
2017 13
2018 12
2019 21
2020 31
2021 32
2022 17
2023 21
2024 5

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292 results

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Page 1
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Among authors: capella g. Clin Chem. 2024 Mar 26:hvae027. doi: 10.1093/clinchem/hvae027. Online ahead of print. Clin Chem. 2024. PMID: 38531023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Among authors: capella g. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free article.
Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.
Gonzalez-Abuin N, Pons T, Fuster T, Quintana I, Terradas M, Aiza G, Brunet J, Capellá G, Hampel H, Valle L. Gonzalez-Abuin N, et al. Among authors: capella g. Genes Dis. 2023 Apr 7;11(2):524-527. doi: 10.1016/j.gendis.2023.03.011. eCollection 2024 Mar. Genes Dis. 2023. PMID: 37692519 Free PMC article. No abstract available.
Wnt genes in colonic polyposis predisposition.
Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L. Quintana I, et al. Among authors: capella g. Genes Dis. 2022 Dec 29;10(3):753-757. doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May. Genes Dis. 2022. PMID: 37396538 Free PMC article. No abstract available.
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.
Dueñas N, Klinkhammer H, Bonifaci N, Spier I, Mayr A, Hassanin E, Diez-Villanueva A, Moreno V, Pineda M, Maj C, Capellà G, Aretz S, Brunet J. Dueñas N, et al. Among authors: capella g. J Med Genet. 2023 Nov;60(11):1044-1051. doi: 10.1136/jmg-2023-109344. Epub 2023 Jun 15. J Med Genet. 2023. PMID: 37321833 Free 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: capella g. 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.
292 results