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

Year Number of Results
2002 3
2003 2
2004 6
2005 6
2006 6
2007 3
2008 8
2009 8
2010 6
2011 3
2012 6
2013 5
2014 7
2015 4
2016 7
2017 10
2018 5
2019 12
2020 14
2021 19
2022 13
2023 22
2024 6

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153 results

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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: gonzalez s. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: gonzalez s. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Vargas-Parra G, et al. Among authors: gonzalez s. Hum Mutat. 2020 Dec;41(12):2128-2142. doi: 10.1002/humu.24110. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906215
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Del Valle J, et al. Among authors: gonzalez s. Cancers (Basel). 2020 Mar 30;12(4):829. doi: 10.3390/cancers12040829. Cancers (Basel). 2020. PMID: 32235514 Free PMC article.
Validation of the RIM Score-COVID in the Spanish SEMI-COVID-19 Registry.
Ramos-Rincón JM, Ventura PS, Casas-Rojo JM, Mauri M, Bermejo CL, de Latierro AO, Rubio-Rivas M, Mérida-Rodrigo L, Pérez-Casado L, Barrientos-Guerrero M, Giner-Galvañ V, Gallego-Lezaun C, Milián AH, Manzano L, Blázquez-Encinar JC, Solís-Marquínez MN, García MG, Lobo-García J, Valente VA, Roig-Martí C, León-Téllez M, Tellería-Gómez P, González-Juárez MJ, Gómez-Huelgas R, López-Escobar A; SEMI-COVID-19 Network. Ramos-Rincón JM, et al. Intern Emerg Med. 2023 Apr;18(3):907-915. doi: 10.1007/s11739-023-03200-3. Epub 2023 Jan 21. Intern Emerg Med. 2023. PMID: 36680737 Free PMC article.
EEG source imaging.
Michel CM, Murray MM, Lantz G, Gonzalez S, Spinelli L, Grave de Peralta R. Michel CM, et al. Among authors: gonzalez s. Clin Neurophysiol. 2004 Oct;115(10):2195-222. doi: 10.1016/j.clinph.2004.06.001. Clin Neurophysiol. 2004. PMID: 15351361 Review.
[Familial adenomatous polyposis].
Parés D, Pera M, González S, Pascual Cruz M, Blanco I. Parés D, et al. Among authors: gonzalez s. Gastroenterol Hepatol. 2006 Dec;29(10):625-35. doi: 10.1157/13095198. Gastroenterol Hepatol. 2006. PMID: 17198641 Review. Spanish.
Nucleosomal organization and DNA base composition patterns.
García A, González S, Antequera F. García A, et al. Among authors: gonzalez s. Nucleus. 2017 Sep 3;8(5):469-474. doi: 10.1080/19491034.2017.1337611. Epub 2017 Jun 21. Nucleus. 2017. PMID: 28635365 Free PMC article. Review.
Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry.
Casas-Rojo JM, Antón-Santos JM, Millán-Núñez-Cortés J, Gómez-Huelgas R, Ramos-Rincón JM, Rubio-Rivas M, Corrales-González MÁ, Fernández-Madera-Martínez MR, Beato-Pérez JL, Arnalich-Fernández F, Gállego-Lezaun C, Pérez-Martínez P, Molinos-Castro S, Tung-Chen Y, Madrazo M, Méndez-Bailón M, Monge-Monge D, García-García GM, García-Fenoll R, Gilabert N, Fuerte-Martínez R, Contreras-Sánchez M, Rhyman N, Peris-García J, Lumbreras-Bermejo C; SEMI-COVID-19 Network. Casas-Rojo JM, et al. Sci Rep. 2023 Oct 18;13(1):17731. doi: 10.1038/s41598-023-42735-5. Sci Rep. 2023. PMID: 37853011 Free PMC article.
FACT mediates cohesin function on chromatin.
Garcia-Luis J, Lazar-Stefanita L, Gutierrez-Escribano P, Thierry A, Cournac A, García A, González S, Sánchez M, Jarmuz A, Montoya A, Dore M, Kramer H, Karimi MM, Antequera F, Koszul R, Aragon L. Garcia-Luis J, et al. Among authors: gonzalez s. Nat Struct Mol Biol. 2019 Oct;26(10):970-979. doi: 10.1038/s41594-019-0307-x. Epub 2019 Oct 3. Nat Struct Mol Biol. 2019. PMID: 31582854 Free PMC article.
153 results