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Page 1
Identification of a founder BRCA1 mutation in the Moroccan population.
Quiles F, Teulé À, Martinussen Tandstad N, Feliubadaló L, Tornero E, Del Valle J, Menéndez M, Salinas M, Wethe Rognlien V, Velasco A, Izquierdo A, Capellá G, Brunet J, Lázaro C. Quiles F, et al. Among authors: velasco a. Clin Genet. 2016 Oct;90(4):361-5. doi: 10.1111/cge.12747. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26864382
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, Calaf M, Tornero E, del Valle J, Fernández-Rodríguez J, Quiles F, Salinas M, Velasco A, Teulé A, Brunet J, Blanco I, Capellá G, Lázaro C. Menéndez M, et al. Among authors: velasco a. Breast Cancer Res Treat. 2012 Apr;132(3):979-92. doi: 10.1007/s10549-011-1661-5. Epub 2011 Jul 7. Breast Cancer Res Treat. 2012. PMID: 21735045
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C. Stradella A, et al. Among authors: velasco a. J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22. J Med Genet. 2019. PMID: 30580288 Free PMC article.
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
Graña B, Fachal L, Darder E, Balmaña J, Ramón Y Cajal T, Blanco I, Torres A, Lázaro C, Diez O, Alonso C, Santamariña M, Velasco A, Teulé A, Lasa A, Blanco A, Izquierdo A, Borràs J, Gutiérrez-Enríquez S, Vega A, Brunet J. Graña B, et al. Among authors: velasco a. Breast Cancer Res Treat. 2011 Jul;128(2):573-9. doi: 10.1007/s10549-011-1462-x. Epub 2011 Mar 29. Breast Cancer Res Treat. 2011. PMID: 21445571
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Del Valle J, Campos O, Velasco A, Darder E, Menéndez M, Feliubadaló L, Tornero E, Blanco I, Izquierdo A, Brunet J, Capellá G, Lázaro C. Del Valle J, et al. Among authors: velasco a. Breast Cancer Res Treat. 2011 Nov;130(1):341-4. doi: 10.1007/s10549-011-1673-1. Epub 2011 Jul 15. Breast Cancer Res Treat. 2011. PMID: 21761158
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, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: velasco a. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.
Dámaso E, Canet-Hermida J, Vargas-Parra G, Velasco À, Marín F, Darder E, Del Valle J, Fernández A, Izquierdo À, Mateu G, Oliveras G, Escribano C, Piñol V, Uchima HI, Soto JL, Hitchins M, Farrés R, Lázaro C, Queralt B, Brunet J, Capellá G, Pineda M. Dámaso E, et al. Among authors: velasco a. Clin Epigenetics. 2019 Nov 28;11(1):171. doi: 10.1186/s13148-019-0762-6. Clin Epigenetics. 2019. PMID: 31779681 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: velasco a. Hum Mutat. 2020 Dec;41(12):2128-2142. doi: 10.1002/humu.24110. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906215
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M, Marín F, Puliafito B, Bonifaci N, Fernández A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-García P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lázaro C, Rueda D, Wimmer K, Capellá G, Pineda M. González-Acosta M, et al. Among authors: velasco a. J Med Genet. 2020 Apr;57(4):269-273. doi: 10.1136/jmedgenet-2019-106272. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494577 Free PMC article.
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
Rofes P, González S, Navarro M, Moreno-Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gómez C, Velasco À, Tuset N, Varela M, Llort G, Ramon Y Cajal T, Grau È, Dueñas N, de la Ossa Merlano N, Matías-Guiu X, Rivera B, Balmaña J, Pineda M, Brunet J, Capellá G, Del Valle J, Lázaro C. Rofes P, et al. Among authors: velasco a. J Mol Diagn. 2021 Nov;23(11):1452-1459. doi: 10.1016/j.jmoldx.2021.07.024. Epub 2021 Aug 25. J Mol Diagn. 2021. PMID: 34454113 Free article.
718 results