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Page 1
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
Porras LM, Padilla N, Moles-Fernández A, Feliubadaló L, Santamariña-Pena M, Sánchez AT, López-Novo A, Blanco A, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, Ruiz-Ponte C, Vega A, Lázaro C, Díez O, Gutiérrez-Enríquez S, de la Cruz X. Porras LM, et al. Among authors: rueda d. J Mol Diagn. 2024 Jan;26(1):17-28. doi: 10.1016/j.jmoldx.2023.09.009. Epub 2023 Oct 19. J Mol Diagn. 2024. PMID: 37865290 Free article.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez-Enríquez S, Vega A, Lázaro C. Feliubadaló L, et al. Among authors: rueda d. Clin Chem. 2021 Mar 1;67(3):518-533. doi: 10.1093/clinchem/hvaa250. Clin Chem. 2021. PMID: 33280026 Free article.
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group; Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC; Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups; Stoppa-Lyonnet D, Andrieu N. Lesueur F, et al. Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14. Fam Cancer. 2022. PMID: 34125377 Free PMC article. Review.
Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
Pineda M, González-Acosta M, Thompson BA, Sánchez R, Gómez C, Martínez-López J, Perea J, Caldés T, Rodríguez Y, Landolfi S, Balmaña J, Lázaro C, Robles L, Capellá G, Rueda D. Pineda M, et al. Among authors: rueda d. Clin Genet. 2015 Jun;87(6):543-8. doi: 10.1111/cge.12467. Epub 2014 Sep 16. Clin Genet. 2015. PMID: 25060679
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L. Bellido F, et al. Among authors: rueda d. Gastroenterology. 2018 Jan;154(1):181-194.e20. doi: 10.1053/j.gastro.2017.09.005. Epub 2017 Sep 12. Gastroenterology. 2018. PMID: 28912018
Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G. Mur P, et al. Among authors: rueda d. Clin Genet. 2014 Mar;85(3):260-6. doi: 10.1111/cge.12152. Epub 2013 Apr 26. Clin Genet. 2014. PMID: 23530899
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. Among authors: rueda d. 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.
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: rueda d. 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.
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.
Lorca V, Rueda D, Martín-Morales L, Poves C, Fernández-Aceñero MJ, Ruiz-Ponte C, Llovet P, Marrupe D, García-Barberán V, García-Paredes B, Pérez-Segura P, de la Hoya M, Díaz-Rubio E, Caldés T, Garre P. Lorca V, et al. Among authors: rueda d. PLoS One. 2017 Nov 2;12(11):e0187312. doi: 10.1371/journal.pone.0187312. eCollection 2017. PLoS One. 2017. PMID: 29095867 Free PMC article.
240 results