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Page 1
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Whiley PJ, et al. Among authors: quiles f. Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8. Clin Chem. 2014. PMID: 24212087 Free PMC article.
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, Caldés T, Lasa A, Ramón y Cajal T, Santamariña M, Vega A, Quiles F, Lázaro C, Díez O, Fernández D, González-Sarmiento R, Durán M, Piqueras JF, Marín M, Pujol R, Surrallés J, Benítez J. Osorio A, et al. Among authors: quiles f. Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24027083
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. 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: quiles f. 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
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA. Fernández-Rodríguez J, et al. Among authors: quiles f. BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84. BMC Cancer. 2012. PMID: 22401137 Free PMC article.
Functional and structural analysis of C-terminal BRCA1 missense variants.
Quiles F, Fernández-Rodríguez J, Mosca R, Feliubadaló L, Tornero E, Brunet J, Blanco I, Capellá G, Pujana MÀ, Aloy P, Monteiro A, Lázaro C. Quiles F, et al. PLoS One. 2013 Apr 17;8(4):e61302. doi: 10.1371/journal.pone.0061302. Print 2013. PLoS One. 2013. PMID: 23613828 Free PMC article.
Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study.
Pardini B, Verderio P, Pizzamiglio S, Nici C, Maiorana MV, Naccarati A, Vodickova L, Vymetalkova V, Veneroni S, Daidone MG, Ravagnani F, Bianchi T, Bujanda L, Carracedo A, Castells A, Ruiz-Ponte C, Morreau H, Howarth K, Jones A, Castellví-Bel S, Li L, Tomlinson I, Van Wezel T, Vodicka P, Radice P, Peterlongo P; EPICOLON Consortium. Pardini B, et al. PLoS One. 2014 Jan 21;9(1):e85538. doi: 10.1371/journal.pone.0085538. eCollection 2014. PLoS One. 2014. PMID: 24465592 Free PMC article.
Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.
Picelli S, Lorenzo Bermejo J, Chang-Claude J, Hoffmeister M, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S; Memebers of EPICOLON Consortium-Gastrointestinal Oncology Group of the Spanish Gastroenterological Association; Naccarati A, Pardini B, Vodickova L, Müller H, Talseth-Palmer BA, Stibbard G, Peterlongo P, Nici C, Veneroni S, Li L, Casey G, Tenesa A, Farrington SM, Tomlinson I, Moreno V, van Wezel T, Wijnen J, Dunlop M, Radice P, Scott RJ, Vodicka P, Ruiz-Ponte C, Brenner H, Buch S, Völzke H, Hampe J, Schafmayer C, Lindblom A. Picelli S, et al. PLoS One. 2013 Sep 6;8(9):e72091. doi: 10.1371/journal.pone.0072091. eCollection 2013. PLoS One. 2013. PMID: 24039736 Free PMC article.
78 results