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Page 1
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: ruiz ponte c. 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.
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration.
Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A; EPICOLON Consortium. Fernandez-Rozadilla C, et al. Pharmacogenomics J. 2013 Jun;13(3):209-17. doi: 10.1038/tpj.2012.2. Epub 2012 Feb 7. Pharmacogenomics J. 2013. PMID: 22310351
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: ruiz ponte c. 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.
Reply.
Bonjoch L, Castellví-Bel S, Ruiz-Ponte C. Bonjoch L, et al. Among authors: ruiz ponte c. Gastroenterology. 2023 Dec;165(6):1577-1578. doi: 10.1053/j.gastro.2023.09.027. Epub 2023 Sep 22. Gastroenterology. 2023. PMID: 37741422 No abstract available.
BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.
Bonjoch L, Fernandez-Rozadilla C, Alvarez-Barona M, Lopez-Novo A, Herrera-Pariente C, Amigo J, Bujanda L, Remedios D, Dacal A, Cubiella J, Balaguer F, Fernández-Bañares F, Carracedo A, Jover R, Castellvi-Bel S, Ruiz-Ponte C. Bonjoch L, et al. Among authors: ruiz ponte c. Gastroenterology. 2023 Jul;165(1):162-172.e5. doi: 10.1053/j.gastro.2023.03.006. Epub 2023 Mar 11. Gastroenterology. 2023. PMID: 36907526 Free article.
Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors).
Echegoyen-Silanes A, Pineda-Arribas JJ, Sánchez-Ares M, Cameselle-García S, Sobrino B, Ruíz-Ponte C, Piso-Neira M, Anda E, Cameselle-Teijeiro JM. Echegoyen-Silanes A, et al. Among authors: ruiz ponte c. Virchows Arch. 2023 Mar;482(3):615-623. doi: 10.1007/s00428-023-03495-9. Epub 2023 Jan 23. Virchows Arch. 2023. PMID: 36689061 Free PMC article.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: ruiz ponte c. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
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.
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.
Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro JM, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Fernández-Rozadilla C, et al. Among authors: ruiz ponte c. Sci Rep. 2021 May 27;11(1):11135. doi: 10.1038/s41598-021-90590-z. Sci Rep. 2021. PMID: 34045552 Free PMC article.
98 results