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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Infante M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators; Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group; Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN… See abstract for full author list ➔ Dareng EO, et al. Eur J Hum Genet. 2022 Mar;30(3):349-362. doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14. Eur J Hum Genet. 2022. PMID: 35027648 Free PMC article.
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Sanoguera-Miralles L, Llinares-Burguet I, Bueno-Martínez E, Ramadane-Morchadi L, Stuani C, Valenzuela-Palomo A, García-Álvarez A, Pérez-Segura P, Buratti E, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. J Pathol. 2024 Apr;262(4):395-409. doi: 10.1002/path.6243. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332730
Exploring gastric cancer genetics: A turning point in common variable immunodeficiency.
Sánchez-Ramón S, Fuentes-Antrás J, Rider NL, Pérez-Segura P, de la Fuente-Muñoz E, Fernández-Arquero M, Neves E, Pérez de Diego R, Ocaña A, Guevara-Hoyer K. Sánchez-Ramón S, et al. J Allergy Clin Immunol Glob. 2023 Dec 23;3(2):100203. doi: 10.1016/j.jacig.2023.100203. eCollection 2024 May. J Allergy Clin Immunol Glob. 2023. PMID: 38283086 Free PMC article.
Clinical Behavior, Mutational Profile and T-Cell Repertoire of High-Grade Neuroendocrine Tumors of the Head and Neck.
Cabezas-Camarero S, García-Barberán V, Benítez-Fuentes JD, Sotelo MJ, Plaza JC, Encinas-Bascones A, De-la-Sen Ó, Falahat F, Gimeno-Hernández J, Gómez-Serrano M, Puebla-Díaz F, De-Pedro-Marina M, Iglesias-Moreno M, Pérez-Segura P. Cabezas-Camarero S, et al. Cancers (Basel). 2023 Apr 24;15(9):2431. doi: 10.3390/cancers15092431. Cancers (Basel). 2023. PMID: 37173898 Free PMC article.
Response to Yilmaz et al.
Cabezas-Camarero S, Iglesias-Moreno MC, Cerezo Druet E, Sotelo MJ, Merino-Menéndez S, Cabrera-Martín MN, Plaza-Hernández JC, Pérez-Segura P. Cabezas-Camarero S, et al. Anticancer Drugs. 2024 Jun 1;35(5):481-482. doi: 10.1097/CAD.0000000000001585. Epub 2024 Apr 3. Anticancer Drugs. 2024. PMID: 38567818 No abstract available.
190 results