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Page 1
Novel genes and sex differences in COVID-19 severity.
Cruz R, Diz-de Almeida S, López de Heredia M, Quintela I, Ceballos FC, Pita G, Lorenzo-Salazar JM, González-Montelongo R, Gago-Domínguez M, Sevilla Porras M, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, Diaz de Bustamante A, Domínguez-Garrido E, Luchessi AD, Eiros R, Estigarribia Sanabria GM, Carmen Fariñas M, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gil-Fournier B, Gómez-Arrue J, González Álvarez B, Gonzalez Bernaldo de Quirós F, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Liger Borja A, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Merayo Macías E, Minguez P, Moreno Cuerda V, Silbiger V… See abstract for full author list ➔ Cruz R, et al. Among authors: urioste m. Hum Mol Genet. 2022 Nov 10;31(22):3789-3806. doi: 10.1093/hmg/ddac132. Hum Mol Genet. 2022. PMID: 35708486 Free PMC article.
Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.
Ruiz-Llorente S, Montero-Conde C, Milne RL, Moya CM, Cebrián A, Letón R, Cascón A, Mercadillo F, Landa I, Borrego S, Pérez de Nanclares G, Alvarez-Escolá C, Díaz-Pérez JA, Carracedo A, Urioste M, González-Neira A, Benítez J, Santisteban P, Dopazo J, Ponder BA, Robledo M; Medullary Thyroid Carcinoma Clinical Group. Ruiz-Llorente S, et al. Among authors: urioste m. Cancer Res. 2007 Oct 1;67(19):9561-7. doi: 10.1158/0008-5472.CAN-07-1638. Cancer Res. 2007. PMID: 17909067
Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.
Rosa-Rosa JM, Pita G, Urioste M, Llort G, Brunet J, Lázaro C, Blanco I, Ramón y Cajal T, Díez O, de la Hoya M, Caldés T, Tejada MI, González-Neira A, Benítez J. Rosa-Rosa JM, et al. Among authors: urioste m. Am J Hum Genet. 2009 Feb;84(2):115-22. doi: 10.1016/j.ajhg.2008.12.013. Epub 2009 Jan 15. Am J Hum Genet. 2009. PMID: 19147119 Free PMC article.
Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.
Vaclová T, Woods NT, Megías D, Gomez-Lopez S, Setién F, García Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Monteiro ANA, Benítez J, Osorio A. Vaclová T, et al. Among authors: urioste m. Hum Mol Genet. 2016 Dec 15;25(24):5287-5299. doi: 10.1093/hmg/ddw343. Hum Mol Genet. 2016. PMID: 27742776 Free PMC article.
Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.
Paumard-Hernández B, Calvete O, Inglada Pérez L, Tejero H, Al-Shahrour F, Pita G, Barroso A, Carlos Triviño J, Urioste M, Valverde C, González Billalabeitia E, Quiroga V, Francisco Rodríguez Moreno J, Fernández Aramburo A, López C, Maroto P, Sastre J, José Juan Fita M, Duran I, Lorenzo-Lorenzo I, Iranzo P, García Del Muro X, Ros S, Zambrana F, María Autran A, Benítez J. Paumard-Hernández B, et al. Among authors: urioste m. Int J Cancer. 2018 Oct 15;143(8):1954-1962. doi: 10.1002/ijc.31604. Epub 2018 Aug 9. Int J Cancer. 2018. PMID: 29761480 Free article.
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
Tavera-Tapia A, de la Hoya M, Calvete O, Martin-Gimeno P, Fernández V, Macías JA, Alonso B, Pombo L, de Diego C, Alonso R, Pita G, Barroso A, Urioste M, Caldés T, Newman JA, Benítez J, Osorio A. Tavera-Tapia A, et al. Among authors: urioste m. Hum Mutat. 2019 May;40(5):566-577. doi: 10.1002/humu.23732. Epub 2019 Mar 13. Hum Mutat. 2019. PMID: 30817846
Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A. Benito-Sánchez B, et al. Among authors: urioste m. Sci Rep. 2022 May 20;12(1):8547. doi: 10.1038/s41598-022-12480-2. Sci Rep. 2022. PMID: 35595798 Free PMC article.
An unusual variant of chromosome 16. Two new cases.
Pinel I, Diaz de Bustamante A, Urioste M, Felix V, Ureta A, Martinez-Frías ML. Pinel I, et al. Among authors: urioste m. Hum Genet. 1988 Oct;80(2):194. doi: 10.1007/BF00702870. Hum Genet. 1988. PMID: 3169745
160 results