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Page 1
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C. García-García G, et al. Among authors: derdak s. Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020. Mol Vis. 2020. PMID: 32214787 Free PMC article.
Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia.
González-Rincón J, Gómez S, Martinez N, Troulé K, Perales-Patón J, Derdak S, Beltrán S, Fernández-Cuevas B, Pérez-Sanz N, Nova-Gurumeta S, Gut I, Al-Shahrour F, Piris MA, García-Marco JA, Sánchez-Beato M. González-Rincón J, et al. Among authors: derdak s. Sci Rep. 2019 Jan 30;9(1):975. doi: 10.1038/s41598-018-37389-7. Sci Rep. 2019. PMID: 30700761 Free PMC article.
Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.
Franch-Expósito S, Esteban-Jurado C, Garre P, Quintanilla I, Duran-Sanchon S, Díaz-Gay M, Bonjoch L, Cuatrecasas M, Samper E, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Castells A; EPICOLON consortium; Vila-Casadesús M, Derdak S, Laurie S, Beltran S, Carvajal J, Bujanda L, Ruiz-Ponte C, Camps J, Gironella M, Lozano JJ, Balaguer F, Cubiella J, Caldés T, Castellví-Bel S. Franch-Expósito S, et al. Among authors: derdak s. J Genet Genomics. 2018 Jan 20;45(1):41-45. doi: 10.1016/j.jgg.2017.12.001. Epub 2017 Dec 20. J Genet Genomics. 2018. PMID: 29396139 No abstract available.
Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.
Martínez N, Almaraz C, Vaqué JP, Varela I, Derdak S, Beltran S, Mollejo M, Campos-Martin Y, Agueda L, Rinaldi A, Kwee I, Gut M, Blanc J, Oscier D, Strefford JC, Martinez-Lopez J, Salar A, Sole F, Rodriguez-Peralto JL, Diez-Tascón C, García JF, Fraga M, Sebastián E, Alvés J, Menárguez J, González-Carreró J, Casado LF, Bayes M, Bertoni F, Gut I, Piris MA. Martínez N, et al. Among authors: derdak s. Leukemia. 2014 Jun;28(6):1334-40. doi: 10.1038/leu.2013.365. Epub 2013 Dec 3. Leukemia. 2014. PMID: 24296945
Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.
Carrera C, Jiménez-Conde J, Derdak S, Rabionet K, Vives-Bauzá C, Soriano-Tárrega C, Giralt-Steinhauer E, Mola-Caminal M, Diaz-Navarro RM, Tur S, Muiño E, Gallego-Fabrega C, Beltran S, Roquer J, Ruiz A, Sotolongo-Grau O, Krupinski J, Lee JM, Cruchaga C, Delgado P, Malik R, Worrall BB, Seshadri S, Montaner J, Fernández-Cadenas I; Metastroke Consortium, ISGC Consortium and Genestroke Consortium. Carrera C, et al. Among authors: derdak s. Thromb Haemost. 2016 Nov 30;116(6):1165-1171. doi: 10.1160/TH16-02-0113. Epub 2016 Sep 8. Thromb Haemost. 2016. PMID: 27604134
Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.
González-Vela MDC, Curiel-Olmo S, Derdak S, Beltran S, Santibañez M, Martínez N, Castillo-Trujillo A, Gut M, Sánchez-Pacheco R, Almaraz C, Cereceda L, Llombart B, Agraz-Doblas A, Revert-Arce J, López Guerrero JA, Mollejo M, Marrón PI, Ortiz-Romero P, Fernandez-Cuesta L, Varela I, Gut I, Cerroni L, Piris MÁ, Vaqué JP. González-Vela MDC, et al. Among authors: derdak s. J Invest Dermatol. 2017 Jan;137(1):197-206. doi: 10.1016/j.jid.2016.08.015. Epub 2016 Sep 1. J Invest Dermatol. 2017. PMID: 27592799 Free article.
Splenic diffuse red pulp small B-cell lymphoma displays increased expression of cyclin D3 and recurrent CCND3 mutations.
Curiel-Olmo S, Mondéjar R, Almaraz C, Mollejo M, Cereceda L, Marès R, Derdak S, Campos-Martín Y, Batlle A, González de Villambrosía S, Gut M, Blanc J, Traverse-Glehen A, Verney A, Baseggio L, Camacho FI, Wotherspoon A, Stamatopoulos K, Xochelli A, Papadaki T, Kanellis G, Ponzoni M, García-Cosío M, Vaqué JP, Beltrán S, Gut I, Piris MA, Martínez N. Curiel-Olmo S, et al. Among authors: derdak s. Blood. 2017 Feb 23;129(8):1042-1045. doi: 10.1182/blood-2016-11-751024. Epub 2017 Jan 9. Blood. 2017. PMID: 28069605 Free article. No abstract available.
87 results