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Items: 21

1.

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.

Mur P, Jemth AS, Bevc L, Amaral N, Navarro M, Valdés-Mas R, Pons T, Aiza G, Urioste M, Valencia A, Lázaro C, Moreno V, Puente XS, Stenmark P, Warpman-Berglund U, Capellá G, Helleday T, Valle L.

Hum Mutat. 2018 Jun 13. doi: 10.1002/humu.23564. [Epub ahead of print]

PMID:
29900613
2.

Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance.

Ruiz de Garibay G, Mateo F, Stradella A, Valdés-Mas R, Palomero L, Serra-Musach J, Puente DA, Díaz-Navarro A, Vargas-Parra G, Tornero E, Morilla I, Farré L, Martinez-Iniesta M, Herranz C, McCormack E, Vidal A, Petit A, Soler T, Lázaro C, Puente XS, Villanueva A, Pujana MA.

Dis Model Mech. 2018 May 18;11(5). pii: dmm032292. doi: 10.1242/dmm.032292.

3.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.

Mur P, De Voer RM, Olivera-Salguero R, Rodríguez-Perales S, Pons T, Setién F, Aiza G, Valdés-Mas R, Bertini A, Pineda M, Vreede L, Navarro M, Iglesias S, González S, Brunet J, Valencia A, Esteller M, Lázaro C, Kops GJPL, Urioste M, Puente XS, Capellá G, Valle L.

Mol Cancer. 2018 Feb 15;17(1):23. doi: 10.1186/s12943-018-0762-8.

4.

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L.

Gastroenterology. 2018 Jan;154(1):181-194.e20. doi: 10.1053/j.gastro.2017.09.005. Epub 2017 Sep 12.

PMID:
28912018
5.

Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition.

Mateo F, Arenas EJ, Aguilar H, Serra-Musach J, de Garibay GR, Boni J, Maicas M, Du S, Iorio F, Herranz-Ors C, Islam A, Prado X, Llorente A, Petit A, Vidal A, Català I, Soler T, Venturas G, Rojo-Sebastian A, Serra H, Cuadras D, Blanco I, Lozano J, Canals F, Sieuwerts AM, de Weerd V, Look MP, Puertas S, García N, Perkins AS, Bonifaci N, Skowron M, Gómez-Baldó L, Hernández V, Martínez-Aranda A, Martínez-Iniesta M, Serrat X, Cerón J, Brunet J, Barretina MP, Gil M, Falo C, Fernández A, Morilla I, Pernas S, Plà MJ, Andreu X, Seguí MA, Ballester R, Castellà E, Nellist M, Morales S, Valls J, Velasco A, Matias-Guiu X, Figueras A, Sánchez-Mut JV, Sánchez-Céspedes M, Cordero A, Gómez-Miragaya J, Palomero L, Gómez A, Gajewski TF, Cohen EEW, Jesiotr M, Bodnar L, Quintela-Fandino M, López-Bigas N, Valdés-Mas R, Puente XS, Viñals F, Casanovas O, Graupera M, Hernández-Losa J, Ramón Y Cajal S, García-Alonso L, Saez-Rodriguez J, Esteller M, Sierra A, Martín-Martín N, Matheu A, Carracedo A, González-Suárez E, Nanjundan M, Cortés J, Lázaro C, Odero MD, Martens JWM, Moreno-Bueno G, Barcellos-Hoff MH, Villanueva A, Gomis RR, Pujana MA.

Oncogene. 2017 May 11;36(19):2737-2749. doi: 10.1038/onc.2016.427. Epub 2016 Dec 19.

6.

Transplacental transfer of essential thrombocythemia in monozygotic twins.

Valdés-Mas R, Gutiérrez-Abril J, Pitiot AS, Santamaría I, Puente DA, Muñiz Lobato S, Balbín M, Puente XS.

Blood. 2016 Oct 6;128(14):1894-1896. doi: 10.1182/blood-2016-06-724252. Epub 2016 Aug 10. No abstract available.

7.

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.

Mur P, Sánchez-Cuartielles E, Aussó S, Aiza G, Valdés-Mas R, Pineda M, Navarro M, Brunet J, Urioste M, Lázaro C, Moreno V, Capellá G, Puente XS, Valle L.

Sci Rep. 2016 Apr 20;6:23880. doi: 10.1038/srep23880. No abstract available.

8.

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.

Mur P, Sánchez-Cuartielles E, Aussó S, Aiza G, Valdés-Mas R, Pineda M, Navarro M, Brunet J, Urioste M, Lázaro C, Moreno V, Capellá G, Puente XS, Valle L.

Sci Rep. 2016 Feb 8;6:20697. doi: 10.1038/srep20697. Erratum in: Sci Rep. 2016;6:23880. Elena, Sánchez-Cuartielles [corrected to Sánchez-Cuartielles, Elena];.

9.

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

Alioto TS, Buchhalter I, Derdak S, Hutter B, Eldridge MD, Hovig E, Heisler LE, Beck TA, Simpson JT, Tonon L, Sertier AS, Patch AM, Jäger N, Ginsbach P, Drews R, Paramasivam N, Kabbe R, Chotewutmontri S, Diessl N, Previti C, Schmidt S, Brors B, Feuerbach L, Heinold M, Gröbner S, Korshunov A, Tarpey PS, Butler AP, Hinton J, Jones D, Menzies A, Raine K, Shepherd R, Stebbings L, Teague JW, Ribeca P, Giner FC, Beltran S, Raineri E, Dabad M, Heath SC, Gut M, Denroche RE, Harding NJ, Yamaguchi TN, Fujimoto A, Nakagawa H, Quesada V, Valdés-Mas R, Nakken S, Vodák D, Bower L, Lynch AG, Anderson CL, Waddell N, Pearson JV, Grimmond SM, Peto M, Spellman P, He M, Kandoth C, Lee S, Zhang J, Létourneau L, Ma S, Seth S, Torrents D, Xi L, Wheeler DA, López-Otín C, Campo E, Campbell PJ, Boutros PC, Puente XS, Gerhard DS, Pfister SM, McPherson JD, Hudson TJ, Schlesner M, Lichter P, Eils R, Jones DT, Gut IG.

Nat Commun. 2015 Dec 9;6:10001. doi: 10.1038/ncomms10001.

10.

Chronic lymphocytic leukemia: looking into the dark side of the genome.

Valdés-Mas R, Gutiérrez-Abril J, Puente XS, López-Otín C.

Cell Death Differ. 2016 Jan;23(1):7-9. doi: 10.1038/cdd.2015.155. Epub 2015 Nov 27. No abstract available.

11.

Non-coding recurrent mutations in chronic lymphocytic leukaemia.

Puente XS, Beà S, Valdés-Mas R, Villamor N, Gutiérrez-Abril J, Martín-Subero JI, Munar M, Rubio-Pérez C, Jares P, Aymerich M, Baumann T, Beekman R, Belver L, Carrio A, Castellano G, Clot G, Colado E, Colomer D, Costa D, Delgado J, Enjuanes A, Estivill X, Ferrando AA, Gelpí JL, González B, González S, González M, Gut M, Hernández-Rivas JM, López-Guerra M, Martín-García D, Navarro A, Nicolás P, Orozco M, Payer ÁR, Pinyol M, Pisano DG, Puente DA, Queirós AC, Quesada V, Romeo-Casabona CM, Royo C, Royo R, Rozman M, Russiñol N, Salaverría I, Stamatopoulos K, Stunnenberg HG, Tamborero D, Terol MJ, Valencia A, López-Bigas N, Torrents D, Gut I, López-Guillermo A, López-Otín C, Campo E.

Nature. 2015 Oct 22;526(7574):519-24. doi: 10.1038/nature14666. Epub 2015 Jul 22.

PMID:
26200345
12.

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

Bellido F, Pineda M, Aiza G, Valdés-Mas R, Navarro M, Puente DA, Pons T, González S, Iglesias S, Darder E, Piñol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lázaro C, Capellá G, Puente XS, Valle L.

Genet Med. 2016 Apr;18(4):325-32. doi: 10.1038/gim.2015.75. Epub 2015 Jul 2. Review.

13.

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

Seguí N, Mina LB, Lázaro C, Sanz-Pamplona R, Pons T, Navarro M, Bellido F, López-Doriga A, Valdés-Mas R, Pineda M, Guinó E, Vidal A, Soto JL, Caldés T, Durán M, Urioste M, Rueda D, Brunet J, Balbín M, Blay P, Iglesias S, Garré P, Lastra E, Sánchez-Heras AB, Valencia A, Moreno V, Pujana MÁ, Villanueva A, Blanco I, Capellá G, Surrallés J, Puente XS, Valle L.

Gastroenterology. 2015 Sep;149(3):563-6. doi: 10.1053/j.gastro.2015.05.056. Epub 2015 Jun 5.

14.

Common and rare variants of microRNA genes in autism spectrum disorders.

Toma C, Torrico B, Hervás A, Salgado M, Rueda I, Valdés-Mas R, Buitelaar JK, Rommelse N, Franke B, Freitag C, Reif A, Pérez-Jurado LA, Battaglia A, Mazzone L, Bacchelli E, Puente XS, Cormand B.

World J Biol Psychiatry. 2015 Apr 23:1-11. [Epub ahead of print]

PMID:
25903372
15.

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.

Castellsagué J, Gel B, Fernández-Rodríguez J, Llatjós R, Blanco I, Benavente Y, Pérez-Sidelnikova D, García-Del Muro J, Viñals JM, Vidal A, Valdés-Mas R, Terribas E, López-Doriga A, Pujana MA, Capellá G, Puente XS, Serra E, Villanueva A, Lázaro C.

EMBO Mol Med. 2015 May;7(5):608-27. doi: 10.15252/emmm.201404430.

16.

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C, León D, Martín M, Puente XS, López-Otín C.

Nat Commun. 2014 Oct 29;5:5326. doi: 10.1038/ncomms6326.

PMID:
25351925
17.

Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.

Seguí N, Navarro M, Pineda M, Köger N, Bellido F, González S, Campos O, Iglesias S, Valdés-Mas R, López-Doriga A, Gut M, Blanco I, Lázaro C, Capellá G, Puente XS, Plotz G, Valle L.

Gut. 2015 Feb;64(2):355-6. doi: 10.1136/gutjnl-2014-307084. Epub 2014 Apr 1. No abstract available.

PMID:
24691292
18.

Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.

Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Di Croce L, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E.

Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18250-5. doi: 10.1073/pnas.1314608110. Epub 2013 Oct 21.

19.

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán-Noguero A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayés M, Cormand B.

Mol Psychiatry. 2014 Jul;19(7):784-90. doi: 10.1038/mp.2013.106. Epub 2013 Sep 3.

PMID:
23999528
20.

Signatures of mutational processes in human cancer.

Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Børresen-Dale AL, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjörd JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinski M, Jäger N, Jones DT, Jones D, Knappskog S, Kool M, Lakhani SR, López-Otín C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt AN, Valdés-Mas R, van Buuren MM, van 't Veer L, Vincent-Salomon A, Waddell N, Yates LR; Australian Pancreatic Cancer Genome Initiative; ICGC Breast Cancer Consortium; ICGC MMML-Seq Consortium; ICGC PedBrain, Zucman-Rossi J, Futreal PA, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR.

Nature. 2013 Aug 22;500(7463):415-21. doi: 10.1038/nature12477. Epub 2013 Aug 14. Erratum in: Nature. 2013 Oct 10;502(7470):258. Imielinsk, Marcin [corrected to Imielinski, Marcin].

21.

Estimation of copy number alterations from exome sequencing data.

Valdés-Mas R, Bea S, Puente DA, López-Otín C, Puente XS.

PLoS One. 2012;7(12):e51422. doi: 10.1371/journal.pone.0051422. Epub 2012 Dec 19.

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