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Results: 1 to 20 of 523

1.

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J, Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells A, Carracedo A, Ruiz-Ponte C, Abulí A, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S.

Genet Med. 2014 Jul 24. doi: 10.1038/gim.2014.89. [Epub ahead of print]

PMID:
25058500
[PubMed - as supplied by publisher]
2.

Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.

Marcheco-Teruel B, Parra EJ, Fuentes-Smith E, Salas A, Buttenschøn HN, Demontis D, Torres-Español M, Marín-Padrón LC, Gómez-Cabezas EJ, Alvarez-Iglesias V, Mosquera-Miguel A, Martínez-Fuentes A, Carracedo A, Børglum AD, Mors O.

PLoS Genet. 2014 Jul 24;10(7):e1004488. doi: 10.1371/journal.pgen.1004488. eCollection 2014 Jul.

PMID:
25058410
[PubMed - in process]
Free Article
3.

Exploring iris colour prediction and ancestry inference in admixed populations of South America.

Freire-Aradas A, Ruiz Y, Phillips C, Maroñas O, Söchtig J, Tato AG, Dios JA, de Cal MC, Silbiger VN, Luchessi AD, Luchessi AD, Chiurillo MA, Carracedo A, Lareu MV.

Forensic Sci Int Genet. 2014 Jul 3;13C:3-9. doi: 10.1016/j.fsigen.2014.06.007. [Epub ahead of print]

PMID:
25051225
[PubMed - as supplied by publisher]
4.

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M.

Clin Chim Acta. 2014 Jul 19. pii: S0009-8981(14)00303-9. doi: 10.1016/j.cca.2014.07.016. [Epub ahead of print]

PMID:
25046559
[PubMed - as supplied by publisher]
5.

HLA-DRB1*15:01 allele protects from asthma susceptibility.

Pino-Yanes M, Corrales A, Acosta-Herrera M, Pérez-Rodríguez E, Cumplido J, Campo P, Barreto-Luis A, Sánchez-García F, Felipe T, Sánchez-Machín I, Quintela I, García-Robaina JC, Villar J, Blanca M, Carracedo A, Carrillo T, Flores C.

J Allergy Clin Immunol. 2014 Jul 14. pii: S0091-6749(14)00770-2. doi: 10.1016/j.jaci.2014.05.031. [Epub ahead of print] No abstract available.

PMID:
25034406
[PubMed - as supplied by publisher]
6.

A Unified Nomenclature and Amino Acid Numbering for Human PTEN.

Pulido R, Baker SJ, Barata JT, Carracedo A, Cid VJ, Chin-Sang ID, Davé V, den Hertog J, Devreotes P, Eickholt BJ, Eng C, Furnari FB, Georgescu MM, Gericke A, Hopkins B, Jiang X, Lee SR, Lösche M, Malaney P, Matias-Guiu X, Molina M, Pandolfi PP, Parsons R, Pinton P, Rivas C, Rocha RM, Rodríguez MS, Ross AH, Serrano M, Stambolic V, Stiles B, Suzuki A, Tan SS, Tonks NK, Trotman LC, Wolff N, Woscholski R, Wu H, Leslie NR.

Sci Signal. 2014 Jul 1;7(332):pe15. Review.

PMID:
24985344
[PubMed - as supplied by publisher]
7.

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders.

Brion M, Blanco-Verea A, Sobrino B, Santori M, Gil R, Ramos-Luis E, Martinez M, Amigo J, Carracedo A.

Electrophoresis. 2014 Jun 30. doi: 10.1002/elps.201400148. [Epub ahead of print]

PMID:
24981977
[PubMed - as supplied by publisher]
8.

A colorectal cancer susceptibility new variant at 4q26 in the spanish population identified by genome-wide association analysis.

Real LM, Ruiz A, Gayán J, González-Pérez A, Sáez ME, Ramírez-Lorca R, Morón FJ, Velasco J, Marginet-Flinch R, Musulén E, Carrasco JM, Moreno-Rey C, Vázquez E, Chaves-Conde M, Moreno-Nogueira JA, Hidalgo-Pascual M, Ferrero-Herrero E, Castellví-Bel S, Castells A, Fernandez-Rozadilla C, Ruiz-Ponte C, Carracedo A, González B, Alonso S, Perucho M.

PLoS One. 2014 Jun 30;9(6):e101178. doi: 10.1371/journal.pone.0101178. eCollection 2014.

PMID:
24978480
[PubMed - in process]
Free PMC Article
9.

A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

Fachal L, Gómez-Caamaño A, Barnett GC, Peleteiro P, Carballo AM, Calvo-Crespo P, Kerns SL, Sánchez-García M, Lobato-Busto R, Dorling L, Elliott RM, Dearnaley DP, Sydes MR, Hall E, Burnet NG, Carracedo A, Rosenstein BS, West CM, Dunning AM, Vega A.

Nat Genet. 2014 Jun 29. doi: 10.1038/ng.3020. [Epub ahead of print]

PMID:
24974847
[PubMed - as supplied by publisher]
10.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM; HRGEN Consortium, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, Greco M FD, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Leach IM, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Arnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C.

Nat Genet. 2014 Jun 22. doi: 10.1038/ng.3014. [Epub ahead of print]

PMID:
24952745
[PubMed - as supplied by publisher]
11.

"New turns from old STaRs": Enhancing the capabilities of forensic short tandem repeat analysis.

Phillips C, Gelabert-Besada M, Fernandez-Formoso L, García-Magariños M, Santos C, Fondevila M, Ballard D, Syndercombe Court D, Carracedo A, Victoria Lareu M.

Electrophoresis. 2014 May 31. doi: 10.1002/elps.201400095. [Epub ahead of print]

PMID:
24888494
[PubMed - as supplied by publisher]
12.

RARRES3 suppresses breast cancer lung metastasis by regulating adhesion and differentiation.

Morales M, Arenas EJ, Urosevic J, Guiu M, Fernández E, Planet E, Fenwick RB, Fernández-Ruiz S, Salvatella X, Reverter D, Carracedo A, Massagué J, Gomis RR.

EMBO Mol Med. 2014 May 27;6(7):865-81. doi: 10.15252/emmm.201303675.

PMID:
24867881
[PubMed - in process]
Free Article
13.

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications.

Alcalde M, Campuzano O, Allegue C, Torres M, Arbelo E, Partemi S, Iglesias A, Brugada J, Oliva A, Carracedo A, Brugada R.

Int J Legal Med. 2014 May 16. [Epub ahead of print]

PMID:
24832006
[PubMed - as supplied by publisher]
14.

Tetramerization-defects of p53 result in aberrant ubiquitylation and transcriptional activity.

Lang V, Pallara C, Zabala A, Lobato-Gil S, Lopitz-Otsoa F, Farrás R, Hjerpe R, Torres-Ramos M, Zabaleta L, Blattner C, Hay RT, Barrio R, Carracedo A, Fernandez-Recio J, Rodríguez MS, Aillet F.

Mol Oncol. 2014 Jul;8(5):1026-42. doi: 10.1016/j.molonc.2014.04.002. Epub 2014 Apr 13.

PMID:
24816189
[PubMed - in process]
15.

Brain activation of the defensive and appetitive survival systems in obsessive compulsive disorder.

Gonçalves OF, Soares JM, Carvalho S, Leite J, Ganho A, Fernandes-Gonçalves A, Frank B, Pocinho F, Relvas J, Carracedo A, Sampaio A.

Brain Imaging Behav. 2014 Apr 24. [Epub ahead of print]

PMID:
24760279
[PubMed - as supplied by publisher]
16.

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.

Balboa-Beltran E, Fernández-Seara MJ, Pérez-Muñuzuri A, Lago R, García-Magán C, Couce ML, Sobrino B, Amigo J, Carracedo A, Barros F.

J Med Genet. 2014 Jul;51(7):475-8. doi: 10.1136/jmedgenet-2013-102020. Epub 2014 Apr 17.

PMID:
24744435
[PubMed - in process]
17.

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.

Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A; EPICOLON Consortium, Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S.

PLoS One. 2014 Apr 17;9(4):e95022. doi: 10.1371/journal.pone.0095022. eCollection 2014.

PMID:
24743384
[PubMed - in process]
Free PMC Article
18.

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.

Fachal L, Blanco A, Santamariña M, Carracedo A, Vega A.

PLoS One. 2014 Mar 31;9(3):e93306. doi: 10.1371/journal.pone.0093306. eCollection 2014.

PMID:
24686251
[PubMed - in process]
Free PMC Article
19.

SNP variation with latitude: Analysis of the SNPforID 52-plex markers in north, mid-region and south Chilean populations.

Moreno F, Freire-Aradas A, Phillips C, Fondevila M, Carracedo Á, Lareu MV.

Forensic Sci Int Genet. 2014 May;10:12-6. doi: 10.1016/j.fsigen.2013.12.009. Epub 2014 Jan 7.

PMID:
24680124
[PubMed - in process]
20.

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.

Rosmarin D, Palles C, Pagnamenta A, Kaur K, Pita G, Martin M, Domingo E, Jones A, Howarth K, Freeman-Mills L, Johnstone E, Wang H, Love S, Scudder C, Julier P, Fernández-Rozadilla C, Ruiz-Ponte C, Carracedo A, Castellvi-Bel S, Castells A, Gonzalez-Neira A, Taylor J, Kerr R, Kerr D, Tomlinson I.

Gut. 2014 Mar 19. doi: 10.1136/gutjnl-2013-306571. [Epub ahead of print]

PMID:
24647007
[PubMed - as supplied by publisher]
Free Article

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