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Results: 1 to 20 of 536

1.

The multiethnic ancestry of Bolivians as revealed by the analysis of Y-chromosome markers.

Cárdenas JM, Heinz T, Pardo-Seco J, Alvarez-Iglesias V, Taboada-Echalar P, Sánchez-Diz P, Carracedo A, Salas A.

Forensic Sci Int Genet. 2014 Nov 1;14C:210-218. doi: 10.1016/j.fsigen.2014.10.023. [Epub ahead of print]

PMID:
25450796
[PubMed - as supplied by publisher]
2.

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Kaufmann S, Hillman KM, Walpole C, Moya L, Pollock P, Jones A, Howarth K, Martin L, Gorman M, Hodgson S; National Study of Endometrial Cancer Genetics Group (NSECG); CHIBCHA Consortium, De Polanco MM, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang YB; The Australian National Endometrial Cancer Study Group (ANECS), Montgomery GW, Webb PM, Scott RJ, McEvoy M, Attia J, Holliday E, Martin NG, Nyholt DR, Henders AK, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Tzortzatos G, Mints M, Tham E; RENDOCAS, Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC; Australian Ovarian Cancer Study (AOCS), Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H; The GENICA Network, Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, French JD, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Edwards SL, Thompson DJ, Spurdle AB.

Hum Mol Genet. 2014 Nov 6. pii: ddu552. [Epub ahead of print]

PMID:
25378557
[PubMed - as supplied by publisher]
3.

Synaptic, transcriptional and chromatin genes disrupted in autism.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD.

Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29.

PMID:
25363760
[PubMed - indexed for MEDLINE]
4.

High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.

Apellániz-Ruiz M, Inglada-Pérez L, Naranjo ME, Sánchez L, Mancikova V, Currás-Freixes M, de Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G, Cascón A, Taboada-Echalar P, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A, Rodríguez-Antona C.

Pharmacogenomics J. 2014 Nov 4. doi: 10.1038/tpj.2014.67. [Epub ahead of print]

PMID:
25348618
[PubMed - as supplied by publisher]
5.

A SNaPshot of next generation sequencing for forensic SNP analysis.

Daniel R, Santos C, Phillips C, Fondevila M, van Oorschot RA, Carracedo A, Lareu MV, McNevin D.

Forensic Sci Int Genet. 2015 Jan;14:50-60. doi: 10.1016/j.fsigen.2014.08.013. Epub 2014 Aug 30.

PMID:
25282603
[PubMed - in process]
6.

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors.

Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, Eilber U, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, Munday HR, Darabi H, Eriksson M, Brand JS, Olson J, Vachon CM, Hallberg E, Castelao JE, Carracedo A, Torres M, Li J, Humphreys K, Cordina-Duverger E, Menegaux F, Flyger H, Nordestgaard BG, Nielsen SF, Yesilyurt BT, Floris G, Leunen K, Engelhardt EG, Broeks A, Rutgers EJ, Glendon G, Mulligan AM, Cross S, Reed M, Gonzalez-Neira A, Arias Perez JI, Provenzano E, Apicella C, Southey MC, Spurdle A; kConFab Investigators; AOCS Group, Häberle L, Beckmann MW, Ekici AB, Dieffenbach AK, Arndt V, Stegmaier C, McLean C, Baglietto L, Chanock SJ, Lissowska J, Sherman ME, Brüning T, Hamann U, Ko YD, Orr N, Schoemaker M, Ashworth A, Kosma VM, Kataja V, Hartikainen JM, Mannermaa A, Swerdlow A; GENICA-Network, Giles GG, Brenner H, Fasching PA, Chenevix-Trench G, Hopper J, Benítez J, Cox A, Andrulis IL, Lambrechts D, Gago-Dominguez M, Couch F, Czene K, Bojesen SE, Easton DF, Schmidt MK, Guénel P, Hall P, Pharoah PD, Garcia-Closas M, Chang-Claude J.

Int J Cancer. 2014 Sep 16. doi: 10.1002/ijc.29188. [Epub ahead of print]

PMID:
25227710
[PubMed - as supplied by publisher]
7.

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.

Fattorini P, Previderè C, Sorçaburu-Cigliero S, Marrubini G, Alù M, Barbaro AM, Carnevali E, Carracedo A, Casarino L, Consoloni L, Corato S, Domenici R, Fabbri M, Giardina E, Grignani P, Baldassarra SL, Moratti M, Nicolin V, Pelotti S, Piccinini A, Pitacco P, Plizza L, Resta N, Ricci U, Robino C, Salvaderi L, Scarnicci F, Schneider PM, Seidita G, Trizzino L, Turchi C, Turrina S, Vatta P, Vecchiotti C, Verzeletti A, De Stefano F.

Electrophoresis. 2014 Nov;35(21-22):3134-44. doi: 10.1002/elps.201400141. Epub 2014 Oct 31.

PMID:
25176610
[PubMed - in process]
8.

Loss of Tribbles pseudokinase-3 promotes Akt-driven tumorigenesis via FOXO inactivation.

Salazar M, Lorente M, García-Taboada E, Pérez Gómez E, Dávila D, Zúñiga-García P, María Flores J, Rodríguez A, Hegedus Z, Mosén-Ansorena D, Aransay AM, Hernández-Tiedra S, López-Valero I, Quintanilla M, Sánchez C, Iovanna JL, Dusetti N, Guzmán M, Francis SE, Carracedo A, Kiss-Toth E, Velasco G.

Cell Death Differ. 2015 Jan;22(1):131-44. doi: 10.1038/cdd.2014.133. Epub 2014 Aug 29.

PMID:
25168244
[PubMed - in process]
9.

Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain.

Ivorra JL, Rivero O, Costas J, Iniesta R, Arrojo M, Ramos-Ríos R, Carracedo A, Palomo T, Rodriguez-Jimenez R, Cervilla J, Gutiérrez B, Molina E, Arango C, Alvarez M, Pascual JC, Pérez V, Saiz PA, García-Portilla MP, Bobes J, González-Pinto A, Zorrilla I, Haro JM, Bernardo M, Baca-García E, González JC, Hoenicka J, Moltó MD, Sanjuán J.

Schizophr Res. 2014 Oct;159(1):107-13. doi: 10.1016/j.schres.2014.07.004. Epub 2014 Aug 12.

PMID:
25124521
[PubMed - in process]
10.

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A.

Breast Cancer Res Treat. 2014 Aug;147(1):133-43. doi: 10.1007/s10549-014-3078-4. Epub 2014 Aug 3.

PMID:
25086635
[PubMed - in process]
11.

Development of a forensic skin colour predictive test.

Maroñas O, Phillips C, Söchtig J, Gomez-Tato A, Cruz R, Alvarez-Dios J, de Cal MC, Ruiz Y, Fondevila M, Carracedo Á, Lareu MV.

Forensic Sci Int Genet. 2014 Nov;13:34-44. doi: 10.1016/j.fsigen.2014.06.017. Epub 2014 Jul 10.

PMID:
25082135
[PubMed - in process]
12.

Predicting proliferative vitreoretinopathy: temporal and external validation of models based on genetic and clinical variables.

Rojas J, Fernandez I, Pastor JC, MacLaren RE, Ramkissoon Y, Harsum S, Charteris DG, Van Meurs JC, Amarakoon S, Garcia-Arumi J, Ruiz-Moreno JM, Rocha-Sousa A, Brion M, Carracedo A; Genetics on PVR Study Group (web file).

Br J Ophthalmol. 2015 Jan;99(1):41-8. doi: 10.1136/bjophthalmol-2014-305263. Epub 2014 Jul 29.

PMID:
25075124
[PubMed - in process]
13.

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]
14.

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 PMC Article
15.

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 JÁ, de Cal MC, Silbiger VN, Luchessi AD, Luchessi AD, Chiurillo MA, Carracedo Á, Lareu MV.

Forensic Sci Int Genet. 2014 Nov;13:3-9. doi: 10.1016/j.fsigen.2014.06.007. Epub 2014 Jul 3.

PMID:
25051225
[PubMed - in process]
16.

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 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.

PMID:
25046559
[PubMed - in process]
17.

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 Nov;134(5):1201-3. doi: 10.1016/j.jaci.2014.05.031. Epub 2014 Jul 14. No abstract available.

PMID:
25034406
[PubMed - in process]
18.

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. doi: 10.1126/scisignal.2005560.

PMID:
24985344
[PubMed - in process]
19.

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 Nov;35(21-22):3111-6. doi: 10.1002/elps.201400148. Epub 2014 Aug 6.

PMID:
24981977
[PubMed - in process]
20.

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

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