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Results: 1 to 20 of 569

1.

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Allegue C, Coll M, Mates J, Campuzano O, Iglesias A, Sobrino B, Brion M, Amigo J, Carracedo A, Brugada P, Brugada J, Brugada R.

PLoS One. 2015 Jul 31;10(7):e0133037. doi: 10.1371/journal.pone.0133037. eCollection 2015.

2.

PTEN mediates Notch-dependent stalk cell arrest in angiogenesis.

Serra H, Chivite I, Angulo-Urarte A, Soler A, Sutherland JD, Arruabarrena-Aristorena A, Ragab A, Lim R, Malumbres M, Fruttiger M, Potente M, Serrano M, Fabra À, Viñals F, Casanovas O, Pandolfi PP, Bigas A, Carracedo A, Gerhardt H, Graupera M.

Nat Commun. 2015 Jul 31;6:7935. doi: 10.1038/ncomms8935.

PMID:
26228240
3.

Alcohol Limits and Public Safety.

Maroñas O, Söchtig J, Ruiz Y, Phillips C, Carracedo Á, Lareu MV.

Forensic Sci Rev. 2015 Jan;27(1):13-40. Review.

PMID:
26227136
4.

Long Survival and Severe Toxicity Under 5-Fluorouracil-Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS.

Balboa-Beltrán E, Duran G, Lamas MJ, Carracedo A, Barros F.

Mayo Clin Proc. 2015 Jul 22. pii: S0025-6196(15)00379-1. doi: 10.1016/j.mayocp.2015.05.005. [Epub ahead of print]

PMID:
26210704
5.

Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data.

Phillips C, Amigo J, Carracedo Á, Lareu MV.

Forensic Sci Int Genet. 2015 Jul 13;19:100-106. doi: 10.1016/j.fsigen.2015.06.011. [Epub ahead of print]

PMID:
26209763
6.

Mosaic maternal ancestry in the Great Lakes region of East Africa.

Gomes V, Pala M, Salas A, Álvarez-Iglesias V, Amorim A, Gómez-Carballa A, Carracedo Á, Clarke DJ, Hill C, Mormina M, Shaw MA, Dunne DW, Pereira R, Pereira V, Prata MJ, Sánchez-Diz P, Rito T, Soares P, Gusmão L, Richards MB.

Hum Genet. 2015 Jul 19. [Epub ahead of print]

PMID:
26188410
7.

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

Quintela I, Fernandez-Prieto M, Gomez-Guerrero L, Resches M, Eiris J, Barros F, Carracedo A.

Clin Case Rep. 2015 Jun;3(6):415-23. doi: 10.1002/ccr3.255. Epub 2015 Apr 9.

8.

Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.

Balboa-Beltrán E, Cruz R, Carracedo A, Barros F.

Medicine (Baltimore). 2015 Jul;94(27):e1091. doi: 10.1097/MD.0000000000001091.

PMID:
26166093
9.

Exploration of SNP variants affecting hair colour prediction in Europeans.

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

Int J Legal Med. 2015 Jul 11. [Epub ahead of print]

PMID:
26162598
10.

[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].

Quintela I, Barros-Angueira F, Perez-Gay L, Castro-Gago M, Carracedo A, Eiris-Punal J.

Rev Neurol. 2015 Jul 16;61(2):94-6. Spanish.

PMID:
26156445
11.

Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: Results of a collaborative EDNAP exercise.

Santos C, Fondevila M, Ballard D, Banemann R, Bento AM, Børsting C, Branicki W, Brisighelli F, Burrington M, Capal T, Chaitanya L, Daniel R, Decroyer V, England R, Gettings KB, Gross TE, Haas C, Harteveld J, Hoff-Olsen P, Hoffmann A, Kayser M, Kohler P, Linacre A, Mayr-Eduardoff M, McGovern C, Morling N, O'Donnell G, Parson W, Pascali VL, Porto MJ, Roseth A, Schneider PM, Sijen T, Stenzl V, Court DS, Templeton JE, Turanska M, Vallone PM, Oorschot RA, Zatkalikova L, Carracedo Á, Phillips C; EUROFORGEN-NoE Consortium.

Forensic Sci Int Genet. 2015 Jun 15;19:56-67. doi: 10.1016/j.fsigen.2015.06.004. [Epub ahead of print]

PMID:
26122263
12.

Fine mapping of the myosin light chain kinase gene (MYLK) replicates the association with asthma in populations of Spanish descent.

Acosta-Herrera M, Pino-Yanes M, Ma SF, Barreto-Luis A, Corrales A, Cumplido J, Pérez-Rodríguez E, Campo P, Eng C, García-Robaina JC, Quintela I, Villar J, Blanca M, Carracedo Á, Carrillo T, Garcia JG, Torgerson DG, Burchard EG, Flores C.

J Allergy Clin Immunol. 2015 May 26. pii: S0091-6749(15)00587-4. doi: 10.1016/j.jaci.2015.04.025. [Epub ahead of print] No abstract available.

PMID:
26025125
13.

Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness.

Marcińska M, Pośpiech E, Abidi S, Andersen JD, van den Berge M, Carracedo Á, Eduardoff M, Marczakiewicz-Lustig A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N; EUROFORGEN-NoE Consortium, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W.

PLoS One. 2015 May 22;10(5):e0127852. doi: 10.1371/journal.pone.0127852. eCollection 2015.

14.

The promyelocytic leukemia protein is upregulated in conditions of obesity and liver steatosis.

Carracedo A, Rousseau D, Douris N, Fernández-Ruiz S, Martín-Martín N, Weiss D, Webster K, Adams AC, Vazquez-Chantada M, Martinez-Chantar ML, Anty R, Tran A, Maratos-Flier E, Gual P, Pandolfi PP.

Int J Biol Sci. 2015 Apr 11;11(6):629-32. doi: 10.7150/ijbs.11615. eCollection 2015. No abstract available.

15.

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.

Hernandez-Ferrer C, Quintela Garcia I, Danielski K, Carracedo Á, Pérez-Jurado LA, González JR.

BMC Bioinformatics. 2015 May 20;16:167. doi: 10.1186/s12859-015-0608-y.

16.

Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM™.

Eduardoff M, Santos C, de la Puente M, Gross TE, Fondevila M, Strobl C, Sobrino B, Ballard D, Schneider PM, Carracedo Á, Lareu MV, Parson W, Phillips C.

Forensic Sci Int Genet. 2015 Jul;17:110-21. doi: 10.1016/j.fsigen.2015.04.007. Epub 2015 Apr 15.

PMID:
25955683
17.

Inferior frontal gyrus white matter abnormalities in obsessive-compulsive disorder.

Gonçalves ÓF, Sousa S, Maia L, Carvalho S, Leite J, Ganho A, Fernandes-Gonçalves A, Frank B, Pocinho F, Carracedo A, Sampaio A.

Neuroreport. 2015 Jun 17;26(9):495-500. doi: 10.1097/WNR.0000000000000377.

PMID:
25945482
18.

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

Suárez-Rama JJ, Arrojo M, Sobrino B, Amigo J, Brenlla J, Agra S, Paz E, Brión M, Carracedo Á, Páramo M, Costas J.

J Psychiatr Res. 2015 Jul-Aug;66-67:38-44. doi: 10.1016/j.jpsychires.2015.04.013. Epub 2015 Apr 22.

PMID:
25943950
19.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G.

Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.

PMID:
25938945
20.

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.

Sanchez-Juan P, Bishop MT, Kovacs GG, Calero M, Aulchenko YS, Ladogana A, Boyd A, Lewis V, Ponto C, Calero O, Poleggi A, Carracedo Á, van der Lee SJ, Ströbel T, Rivadeneira F, Hofman A, Haïk S, Combarros O, Berciano J, Uitterlinden AG, Collins SJ, Budka H, Brandel JP, Laplanche JL, Pocchiari M, Zerr I, Knight RS, Will RG, van Duijn CM.

PLoS One. 2015 Apr 28;10(4):e0123654. doi: 10.1371/journal.pone.0123654. eCollection 2014.

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