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Results: 1 to 20 of 219

1.

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.

BMC Genet. 2014 Dec 14;15(1):143. [Epub ahead of print]

PMID:
25494902
[PubMed - as supplied by publisher]
Free PMC Article
2.

The Activation of the Sox2 RR2 Pluripotency Transcriptional Reporter in Human Breast Cancer Cell Lines is Dynamic and Labels Cells with Higher Tumorigenic Potential.

Iglesias JM, Leis O, Pérez Ruiz E, Gumuzio Barrie J, Garcia-Garcia F, Aduriz A, Beloqui I, Hernandez-Garcia S, Lopez-Mato MP, Dopazo J, Pandiella A, Menendez JA, Martin AG.

Front Oncol. 2014 Nov 4;4:308. doi: 10.3389/fonc.2014.00308. eCollection 2014.

PMID:
25414831
[PubMed]
Free PMC Article
3.

Permanent cardiac sarcomere changes in a rabbit model of intrauterine growth restriction.

Torre I, González-Tendero A, García-Cañadilla P, Crispi F, García-García F, Bijnens B, Iruretagoyena I, Dopazo J, Amat-Roldán I, Gratacós E.

PLoS One. 2014 Nov 17;9(11):e113067. doi: 10.1371/journal.pone.0113067. eCollection 2014.

PMID:
25402351
[PubMed - in process]
Free PMC Article
4.

PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins.

Minguez P, Letunic I, Parca L, Garcia-Alonso L, Dopazo J, Huerta-Cepas J, Bork P.

Nucleic Acids Res. 2014 Oct 31. pii: gku1081. [Epub ahead of print]

PMID:
25361965
[PubMed - as supplied by publisher]
Free Article
5.

Understanding disease mechanisms with models of signaling pathway activities.

Sebastian-Leon P, Vidal E, Minguez P, Conesa A, Tarazona S, Amadoz A, Armero C, Salavert F, Vidal-Puig A, Montaner D, Dopazo J.

BMC Syst Biol. 2014 Oct 25;8(1):121. [Epub ahead of print]

PMID:
25344409
[PubMed - as supplied by publisher]
Free PMC Article
6.

The role of the interactome in the maintenance of deleterious variability in human populations.

Garcia-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, Vela-Boza A, Santoyo-López J, Antiñolo G, Dopazo J.

Mol Syst Biol. 2014 Sep 26;10:752. doi: 10.15252/msb.20145222.

PMID:
25261458
[PubMed - in process]
Free Article
7.

Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures.

Munro SA, Lund SP, Pine PS, Binder H, Clevert DA, Conesa A, Dopazo J, Fasold M, Hochreiter S, Hong H, Jafari N, Kreil DP, Łabaj PP, Li S, Liao Y, Lin SM, Meehan J, Mason CE, Santoyo-Lopez J, Setterquist RA, Shi L, Shi W, Smyth GK, Stralis-Pavese N, Su Z, Tong W, Wang C, Wang J, Xu J, Ye Z, Yang Y, Yu Y, Salit M.

Nat Commun. 2014 Sep 25;5:5125. doi: 10.1038/ncomms6125.

PMID:
25254650
[PubMed - in process]
8.

A New Overgrowth Syndrome is due to Mutations in RNF125.

Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, Del Pozo A, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.

Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

PMID:
25196541
[PubMed - in process]
9.

Acceleration of short and long DNA read mapping without loss of accuracy using suffix array.

Tárraga J, Arnau V, Martínez H, Moreno R, Cazorla D, Salavert-Torres J, Blanquer-Espert I, Dopazo J, Medina I.

Bioinformatics. 2014 Dec 1;30(23):3396-8. doi: 10.1093/bioinformatics/btu553. Epub 2014 Aug 20.

PMID:
25143289
[PubMed - in process]
Free Article
10.

A comprehensive DNA methylation profile of epithelial-to-mesenchymal transition.

Carmona FJ, Davalos V, Vidal E, Gomez A, Heyn H, Hashimoto Y, Vizoso M, Martinez-Cardus A, Sayols S, Ferreira HJ, Sánchez-Mut JV, Morán S, Margelí M, Castella E, Berdasco M, Stefansson OA, Eyfjord JE, Gonzalez-Suarez E, Dopazo J, Orozco M, Gut IG, Esteller M.

Cancer Res. 2014 Oct 1;74(19):5608-19. doi: 10.1158/0008-5472.CAN-13-3659. Epub 2014 Aug 8.

PMID:
25106427
[PubMed - in process]
11.

Pathway network inference from gene expression data.

Ponzoni I, Nueda M, Tarazona S, Götz S, Montaner D, Dussaut J, Dopazo J, Conesa A.

BMC Syst Biol. 2014;8 Suppl 2:S7. doi: 10.1186/1752-0509-8-S2-S7. Epub 2014 Mar 13.

PMID:
25032889
[PubMed - in process]
Free PMC Article
12.

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

Calpena E, Martínez-Rubio D, Arpa J, García-Peñas JJ, Montaner D, Dopazo J, Palau F, Espinós C.

Neuromuscul Disord. 2014 Aug;24(8):660-5. doi: 10.1016/j.nmd.2014.04.004. Epub 2014 May 9.

PMID:
24878226
[PubMed - in process]
13.

A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications.

Alemán A, Garcia-Garcia F, Medina I, Dopazo J.

Nucleic Acids Res. 2014 Jul;42(Web Server issue):W83-7. doi: 10.1093/nar/gku472. Epub 2014 May 26.

PMID:
24861626
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.

Alemán A, Garcia-Garcia F, Salavert F, Medina I, Dopazo J.

Nucleic Acids Res. 2014 Jul;42(Web Server issue):W88-93. doi: 10.1093/nar/gku407. Epub 2014 May 6.

PMID:
24803668
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer.

Puig-Butille JA, Escámez MJ, Garcia-Garcia F, Tell-Marti G, Fabra À, Martínez-Santamaría L, Badenas C, Aguilera P, Pevida M, Dopazo J, del Río M, Puig S.

Oncotarget. 2014 Mar 30;5(6):1439-51.

PMID:
24742402
[PubMed - in process]
Free PMC Article
16.

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.

González-Del Pozo M, Méndez-Vidal C, Santoyo-Lopez J, Vela-Boza A, Bravo-Gil N, Rueda A, García-Alonso L, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Genet Genomic Med. 2014 Mar;2(2):124-33. doi: 10.1002/mgg3.50. Epub 2013 Dec 3.

PMID:
24689075
[PubMed]
Free PMC Article
17.

ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.

López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-Lopez J.

Bioinformatics. 2014 Jun 15;30(12):1767-8. doi: 10.1093/bioinformatics/btu108. Epub 2014 Feb 26.

PMID:
24578402
[PubMed - indexed for MEDLINE]
18.

Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia.

Larriba E, Jaime MD, Carbonell-Caballero J, Conesa A, Dopazo J, Nislow C, Martín-Nieto J, Lopez-Llorca LV.

Fungal Genet Biol. 2014 Apr;65:69-80. doi: 10.1016/j.fgb.2014.02.002. Epub 2014 Feb 13.

PMID:
24530791
[PubMed - in process]
19.

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

de Castro-Miró M, Pomares E, Lorés-Motta L, Tonda R, Dopazo J, Marfany G, Gonzàlez-Duarte R.

PLoS One. 2014 Feb 7;9(2):e88410. doi: 10.1371/journal.pone.0088410. eCollection 2014.

PMID:
24516651
[PubMed - in process]
Free PMC Article
20.

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.

García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.

Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5.

PMID:
24449431
[PubMed - in process]
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