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Results: 1 to 20 of 212

1.

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; The SOGRI Consortium, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.

Hum Mutat. 2014 Sep 5. doi: 10.1002/humu.22689. [Epub ahead of print]

PMID:
25196541
[PubMed - as supplied by publisher]
2.

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 Aug 20. pii: btu553. [Epub ahead of print]

PMID:
25143289
[PubMed - as supplied by publisher]
Free Article
3.

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 Aug 8. [Epub ahead of print]

PMID:
25106427
[PubMed - as supplied by publisher]
4.

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
5.

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]
6.

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 - in process]
Free Article
7.

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 - in process]
Free Article
8.

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
9.

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
10.

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 - in process]
11.

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]
12.

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
13.

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]
14.

Pathways systematically associated to Hirschsprung's disease.

Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, Borrego S.

Orphanet J Rare Dis. 2013 Dec 2;8:187. doi: 10.1186/1750-1172-8-187.

PMID:
24289864
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013.

PMID:
24227914
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mammosphere formation in breast carcinoma cell lines depends upon expression of E-cadherin.

Manuel Iglesias J, Beloqui I, Garcia-Garcia F, Leis O, Vazquez-Martin A, Eguiara A, Cufi S, Pavon A, Menendez JA, Dopazo J, Martin AG.

PLoS One. 2013 Oct 4;8(10):e77281. doi: 10.1371/journal.pone.0077281. eCollection 2013.

PMID:
24124614
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Intrauterine growth restriction is associated with cardiac ultrastructural and gene expression changes related to the energetic metabolism in a rabbit model.

Gonzalez-Tendero A, Torre I, Garcia-Canadilla P, Crispi F, García-García F, Dopazo J, Bijnens B, Gratacós E.

Am J Physiol Heart Circ Physiol. 2013 Dec;305(12):H1752-60. doi: 10.1152/ajpheart.00514.2013. Epub 2013 Oct 4.

PMID:
24097427
[PubMed - indexed for MEDLINE]
18.

Differential gene-expression analysis defines a molecular pattern related to olive pollen allergy.

Aguerri M, Calzada D, Montaner D, Mata M, Florido F, Quiralte J, Dopazo J, Lahoz C, Cardaba B.

J Biol Regul Homeost Agents. 2013 Apr-Jun;27(2):337-50.

PMID:
23830385
[PubMed - indexed for MEDLINE]
19.

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.

Puig-Butillé JA, Malvehy J, Potrony M, Trullas C, Garcia-García F, Dopazo J, Puig S.

Exp Dermatol. 2013 Jul;22(7):494-6. doi: 10.1111/exd.12177.

PMID:
23800065
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genomics and transcriptomics in drug discovery.

Dopazo J.

Drug Discov Today. 2014 Feb;19(2):126-32. doi: 10.1016/j.drudis.2013.06.003. Epub 2013 Jun 15.

PMID:
23773860
[PubMed - in process]

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