Home

Publications

Export 348 results:
Author Title Type [ Year(Desc)]
Filters: First Letter Of Last Name is A  [Clear All Filters]
2013
Ariño J, Casamayor A, Pérez JPerez, et al. Assessing Differential Expression Measurements by Highly Parallel Pyrosequencing and DNA Microarrays: A Comparative Study. Omics : a journal of integrative biology. 2013. doi:10.1089/omi.2011.0065.
Ariño J, Casamayor A, Pérez JPerez, et al. Assessing Differential Expression Measurements by Highly Parallel Pyrosequencing and DNA Microarrays: A Comparative Study. Omics : a journal of integrative biology. 2013. doi:10.1089/omi.2011.0065.
Puig-Butille JAnton, Escamez MJosé, Garcia-Garcia F, et al. Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer. Oncotarget. 2013. Available at: http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path%5B%5D=1444&path%5B%5D=1824.
Aguerri M, Calzada D, Montaner D, et al. Differential gene-expression analysis defines a molecular pattern related to olive pollen allergy. J Biol Regul Homeost Agents. 2013;27(2):337-50.
Medina I, Salavert F, Sánchez R, et al. Genome Maps, a new generation genome browser. Nucleic acids research. 2013;41:W41-W46. doi:10.1093/nar/gkt530.
Silbiger VN, Luchessi AD, Hirata RDC, et al. Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Clin Chim Acta. 2013;421:184-90. doi:10.1016/j.cca.2013.03.011.
Silbiger VN, Luchessi AD, Hirata RDC, et al. Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome: Transcriptional profiling of acute coronary syndrome. Clinica chimica acta; international journal of clinical chemistry. 2013. doi:10.1016/j.cca.2013.03.011.
Fernández RM, Bleda M, Luzón-Toro B, et al. Pathways systematically associated to Hirschsprung’s disease. Orphanet journal of rare diseases. 2013;8:187. doi:10.1186/1750-1172-8-187.
Fernández RM, Bleda M, Luzón-Toro B, et al. Pathways systematically associated to Hirschsprung’s disease. Orphanet journal of rare diseases. 2013;8:187. doi:10.1186/1750-1172-8-187.
Fernández RM, Bleda M, Luzón-Toro B, et al. Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis. 2013;8:187. doi:10.1186/1750-1172-8-187.
Fernández RM, Bleda M, Luzón-Toro B, et al. Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis. 2013;8:187. doi:10.1186/1750-1172-8-187.
Méndez-Vidal C, del Pozo MGonzález-, Vela-Boza A, et al. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Molecular vision. 2013;19:2187-95. Available at: http://www.molvis.org/molvis/v19/2187/.
2014
Tárraga J, Arnau V, Martinez H, et al. Acceleration of short and long DNA read mapping without loss of accuracy using suffix array. Bioinformatics (Oxford, England). 2014;30:3396-3398. doi:10.1093/bioinformatics/btu553.
Iglesias JManuel, Leis O, Ruiz EPérez, et al. The Activation of the Sox2 RR2 Pluripotency Transcriptional Reporter in Human Breast Cancer Cell Lines is Dynamic and Labels Cells with Higher Tumorigenic Potential. Front Oncol. 2014;4:308. doi:10.3389/fonc.2014.00308.
del Pozo MGonzález-, Méndez-Vidal C, Santoyo-López J, et al. Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. Mol Genet Genomic Med. 2014;2(2):124-33. doi:10.1002/mgg3.50.
del Pozo MGonzález-, Méndez-Vidal C, Santoyo-López J, et al. Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family. Molecular Genetics & Genomic Medicine. 2014;2:124-133. doi:10.1002/mgg3.50.
del Pozo MGonzález-, Méndez-Vidal C, Bravo-Gil N, et al. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.
Tenorio J, Mansilla A, Valencia M, et al. A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
Calpena E, Martínez-Rubio D, Arpa J, et al. A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. Neuromuscular disorders : NMD. 2014;24:660-5. doi:10.1016/j.nmd.2014.04.004.
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
Torre I, González-Tendero A, García-Cañadilla P, et al. Permanent cardiac sarcomere changes in a rabbit model of intrauterine growth restriction. PLoS One. 2014;9(11):e113067. doi:10.1371/journal.pone.0113067.
Gutiérrez J, González-Pérez S, Garcia-Garcia F, et al. Programmed cell death activated by Rose Bengal in Arabidopsis thaliana cell suspension cultures requires functional chloroplasts. Journal of experimental botany. 2014. doi:10.1093/jxb/eru151.
García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.
García-Cazorla A, Oyarzabal A, Fort J, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.
García-Cazorla A, Oyarzabal A, Fort J, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.