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single nucleotide polymorphism

29

"Leptin action in normal and pathological pregnancies" (2018) Pérez-Pérez, A.;Toro, A.;Vilariño-García, T. (...)Sánchez-Margalet, V. Journal of Cellular and Molecular Medicine. 22(2):716-727

"A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations" (2018) Pereira, R.;Alves, C.;Aler, M. (...)Gusmão, L. Forensic Science International: Genetics. 32:18-25

"New human isolates of Trypanosoma cruzi confirm the predominance of hybrid lineages in domestic transmission cycle of the Argentinean Chaco" (2018) Macchiaverna, N.P.;Enriquez, G.F.;Buscaglia, C.A. (...)Cardinal, M.V. Infection, Genetics and Evolution. 66:229-235

"The IFNG rs1861494 single nucleotide polymorphism is associated with protection against tuberculosis disease in Argentina" (2018) Rolandelli, A.;Pellegrini, J.M.;Amiano, N.O. (...)García, V.E. Genes. 9(1)

"The IFNG rs1861494 single nucleotide polymorphism is associated with protection against tuberculosis disease in Argentina" (2018) Rolandelli, A.;Pellegrini, J.M.;Amiano, N.O. (...)García, V.E. Genes. 9(1)

"Improving risk stratification of patients with childhood acute lymphoblastic leukemia: Glutathione-S-Transferases polymorphisms are associated with increased risk of relapse" (2017) Leonardi, D.B.;Abbate, M.;Riccheri, M.C. (...)Cotignola, J. Oncotarget. 8(1):110-117

"The IL-17A rs2275913 single nucleotide polymorphism is associated with protection to tuberculosis but related to higher disease severity in Argentina" (2017) Rolandelli, A.;Del Pino, R.E.H.;Pellegrini, J.M. (...)García, V.E. Scientific Reports. 7

"Single nucleotide polymorphisms may explain the contrasting phenotypes of two variants of a multidrug-resistant Mycobacterium tuberculosis strain" (2017) Bigi, M.M.;Lopez, B.;Blanco, F.C. (...)Soria, M.A. Tuberculosis. 103:28-36

"Main and epistatic QTL analyses for Sclerotinia Head Rot resistance in sunflower" (2017) Zubrzycki, J.E.;Maringolo, C.A.;Filippi, C.V. (...)Paniego, N.B. PLoS ONE. 12(12)

"Serotonergic polymorphisms: Allelic and genotypic frequency distribution in the Mar del Plata, Argentina, population and comparison of genotyping methods " (2017) Perez Maturo, J.; Videla, Y.; Di Gerónimo, V.; Quintana, S. BAG - Journal of Basic and Applied Genetics. 28(1):41-49

"Co-Expression of Wild-Type P2X7R with Gln460Arg Variant Alters Receptor Function" (2016) Aprile-Garcia, F.;Metzger, M.W.;Paez-Pereda, M. (...)Arzt, E. PloS one. 11(3):e0151862

"Global population divergence and admixture of the brown rat (Rattus norvegicus)" (2016) Puckett, E.E.;Park, J.;Combs, M. (...)Munshi-South, J. Proceedings of the Royal Society B: Biological Sciences. 283(1841)

"Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations" (2016) Bruque, C.D.;Delea, M.;Fernández, C.S. (...)Dain, L. Scientific Reports. 6

"Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients" (2016) Chaves, A.;Eberle, S.E.;Defelipe, L. (...)Feliú-Torres, A. Clinical Biochemistry. 49(10-11):808-810

"Mitochondrial genome architecture in non-alcoholic fatty liver disease" (2016) Sookoian, S.;Flichman, D.;Scian, R. (...)Pirola, C.J. Journal of Pathology. 240(4):437-449

"Population structure and genetic diversity characterization of a sunflower association mapping population using SSR and SNP markers" (2015) Filippi, C.V.;Aguirre, N.;Rivas, J.G. (...)Lia, V.V. BMC Plant Biology. 15(1)

"Analysis of five gene sets in chimpanzees suggests decoupling between the action of selection on protein-coding and on noncoding elements" (2015) Santpere, G.;Carnero-Montoro, E.;Petit, N. (...)Bosch, E. Genome Biology and Evolution. 7(6):1490-1505

"Acute intermittent porphyria in argentina: An update" (2015) Cerbino, G.N.;Gerez, E.N.;Varela, L.S. (...)Rossetti, M.V. BioMed Research International. 2015

"Epigenetic modifications in the biology of nonalcoholic fatty liver disease: The role of DNA hydroxymethylation and TET proteins" (2015) Pirola, C.J.;Scian, R.;Gianotti, T.F. (...)Sookoian, S. Medicine (United States). 94(36)

"Pre-Columbian mycobacterial genomes reveal seals as a source of New World human tuberculosis" (2014) Bos, K.I.;Harkins, K.M.;Herbig, A. (...)Krause, J. Nature. 514(7253):494-497

"Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures" (2014) McFarland, K.N.;Liu, J.;Landrian, I. (...)Ashizawa, T. Neurogenetics. 15(1):59-64

"De novo assembly and characterization of leaf transcriptome for the development of functional molecular markers of the extremophile multipurpose tree species Prosopis alba" (2013) Torales, S.L.;Rivarola, M.;Pomponio, M.F. (...)Poltri, S.N.M. BMC Genomics. 14(1)

"Glutathione-S-transferase (GST) polymorphisms are associated with relapse after radical prostatectomy" (2013) Cotignola, J.;Leonardi, D.B.;Shahabi, A. (...)Vazquez, E. Prostate Cancer and Prostatic Diseases. 16(1):28-34

"The revised Trypanosoma cruzi subspecific nomenclature: Rationale, epidemiological relevance and research applications" (2012) Zingales, B.;Miles, M.A.;Campbell, D.A. (...)Sturm, N.R. Infection, Genetics and Evolution. 12(2):240-253

"Functional Characterization of TLR4 +3725 G/C Polymorphism and Association with Protection against Overweight" (2012) Penas-Steinhardt, A.;Barcos, L.S.;Belforte, F.S. (...)Leskow, F.C. PLoS ONE. 7(12)

"International study to evaluate PCR methods for detection of Trypanosoma cruzi DNA in blood samples from Chagas disease patients" (2011) Schijman, A.G.;Bisio, M.;Orellana, L. (...)Ladzins, J. PLoS Neglected Tropical Diseases. 5(1)

"Identification of Single Nucleotide Polymorphisms and analysis of Linkage Disequilibrium in sunflower elite inbred lines using the candidate gene approach" (2008) Fusari, C.M.;Lia, V.V.;Hopp, H.E. (...)Paniego, N.B. BMC Plant Biology. 8

"The pathology of pre-mRNA splicing: A meeting in the Italian Alps. Workshop on Pre-mRNA Processing and Disease" (2007) Caceres, J.F.; Krainer, A.R.; Kornblihtt, A.R. EMBO Reports. 8(8):730-734

"Alternative splicing: Multiple control mechanisms and involvement in human disease" (2002) Cáceres, J.F.; Kornblihtt, A.R. Trends in Genetics. 18(4):186-193

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