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Design of clone-specific probes from genome sequences for rapid PCR-typing of outbreak pathogens.
López-Camacho E, Rentero Z, Ruiz-Carrascoso G, Wesselink JJ, Pérez-Vázquez M, Lusa-Bernal S, Gómez-Puertas P, Kingsley RA, Gómez-Sánchez P, Campos J, Oteo J, Mingorance J. López-Camacho E, et al. Clin Microbiol Infect. 2014 Nov;20(11):O891-3. doi: 10.1111/1469-0691.12616. Epub 2014 Apr 4. Clin Microbiol Infect. 2014. PMID: 24606530 Free article.
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I, Ramos FJ, Casals N, Gómez-Puertas P, Hegardt FG, Pié J. Puisac B, et al. Mol Biol Rep. 2012 Apr;39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28. Mol Biol Rep. 2012. PMID: 21952825
The substrate recognition mechanisms in chaperonins.
Gómez-Puertas P, Martín-Benito J, Carrascosa JL, Willison KR, Valpuesta JM. Gómez-Puertas P, et al. J Mol Recognit. 2004 Mar-Apr;17(2):85-94. doi: 10.1002/jmr.654. J Mol Recognit. 2004. PMID: 15027029 Review.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. Pié J, et al. Am J Med Genet A. 2010 Apr;152A(4):924-9. doi: 10.1002/ajmg.a.33348. Am J Med Genet A. 2010. PMID: 20358602 Free PMC article.
Molecular genetics of HMG-CoA lyase deficiency.
Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, Ramos FJ, Hegardt FG, Gómez-Puertas P, Casals N. Pié J, et al. Mol Genet Metab. 2007 Nov;92(3):198-209. doi: 10.1016/j.ymgme.2007.06.020. Epub 2007 Aug 9. Mol Genet Metab. 2007. PMID: 17692550 Review.
134 results