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284 results

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Page 1
Analytical validation of a laboratory-development multigene pharmacogenetic assay.
Rosas-Alonso R, Queiruga J, Arias P, Del Monte Á, Yuste F, Rodríguez-Antolín C, Losantos-Garcia I, Borobia AM, Rodríguez-Nóvoa S. Rosas-Alonso R, et al. Among authors: arias p. Pharmacogenet Genomics. 2021 Oct 1;31(8):177-184. doi: 10.1097/FPC.0000000000000438. Pharmacogenet Genomics. 2021. PMID: 34116532
Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.
Borobia AM, Dapia I, Tong HY, Arias P, Muñoz M, Tenorio J, Hernández R, García García I, Gordo G, Ramírez E, Frías J, Lapunzina P, Carcas AJ. Borobia AM, et al. Among authors: arias p. Clin Transl Sci. 2018 Mar;11(2):189-199. doi: 10.1111/cts.12526. Epub 2017 Nov 28. Clin Transl Sci. 2018. PMID: 29193749 Free PMC article.
Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population.
Dapía I, García I, Martinez JC, Arias P, Guerra P, Díaz L, García A, Ochoa D, Tenorio J, Ramírez E, Román M, Gordo G, Saiz-Rodríguez M, Frías J, Abad-Santos F, Lapunzina P, Carcas AJ, Borobia AM. Dapía I, et al. Among authors: arias p. Int J Antimicrob Agents. 2019 Oct;54(4):463-470. doi: 10.1016/j.ijantimicag.2019.06.026. Epub 2019 Jul 4. Int J Antimicrob Agents. 2019. PMID: 31279853
Molecular characterization of breast cancer cell response to metabolic drugs.
Trilla-Fuertes L, Gámez-Pozo A, Arevalillo JM, Díaz-Almirón M, Prado-Vázquez G, Zapater-Moros A, Navarro H, Aras-López R, Dapía I, López-Vacas R, Nanni P, Llorente-Armijo S, Arias P, Borobia AM, Maín P, Feliú J, Espinosa E, Fresno Vara JÁ. Trilla-Fuertes L, et al. Among authors: arias p. Oncotarget. 2018 Jan 8;9(11):9645-9660. doi: 10.18632/oncotarget.24047. eCollection 2018 Feb 9. Oncotarget. 2018. PMID: 29515760 Free PMC article.
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P. Tenorio J, et al. Among authors: arias p. Am J Med Genet A. 2017 Mar;173(3):601-610. doi: 10.1002/ajmg.a.37991. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127875
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium; Lapunzina P. Tenorio J, et al. Among authors: arias p. Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29. Clin Genet. 2019. PMID: 30628072
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium; Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Tenorio J, et al. Among authors: arias p. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. Clin Genet. 2020. PMID: 31972898
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium; Monk D, Lapunzina P. Tenorio J, et al. Among authors: arias p. Am J Med Genet A. 2016 Oct;170(10):2740-9. doi: 10.1002/ajmg.a.37852. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27480579
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 Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Among authors: arias p. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.
Navas P, Tenorio J, Quezada CA, Barrios E, Gordo G, Arias P, López Meseguer M, Santos-Lozano A, Palomino Doza J, Lapunzina P, Escribano Subías P. Navas P, et al. Among authors: arias p. Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1011-1019. doi: 10.1016/j.rec.2016.03.029. Epub 2016 Jul 21. Rev Esp Cardiol (Engl Ed). 2016. PMID: 27453251 English, Spanish.
284 results