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Page 1
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: lapunzina 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
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: lapunzina p. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Among authors: lapunzina p. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
Riancho-Zarrabeitia L, García-Unzueta M, Tenorio JA, Gómez-Gerique JA, Ruiz Pérez VL, Heath KE, Lapunzina P, Riancho JA. Riancho-Zarrabeitia L, et al. Among authors: lapunzina p. Eur J Intern Med. 2016 Apr;29:40-5. doi: 10.1016/j.ejim.2015.12.019. Epub 2016 Jan 11. Eur J Intern Med. 2016. PMID: 26783040 Free article.
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: lapunzina 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.
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: lapunzina 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
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: lapunzina 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
296 results