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Page 1
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A. Peña-Quintana L, et al. Among authors: tugores a. Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18. Clin Genet. 2017. PMID: 28255985
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
García-Villarreal L, Hernández-Ortega A, Sánchez-Monteagudo A, Peña-Quintana L, Ramírez-Lorenzo T, Riaño M, Moreno-Pérez R, Monescillo A, González-Santana D, Quiñones I, Sánchez-Villegas A, Olmo-Quintana V, Garay-Sánchez P, Espinós C, González JM, Tugores A. García-Villarreal L, et al. Among authors: tugores a. J Gastroenterol. 2021 Jan;56(1):78-89. doi: 10.1007/s00535-020-01745-0. Epub 2020 Nov 7. J Gastroenterol. 2021. PMID: 33159804
Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.
Peña-Quintana L, García-Luzardo MR, García-Villarreal L, Arias-Santos MD, Garay-Sánchez P, Santana A, González-Santana D, Ramos-Varela JC, Rial-González R, Tugores A. Peña-Quintana L, et al. Among authors: tugores a. J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):48-54. doi: 10.1097/MPG.0b013e318230130c. J Pediatr Gastroenterol Nutr. 2012. PMID: 21832955
The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.
Sánchez-Hernández RM, Tugores A, Nóvoa FJ, Brito-Casillas Y, Expósito-Montesdeoca AB, Garay P, Bea AM, Riaño M, Pocovi M, Civeira F, Wägner AM, Boronat M. Sánchez-Hernández RM, et al. Among authors: tugores a. J Clin Lipidol. 2019 Jul-Aug;13(4):618-626. doi: 10.1016/j.jacl.2019.04.099. Epub 2019 May 8. J Clin Lipidol. 2019. PMID: 31153816
CYP2C19 or CYP3A5 Genotyping Does Not Predict Clinical Response to Clopidogrel.
Rodríguez-González F, Martínez-Quintana E, Saavedra P, Medina-Gil JM, Riaño M, Garay-Sánchez P, Tugores A. Rodríguez-González F, et al. Among authors: tugores a. J Clin Pharmacol. 2018 Oct;58(10):1274-1283. doi: 10.1002/jcph.1144. Epub 2018 May 3. J Clin Pharmacol. 2018. PMID: 29723426 Clinical Trial.
Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.
Martínez-Quintana E, Rodríguez-González F, Garay-Sánchez P, Tugores A. Martínez-Quintana E, et al. Among authors: tugores a. Mol Syndromol. 2014 Jan;5(1):36-40. doi: 10.1159/000355431. Epub 2013 Oct 4. Mol Syndromol. 2014. PMID: 24550764 Free PMC article.
63 results