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Page 1
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons C, Armstrong J, Barrios D, Díaz-Flores F, Tirado P, Couce ML, Gutiérrez-Solana LG. Hortigüela M, et al. J Hum Genet. 2017 Feb;62(2):185-189. doi: 10.1038/jhg.2016.104. Epub 2016 Aug 18. J Hum Genet. 2017. PMID: 27535030
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, Cesar S, Carro E, Brugada J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O, Brugada R. Mates J, et al. Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511324 Free PMC article.
Most HIV type 1 non-B infections in the Spanish cohort of antiretroviral treatment-naïve HIV-infected patients (CoRIS) are due to recombinant viruses.
Yebra G, de Mulder M, Martín L, Rodríguez C, Labarga P, Viciana I, Berenguer J, Alemán MR, Pineda JA, García F, Holguín A; Cohort of the Spanish AIDS Research Network (CoRIS). Yebra G, et al. J Clin Microbiol. 2012 Feb;50(2):407-13. doi: 10.1128/JCM.05798-11. Epub 2011 Dec 7. J Clin Microbiol. 2012. PMID: 22162552 Free PMC article.
Use of Generic Antiretroviral Drugs and Single-Tablet Regimen De-Simplification for the Treatment of HIV Infection in Spain.
Ruiz-Algueró M, Alejos B, García Yubero C, Riera Jaume M, Antonio Iribarren J, Asensi V, Pasquau F, Galera CE, Pascual-Carrasco M, Muñoz A, Jarrín I, Suárez-García I; CoRIS Cohort. Ruiz-Algueró M, et al. AIDS Res Hum Retroviruses. 2022 Jun;38(6):433-440. doi: 10.1089/AID.2021.0122. Epub 2022 May 2. AIDS Res Hum Retroviruses. 2022. PMID: 35357907
High efficacy of resistance-guided retreatment of HCV patients failing NS5A inhibitors in the real world.
Pérez AB, Chueca N, García-Deltoro M, Martínez-Sapiña AM, Lara-Pérez MM, García-Bujalance S, Aldámiz-Echevarría T, Vera-Méndez FJ, Pineda JA, Casado M, Pascasio JM, Salmerón J, Alados-Arboledas JC, Poyato A, Téllez F, Rivero-Juárez A, Merino D, Vivancos-Gallego MJ, Rosales-Zábal JM, García F; GEHEP-004 Study Group. Pérez AB, et al. J Hepatol. 2019 Nov;71(5):876-888. doi: 10.1016/j.jhep.2019.06.022. Epub 2019 Jul 4. J Hepatol. 2019. PMID: 31279901
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