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Current Status of Genetic Counselling for Rare Diseases in Spain.
Álvaro-Sánchez S, Abreu-Rodríguez I, Abulí A, Serra-Juhe C, Garrido-Navas MDC. Álvaro-Sánchez S, et al. Among authors: abreu rodriguez i. Diagnostics (Basel). 2021 Dec 9;11(12):2320. doi: 10.3390/diagnostics11122320. Diagnostics (Basel). 2021. PMID: 34943558 Free PMC article. Review.
Genetic analysis of CHCHD2 in a southern Spanish population.
Tejera-Parrado C, Jesús S, Huertas-Fernández I, Bernal-Bernal I, Bonilla-Toribio M, Córdoba-Tevar I, Abreu-Rodríguez I, Carrillo F, Bernal-Escudero M, Vargas-González L, Carballo M, Gómez-Garre P, Mir P. Tejera-Parrado C, et al. Among authors: abreu rodriguez i. Neurobiol Aging. 2017 Feb;50:169.e1-169.e2. doi: 10.1016/j.neurobiolaging.2016.10.019. Epub 2016 Oct 21. Neurobiol Aging. 2017. PMID: 27839904
A PTG variant contributes to a milder phenotype in Lafora disease.
Guerrero R, Vernia S, Sanz R, Abreu-Rodríguez I, Almaraz C, García-Hoyos M, Michelucci R, Tassinari CA, Riguzzi P, Nobile C, Sanz P, Serratosa JM, Gómez-Garre P. Guerrero R, et al. PLoS One. 2011;6(6):e21294. doi: 10.1371/journal.pone.0021294. Epub 2011 Jun 30. PLoS One. 2011. PMID: 21738631 Free PMC article.
Generation of renal Epo-producing cell lines by conditional gene tagging reveals rapid HIF-2 driven Epo kinetics, cell autonomous feedback regulation, and a telocyte phenotype.
Imeri F, Nolan KA, Bapst AM, Santambrogio S, Abreu-Rodríguez I, Spielmann P, Pfundstein S, Libertini S, Crowther L, Orlando IMC, Dahl SL, Keodara A, Kuo W, Kurtcuoglu V, Scholz CC, Qi W, Hummler E, Hoogewijs D, Wenger RH. Imeri F, et al. Among authors: abreu rodriguez i. Kidney Int. 2019 Feb;95(2):375-387. doi: 10.1016/j.kint.2018.08.043. Epub 2018 Nov 27. Kidney Int. 2019. PMID: 30502050 Free article.
11 results