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Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S, García-Maset R, Ruíz P, Giménez I, Zamora I, Peña A, Madrid A, Camacho JA, Fraga G, Sánchez-Moreno A, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Pintos G, Justa ML, Hidalgo-Barquero E, Fernández-Llama P, Ballarín J, Ars E, Torra R; FSGS Spanish Study Group. Santín S, et al. Among authors: pintos g. Kidney Int. 2009 Dec;76(12):1268-76. doi: 10.1038/ki.2009.381. Epub 2009 Oct 7. Kidney Int. 2009. PMID: 19812541 Free article.
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R; FSGS Study Group; Zamora I, López-Hellin J, Madrid A, Ventura C, Vilalta R, Espinosa L, García C, Melgosa M, Navarro M, Giménez A, Cots JV, Alexandra S, Caramelo C, Egido J, San José MD, de la Cerda F, Sala P, Raspall F, Vila A, Daza AM, Vázquez M, Ecija JL, Espinosa M, Justa ML, Poveda R, Aparicio C, Rosell J, Muley R, Montenegro J, González D, Hidalgo E, de Frutos DB, Trillo E, Gracia S, de los Ríos FJ. Santín S, et al. Among authors: pintos g. Nephrol Dial Transplant. 2009 Oct;24(10):3089-96. doi: 10.1093/ndt/gfp229. Epub 2009 May 20. Nephrol Dial Transplant. 2009. PMID: 19458060
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid Á, Chocrón S, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, García Nieto V, Barajas de Frutos D, Loza R, Pintos G, Castaño L; RenalTube Group; Ariceta G. García Castaño A, et al. Among authors: pintos g. PLoS One. 2017 Mar 13;12(3):e0173581. doi: 10.1371/journal.pone.0173581. eCollection 2017. PLoS One. 2017. PMID: 28288174 Free PMC article.
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E. Castellanos E, et al. Among authors: pintos g. Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31573083
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Pajares S, et al. Among authors: pintos g. Mol Genet Metab. 2012 Jun;106(2):196-201. doi: 10.1016/j.ymgme.2012.03.006. Epub 2012 Mar 24. Mol Genet Metab. 2012. PMID: 22521955
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, García-Volpe C, Pintos G, Peña-Quintana L, Hernández T, Gil D, Sánchez-Valverde F, Bueno M, Roca I, López-Ruzafa E, Díaz-Fernández C. Couce ML, et al. Among authors: pintos g. Medicine (Baltimore). 2019 Sep;98(39):e17303. doi: 10.1097/MD.0000000000017303. Medicine (Baltimore). 2019. PMID: 31574857 Free PMC article.
38 results