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Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant.
de Frutos F, Diez-Lopez C, García-Romero E, Gondra L, Madariaga L, Ariceta G, García-Castaño A, Melilli E, Herrador L, Triguero-Llonch L, Gran F, Rosenfeld L, Llatjos R, Comin-Colet J, González-Costello J. de Frutos F, et al. Among authors: garcia castano a. Circ Genom Precis Med. 2024 Apr;17(2):e004336. doi: 10.1161/CIRCGEN.123.004336. Epub 2024 Feb 19. Circ Genom Precis Med. 2024. PMID: 38372174 No abstract available.
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G; RenalTube Group. García Castaño A, et al. PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013. PLoS One. 2013. PMID: 24058621 Free PMC article.
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G; RenalTube Group. García Castaño A, et al. Eur J Pediatr. 2015 Oct;174(10):1373-85. doi: 10.1007/s00431-015-2534-4. Epub 2015 Apr 23. Eur J Pediatr. 2015. PMID: 25902753
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. PLoS One. 2017 Mar 13;12(3):e0173581. doi: 10.1371/journal.pone.0173581. eCollection 2017. PLoS One. 2017. PMID: 28288174 Free PMC article.
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract.
Madariaga L, García-Castaño A, Ariceta G, Martínez-Salazar R, Aguayo A, Castaño L; Spanish group for the study of HNF1B mutations. Madariaga L, et al. Clin Kidney J. 2018 Nov 13;12(3):373-379. doi: 10.1093/ckj/sfy102. eCollection 2019 Jun. Clin Kidney J. 2018. PMID: 31198537 Free PMC article.
Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus.
García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O, Castaño L. García-Castaño A, et al. J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa255. doi: 10.1210/clinem/dgaa255. J Clin Endocrinol Metab. 2020. PMID: 32392319 No abstract available.
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