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Page 1
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. Among authors: madariaga l. PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013. PLoS One. 2013. PMID: 24058621 Free PMC article.
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, Fernández-Maseda Á, Antón-Gamero M, Avila A, Madrid Á, González-Acosta H, Córdoba-Lanus E, Santos F, Gil-Calvo M, Espino M, García-Martinez E, Sanchez A, Muley R; RenalTube Group. Claverie-Martín F, et al. PLoS One. 2013;8(1):e53151. doi: 10.1371/journal.pone.0053151. Epub 2013 Jan 3. PLoS One. 2013. PMID: 23301036 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. Among authors: madariaga l. 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. Among authors: madariaga l. PLoS One. 2017 Mar 13;12(3):e0173581. doi: 10.1371/journal.pone.0173581. eCollection 2017. PLoS One. 2017. PMID: 28288174 Free PMC article.
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia.
García-Castaño A, Madariaga L, Azriel S, Pérez de Nanclares G, Martínez de LaPiscina I, Martínez R, Urrutia I, Aguayo A, Gaztambide S, Castaño L. García-Castaño A, et al. Among authors: madariaga l. Endocrinol Diabetes Metab Case Rep. 2018;2018:18-0114. doi: 10.1530/EDM-18-0114. Epub 2018 Dec 5. Endocrinol Diabetes Metab Case Rep. 2018. PMID: 30530875 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.
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; Familial neurohypophyseal diabetes insipidus Spanish working group; Castaño L. García-Castaño A, et al. Among authors: madariaga l. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgaa069. doi: 10.1210/clinem/dgaa069. J Clin Endocrinol Metab. 2020. PMID: 32052034
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. Among authors: madariaga l. 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.
60 results