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Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R; European NDI Consortium; Bockenhauer D. Lopez-Garcia SC, et al. Among authors: madariaga l. Nephrol Dial Transplant. 2020 Dec 26:gfaa243. doi: 10.1093/ndt/gfaa243. Online ahead of print. Nephrol Dial Transplant. 2020. PMID: 33367818
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
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.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Vall-Palomar M, Madariaga L, Ariceta G. Vall-Palomar M, et al. Among authors: madariaga l. Pediatr Nephrol. 2021 Oct;36(10):3045-3055. doi: 10.1007/s00467-021-04968-2. Epub 2021 Feb 17. Pediatr Nephrol. 2021. PMID: 33595712 Review.
Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.
Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, García-Ledesma P, Martín-Penagos L, Dall'Anese C, Ariceta G, Castaño L, Madariaga L. Gómez-Conde S, et al. Among authors: madariaga l. Pediatr Nephrol. 2021 Oct;36(10):3133-3142. doi: 10.1007/s00467-021-05066-z. Epub 2021 Apr 21. Pediatr Nephrol. 2021. PMID: 33881640
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
Domingo-Gallego A, Pybus M, Madariaga L, Piñero-Fernández JA, González-Pastor S, López-González M, Simarro-Rueda E, Quintanilla-Mata ML, Matoses-Ruipérez ML, Ejarque-Vila L, Cornec-Le Gall E, Guirado L, Torra R, Ariceta G, Ars E. Domingo-Gallego A, et al. Among authors: madariaga l. Nephrol Dial Transplant. 2022 Sep 22;37(10):1906-1915. doi: 10.1093/ndt/gfab285. Nephrol Dial Transplant. 2022. PMID: 34610128
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
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Rodríguez-Rubio E, Gil-Peña H, Chocron S, Madariaga L, de la Cerda-Ojeda F, Fernández-Fernández M, de Lucas-Collantes C, Gil M, Luis-Yanes MI, Vergara I, González-Rodríguez JD, Ferrando S, Antón-Gamero M, Carrasco Hidalgo-Barquero M, Fernández-Escribano A, Fernández-Maseda MÁ, Espinosa L, Oliet A, Vicente A, Ariceta G, Santos F; RenalTubeGroup. Rodríguez-Rubio E, et al. Among authors: madariaga l. Orphanet J Rare Dis. 2021 Feb 27;16(1):104. doi: 10.1186/s13023-021-01729-0. Orphanet J Rare Dis. 2021. PMID: 33639975 Free PMC article.
59 results