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105 results

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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: espino m. PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013. PLoS One. 2013. PMID: 24058621 Free PMC article.
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: espino m. PLoS One. 2017 Mar 13;12(3):e0173581. doi: 10.1371/journal.pone.0173581. eCollection 2017. PLoS One. 2017. PMID: 28288174 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. Among authors: espino m. 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: espino m. 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
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
Gil-Peña H, Coto E, Santos F, Espino M, Cea Crespo JM, Chantzopoulos G, Komianou F, Gómez J, Alonso B, Iglesias S, Treard C, Vargas-Poussou R; Renaltube Group. Gil-Peña H, et al. Among authors: espino m. Nefrologia. 2017 Jul-Aug;37(4):423-428. doi: 10.1016/j.nefro.2017.01.007. Epub 2017 Mar 18. Nefrologia. 2017. PMID: 28325561 Free article. English, Spanish.
Serum biomarkers at disease onset for personalized therapy in multiple sclerosis.
Monreal E, Fernández-Velasco JI, Álvarez-Lafuente R, Sainz de la Maza S, García-Sánchez MI, Llufriu S, Casanova B, Comabella M, Martínez-Yélamos S, Galimberti D, Ramió-Torrentà L, Martínez-Ginés ML, Aladro Y, Ayuso L, Martínez-Rodríguez JE, Brieva L, Villarrubia N, Eichau S, Zamora J, Rodero-Romero A, Espiño M, Blanco Y, Saiz A, Montalbán X, Tintoré M, Domínguez-Mozo MI, Cuello JP, Romero-Pinel L, Ghezzi L, Pilo de la Fuente B, Pérez-Miralles F, Quiroga-Varela A, Rubio L, Rodríguez-Jorge F, Chico-García JL, Sainz-Amo R, Masjuan J, Costa-Frossard L, Villar LM. Monreal E, et al. Among authors: espino m. Brain. 2024 Aug 5:awae260. doi: 10.1093/brain/awae260. Online ahead of print. Brain. 2024. PMID: 39101570
The Combined Immunohistochemical Expression of GLI1 and BCOR in Synovial Sarcomas for the Identification of Three Risk Groups and Their Prognostic Outcomes: A Study of 52 Patients.
Giner F, Medina-Ceballos E, López-Reig R, Machado I, López-Guerrero JA, Navarro S, Rubio-Martínez LA, Espino M, Mayordomo-Aranda E, Llombart-Bosch A. Giner F, et al. Among authors: espino m. Int J Mol Sci. 2024 Jul 11;25(14):7615. doi: 10.3390/ijms25147615. Int J Mol Sci. 2024. PMID: 39062853 Free PMC article.
Author Correction: Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.
Sánchez R, Dorado S, Ruíz-Heredia Y, Martín-Muñoz A, Rosa-Rosa JM, Ribera J, García O, Jimenez-Ubieto A, Carreño-Tarragona G, Linares M, Rufián L, Juárez A, Carrillo J, Espino MJ, Cáceres M, Expósito S, Cuevas B, Vanegas R, Casado LF, Torrent A, Zamora L, Mercadal S, Coll R, Cervera M, Morgades M, Hernández-Rivas JÁ, Bravo P, Serí C, Anguita E, Barragán E, Sargas C, Ferrer-Marín F, Sánchez-Calero J, Sevilla J, Ruíz E, Villalón L, Del Mar Herráez M, Riaza R, Magro E, Steegman JL, Wang C, de Toledo P, García-Gutiérrez V, Ayala R, Ribera JM, Barrio S, Martínez-López J. Sánchez R, et al. Among authors: espino mj. Sci Rep. 2024 Mar 28;14(1):7400. doi: 10.1038/s41598-024-57570-5. Sci Rep. 2024. PMID: 38548834 Free PMC article. No abstract available.
105 results