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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: perez de nanclares g. PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013. PLoS One. 2013. PMID: 24058621 Free PMC article.
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, Leban N, Ben Romdane W, Gueddiche MN, El Amri F, Mrabet S, Ben Chibani J, Castaño L, Haj Khelil A, Ariceta G. Elhayek D, et al. Among authors: perez de nanclares g. BMC Med Genet. 2013 Nov 20;14:119. doi: 10.1186/1471-2350-14-119. BMC Med Genet. 2013. PMID: 24252324 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: perez de nanclares g. 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 Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.
Bellido V, Larrañaga I, Guimón M, Martinez-Conde R, Eguia A, Perez de Nanclares G, Castaño L, Gaztambide S. Bellido V, et al. Among authors: perez de nanclares g. Endocr Pathol. 2016 Jun;27(2):142-6. doi: 10.1007/s12022-016-9427-6. Endocr Pathol. 2016. PMID: 26995009
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: perez de nanclares 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.
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: perez de nanclares g. 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.
122 results