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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: castano l. BMC Med Genet. 2013 Nov 20;14:119. doi: 10.1186/1471-2350-14-119. BMC Med Genet. 2013. PMID: 24252324 Free PMC article.
Panhypopituitarism: genetic versus acquired etiological factors.
Coya R, Vela A, Pérez de Nanclares G, Rica I, Castaño L, Busturia MA, Martul P; GEDPIT group. Coya R, et al. Among authors: castano l. J Pediatr Endocrinol Metab. 2007 Jan;20(1):27-36. doi: 10.1515/jpem.2007.20.1.27. J Pediatr Endocrinol Metab. 2007. PMID: 17315526
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
Lecumberri B, Fernández-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Bustos JM, Castaño L, de Santiago M, Hiort O, Pérez de Nanclares G, Bastepe M. Lecumberri B, et al. Among authors: castano l. J Med Genet. 2010 Apr;47(4):276-80. doi: 10.1136/jmg.2009.071001. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858129 Free PMC article.
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: castano 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.
317 results