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Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J. Palos F, et al. Among authors: loidi l. J Clin Endocrinol Metab. 2008 Jan;93(1):267-77. doi: 10.1210/jc.2007-0539. Epub 2007 Oct 16. J Clin Endocrinol Metab. 2008. PMID: 17940114 Free PMC article.
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation.
Fernández-Pombo A, Cameselle-Teijeiro JM, Puñal-Rodríguez JA, Loidi L, Peinó-García R, Cabanas-Rodríguez P, Garrido-Pumar M, Baleato-González S, Flores-Ríos E, Araújo-Vilar D. Fernández-Pombo A, et al. Among authors: loidi l. Case Rep Endocrinol. 2019 Oct 27;2019:2502174. doi: 10.1155/2019/2502174. eCollection 2019. Case Rep Endocrinol. 2019. PMID: 31781416 Free PMC article.
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Parajes S, et al. Among authors: loidi l. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089618 Free PMC article.
58 results