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89 results

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Page 1
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. 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.
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT. Araújo-Vilar D, et al. Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8. doi: 10.1111/j.1365-2265.2007.03146.x. Epub 2008 Jul 1. Clin Endocrinol (Oxf). 2008. PMID: 18031308
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.
Araújo-Vilar D, Lattanzi G, González-Méndez B, Costa-Freitas AT, Prieto D, Columbaro M, Mattioli E, Victoria B, Martínez-Sánchez N, Ramazanova A, Fraga M, Beiras A, Forteza J, Domínguez-Gerpe L, Calvo C, Lado-Abeal J. Araújo-Vilar D, et al. J Med Genet. 2009 Jan;46(1):40-8. doi: 10.1136/jmg.2008.059485. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805829
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. 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.
[Clinical and molecular study of five families with resistance to thyroid hormones].
Lado Abeal J, Albero Gamboa R, Araujo Vilar D, Barca Mallo O, Bernabeú Moron I, Calvo MT, Castro Piedras I, Martin Calamata J, Palos Paz F, Peinó R, Peteiro D, Victoria B. Lado Abeal J, et al. Med Clin (Barc). 2011 Nov 12;137(12):551-4. doi: 10.1016/j.medcli.2010.11.037. Epub 2011 Jun 23. Med Clin (Barc). 2011. PMID: 21703645 Spanish.
89 results