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Inflammatory myopathy in the context of an unusual overlapping laminopathy.
Guillín-Amarelle C, Sánchez-Iglesias S, Mera A, Pintos E, Castro-Pais A, Rodríguez-Cañete L, Pardo J, Casanueva FF, Araújo-Vilar D. Guillín-Amarelle C, et al. Arch Endocrinol Metab. 2018 Jun;62(3):376-382. doi: 10.20945/2359-3997000000048. Epub 2018 May 17. Arch Endocrinol Metab. 2018. PMID: 29791652 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
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D. Guillén-Navarro E, et al. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564749
[Uncommon lipodystrophic syndromes].
Guillín-Amarelle C, Sánchez-Iglesias S, Araújo-Vilar D. Guillín-Amarelle C, et al. Med Clin (Barc). 2015 Jan 20;144(2):80-7. doi: 10.1016/j.medcli.2014.02.024. Epub 2014 Apr 29. Med Clin (Barc). 2015. PMID: 24787681 Review. Spanish. No abstract available.
[Acantosis nigricans in severe insulin resistance syndromes].
Araújo-Vilar D, Barreiro J, Sánchez-Iglesias S, Guillín-Amarelle C. Araújo-Vilar D, et al. An Pediatr (Barc). 2017 Mar;86(3):166-168. doi: 10.1016/j.anpedi.2016.01.003. Epub 2016 Feb 15. An Pediatr (Barc). 2017. PMID: 26899667 Free article. Spanish. No abstract available.
Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D. Sánchez-Iglesias S, et al. PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016. PLoS One. 2016. PMID: 27391332 Free PMC article.
89 results