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Page 1
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.
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.
Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D. Guillín-Amarelle C, et al. Endocrine. 2016 Nov;54(2):411-421. doi: 10.1007/s12020-016-1002-x. Epub 2016 Jul 30. Endocrine. 2016. PMID: 27473102
Bone mineral density in familial partial lipodystrophy.
Fernández-Pombo A, Ossandon-Otero JA, Guillín-Amarelle C, Sánchez-Iglesias S, Castro AI, González-Méndez B, Rodríguez-García S, Rodriguez-Cañete L, Casanueva FF, Araújo-Vilar D. Fernández-Pombo A, et al. Clin Endocrinol (Oxf). 2018 Jan;88(1):44-50. doi: 10.1111/cen.13504. Epub 2017 Nov 20. Clin Endocrinol (Oxf). 2018. PMID: 29078011
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.
Araújo-Vilar D, Domingo-Jiménez R, Ruibal Á, Aguiar P, Ibáñez-Micó S, Garrido-Pumar M, Martínez-Olmos MÁ, López-Soler C, Guillín-Amarelle C, González-Rodríguez M, Rodríguez-Núñez A, Álvarez-Escudero J, Liñares-Paz M, González-Méndez B, Rodríguez-García S, Sánchez-Iglesias S. Araújo-Vilar D, et al. Eur J Hum Genet. 2018 Mar;26(3):396-406. doi: 10.1038/s41431-017-0052-8. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367704 Free PMC article.
55 results