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The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T. Brown RJ, et al. J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511. doi: 10.1210/jc.2016-2466. Epub 2016 Oct 6. J Clin Endocrinol Metab. 2016. PMID: 27710244 Free PMC article. Review.
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
Clinical Utility Gene Card for: Familial partial lipodystrophy.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O. Jéru I, et al. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.102. Epub 2016 Aug 3. Eur J Hum Genet. 2017. PMID: 27485410 Free PMC article. No abstract available.
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
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.
85 results