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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.
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
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
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.
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.
European lipodystrophy registry: background and structure.
von Schnurbein J, Adams C, Akinci B, Ceccarini G, D'Apice MR, Gambineri A, Hennekam RCM, Jeru I, Lattanzi G, Miehle K, Nagel G, Novelli G, Santini F, Santos Silva E, Savage DB, Sbraccia P, Schaaf J, Sorkina E, Tanteles G, Vantyghem MC, Vatier C, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M. von Schnurbein J, et al. Orphanet J Rare Dis. 2020 Jan 15;15(1):17. doi: 10.1186/s13023-020-1295-y. Orphanet J Rare Dis. 2020. PMID: 31941540 Free PMC article.
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D. Fernández-Pombo A, et al. Presse Med. 2021 Nov;50(3):104071. doi: 10.1016/j.lpm.2021.104071. Epub 2021 Oct 2. Presse Med. 2021. PMID: 34610417 Review.
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