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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022.
Mosbah H, Akinci B, Araújo-Vilar D, Carrion Tudela J, Ceccarini G, Collas P, Farooqi IS, Fernández-Pombo A, Jéru I, Karpe F, Krause K, Maffei M, Miehle K, Oral E, Perez de Tudela N, Prieur X, Rochford J, Sanders R, Santini F, Savage DB, von Schnurbein J, Semple R, Stears A, Sorkina E, Vantyghem MC, Vatier C, Vidal-Puig A, Vigouroux C, Wabitsch M. Mosbah H, et al. Among authors: santini f. Ann Endocrinol (Paris). 2022 Dec;83(6):461-468. doi: 10.1016/j.ando.2022.07.674. Epub 2022 Oct 4. Ann Endocrinol (Paris). 2022. PMID: 36206842
Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.
Pelosini C, Martinelli S, Ceccarini G, Magno S, Barone I, Basolo A, Fierabracci P, Vitti P, Maffei M, Santini F. Pelosini C, et al. Among authors: santini f. Metabolism. 2014 Nov;63(11):1385-9. doi: 10.1016/j.metabol.2014.07.010. Epub 2014 Jul 25. Metabolism. 2014. PMID: 25131834
Diagnosis and treatment of lipodystrophy: a step-by-step approach.
Araújo-Vilar D, Santini F. Araújo-Vilar D, et al. Among authors: santini f. J Endocrinol Invest. 2019 Jan;42(1):61-73. doi: 10.1007/s40618-018-0887-z. Epub 2018 Apr 27. J Endocrinol Invest. 2019. PMID: 29704234 Free PMC article. Review.
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. Among authors: santini f. 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.
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G, Magno S, Pelosini C, Ferrari F, Sessa MR, Scabia G, Maffei M, Jéru I, Lascols O, Vigouroux C, Santini F. Ceccarini G, et al. Among authors: santini f. Front Endocrinol (Lausanne). 2020 Feb 14;11:39. doi: 10.3389/fendo.2020.00039. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32117065 Free PMC article.
Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer-Simons syndrome).
Corvillo F, González-Sánchez L, López-Lera A, Arjona E, Ceccarini G, Santini F, Araújo-Vilar D, Brown RJ, Villarroya J, Villarroya F, Rodríguez de Córdoba S, Caballero T, Nozal P, López-Trascasa M. Corvillo F, et al. Among authors: santini f. Int J Mol Sci. 2021 Jun 21;22(12):6608. doi: 10.3390/ijms22126608. Int J Mol Sci. 2021. PMID: 34205507 Free PMC article.
Autoimmunity in lipodystrophy syndromes.
Ceccarini G, Magno S, Gilio D, Pelosini C, Santini F. Ceccarini G, et al. Among authors: santini f. Presse Med. 2021 Nov;50(3):104073. doi: 10.1016/j.lpm.2021.104073. Epub 2021 Sep 20. Presse Med. 2021. PMID: 34547374 Free article. Review.
701 results