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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: maffei m. 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
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: maffei m. 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.
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: maffei m. Metabolism. 2014 Nov;63(11):1385-9. doi: 10.1016/j.metabol.2014.07.010. Epub 2014 Jul 25. Metabolism. 2014. PMID: 25131834
Melanocortin-4 receptor mutations in obesity.
Santini F, Maffei M, Pelosini C, Salvetti G, Scartabelli G, Pinchera A. Santini F, et al. Among authors: maffei m. Adv Clin Chem. 2009;48:95-109. Adv Clin Chem. 2009. PMID: 19803416 Review.
Serum IGF-binding protein 2 (IGFBP-2) concentrations change early after gastric bypass bariatric surgery revealing a possible marker of leptin sensitivity in obese subjects.
Ceccarini G, Pelosini C, Ferrari F, Magno S, Vitti J, Salvetti G, Moretto C, Marioni A, Buccianti P, Piaggi P, Maffei M, Santini F. Ceccarini G, et al. Among authors: maffei m. Endocrine. 2019 Jul;65(1):86-93. doi: 10.1007/s12020-019-01915-y. Epub 2019 Apr 3. Endocrine. 2019. PMID: 30945111
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.
Magno S, Ceccarini G, Pelosini C, Ferrari F, Prodam F, Gilio D, Maffei M, Sessa MR, Barison A, Ciccarone A, Emdin M, Aimaretti G, Santini F. Magno S, et al. Among authors: maffei m. J Endocr Soc. 2020 Aug 1;4(10):bvaa108. doi: 10.1210/jendso/bvaa108. eCollection 2020 Oct 1. J Endocr Soc. 2020. PMID: 32913962 Free PMC article.
Circulating Levels of MiRNAs From 320 Family in Subjects With Lipodystrophy: Disclosing Novel Signatures of the Disease.
Dattilo A, Ceccarini G, Scabia G, Magno S, Quintino L, Pelosini C, Salvetti G, Cusano R, Massidda M, Montanelli L, Gilio D, Gatti G, Giacomina A, Costa M, Santini F, Maffei M. Dattilo A, et al. Among authors: maffei m. Front Endocrinol (Lausanne). 2022 Jun 6;13:866679. doi: 10.3389/fendo.2022.866679. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35733784 Free PMC article.
Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.
Santini F, Maffei M, Ceccarini G, Pelosini C, Scartabelli G, Rosellini V, Chiellini C, Marsili A, Lisi S, Tonacchera M, Agretti P, Chiovato L, Mammoli C, Vitti P, Pinchera A. Santini F, et al. Among authors: maffei m. J Clin Endocrinol Metab. 2004 Feb;89(2):904-8. doi: 10.1210/jc.2003-031175. J Clin Endocrinol Metab. 2004. PMID: 14764812
382 results