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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Novelli G, et al. Among authors: lauro r. Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075506 Free PMC article.
Elbow deformities in a patient with mandibuloacral dysplasia type A.
Guglielmi V, D'Adamo M, D'Apice MR, Bellia A, Lauro D, Federici M, Lauro R, Novelli G, Sbraccia P. Guglielmi V, et al. Among authors: lauro r, lauro d. Am J Med Genet A. 2010 Nov;152A(11):2711-3. doi: 10.1002/ajmg.a.33700. Am J Med Genet A. 2010. PMID: 20949529 No abstract available.
Relationship between plasma free fatty acids and uncoupling protein-3 gene expression in skeletal muscle of obese subjects: in vitro evidence of a causal link.
Sbraccia P, D'Adamo M, Leonetti F, Buongiorno A, Silecchia G, Basso MS, Tamburrano G, Lauro D, Federici M, Di Daniele N, Lauro R. Sbraccia P, et al. Among authors: lauro r, lauro d. Clin Endocrinol (Oxf). 2002 Aug;57(2):199-207. doi: 10.1046/j.1365-2265.2002.01593.x. Clin Endocrinol (Oxf). 2002. PMID: 12153598
The -866A/A genotype in the promoter of the human uncoupling protein 2 gene is associated with insulin resistance and increased risk of type 2 diabetes.
D'Adamo M, Perego L, Cardellini M, Marini MA, Frontoni S, Andreozzi F, Sciacqua A, Lauro D, Sbraccia P, Federici M, Paganelli M, Pontiroli AE, Lauro R, Perticone F, Folli F, Sesti G. D'Adamo M, et al. Among authors: lauro r, lauro d. Diabetes. 2004 Jul;53(7):1905-10. doi: 10.2337/diabetes.53.7.1905. Diabetes. 2004. PMID: 15220218
Parathyroid hormone and insulin resistance in distinct phenotypes of severe obesity: a cross-sectional analysis in middle-aged men and premenopausal women.
Bellia A, Marinoni G, D'Adamo M, Guglielmi V, Lombardo M, Donadel G, Gentileschi P, Lauro D, Federici M, Lauro R, Sbraccia P. Bellia A, et al. Among authors: lauro r, lauro d. J Clin Endocrinol Metab. 2012 Dec;97(12):4724-32. doi: 10.1210/jc.2012-2513. Epub 2012 Oct 1. J Clin Endocrinol Metab. 2012. PMID: 23027922
396 results