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Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.
Hanna P, Grybek V, Perez de Nanclares G, Tran LC, de Sanctis L, Elli F, Errea J, Francou B, Kamenicky P, Linglart L, Pereda A, Rothenbuhler A, Tessaris D, Thiele S, Usardi A, Shoemaker AH, Kottler ML, Jüppner H, Mantovani G, Linglart A. Hanna P, et al. Among authors: mantovani g. J Bone Miner Res. 2018 Aug;33(8):1480-1488. doi: 10.1002/jbmr.3450. Epub 2018 Jun 7. J Bone Miner Res. 2018. PMID: 29693731 Free PMC article.
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A. Mantovani G, et al. J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. doi: 10.1210/jc.2009-0176. Epub 2010 Jan 8. J Clin Endocrinol Metab. 2010. PMID: 20061437 Free article.
GNAS imprinting and pituitary tumors.
Mantovani G, Lania AG, Spada A. Mantovani G, et al. Mol Cell Endocrinol. 2010 Sep 15;326(1-2):15-8. doi: 10.1016/j.mce.2010.04.009. Epub 2010 Apr 14. Mol Cell Endocrinol. 2010. PMID: 20398730 Review.
The microRNA cluster C19MC is deregulated in parathyroid tumours.
Vaira V, Elli F, Forno I, Guarnieri V, Verdelli C, Ferrero S, Scillitani A, Vicentini L, Cetani F, Mantovani G, Spada A, Bosari S, Corbetta S. Vaira V, et al. Among authors: mantovani g. J Mol Endocrinol. 2012 Jul 26;49(2):115-24. doi: 10.1530/JME-11-0189. Print 2012 Oct. J Mol Endocrinol. 2012. PMID: 22767050
Clinical utility gene card for: pseudohypoparathyroidism.
Mantovani G, Linglart A, Garin I, Silve C, Elli FM, de Nanclares GP. Mantovani G, et al. Eur J Hum Genet. 2013 Jun;21(6). doi: 10.1038/ejhg.2012.211. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968134 Free PMC article. No abstract available.
1,004 results