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The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
Elli FM, Linglart A, Garin I, de Sanctis L, Bordogna P, Grybek V, Pereda A, Giachero F, Verrua E, Hanna P, Mantovani G, Perez de Nanclares G. Elli FM, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2016 Oct;101(10):3657-3668. doi: 10.1210/jc.2015-4310. Epub 2016 Jul 18. J Clin Endocrinol Metab. 2016. PMID: 27428667 Free article.
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.
Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, Cisternino M, Maghnie M, Ghizzoni L, de Sanctis L, Lania AG, Beck-Peccoz P, Spada A. Mantovani G, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2010 Nov;95(11):5011-7. doi: 10.1210/jc.2010-1649. Epub 2010 Aug 18. J Clin Endocrinol Metab. 2010. PMID: 20719837 Clinical Trial.
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
Maupetit-Méhouas S, Mariot V, Reynès C, Bertrand G, Feillet F, Carel JC, Simon D, Bihan H, Gajdos V, Devouge E, Shenoy S, Agbo-Kpati P, Ronan A, Naud-Saudreau C, Lienhardt A, Silve C, Linglart A. Maupetit-Méhouas S, et al. Among authors: linglart a. J Med Genet. 2011 Jan;48(1):55-63. doi: 10.1136/jmg.2010.081356. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972248 Free article.
Clinical utility gene card for: pseudohypoparathyroidism.
Mantovani G, Linglart A, Garin I, Silve C, Elli FM, de Nanclares GP. Mantovani G, et al. Among authors: linglart a. 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.
262 results