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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: mantovani g. J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5. J Clin Endocrinol Metab. 2012. PMID: 23043190 Clinical Trial.
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.
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium. Garin I, et al. Among authors: mantovani g. Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005735 Free PMC article.
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P, Pereda A, Clarke JT, Kannengiesser C, Coutant R, Tenebaum-Rakover Y, Admoni O, de Nanclares GP, Mantovani G. Garin I, et al. Among authors: mantovani g. J Clin Endocrinol Metab. 2015 Apr;100(4):E681-7. doi: 10.1210/jc.2014-3098. Epub 2015 Jan 16. J Clin Endocrinol Metab. 2015. PMID: 25594858 Free article.
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A. Thiele S, et al. Among authors: mantovani g. Eur J Endocrinol. 2016 Dec;175(6):P1-P17. doi: 10.1530/EJE-16-0107. Epub 2016 Jul 11. Eur J Endocrinol. 2016. PMID: 27401862 Free article. Review.
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: mantovani g. 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.
999 results