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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: pereda a. 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.
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. 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: pereda a. 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: pereda a. 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: pereda 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.
[Brachydactyly type C due to a nonsense mutation in the GDF5 gene].
Travieso-Suárez L, Pereda A, Pozo-Román J, Pérez de Nanclares G, Argente J. Travieso-Suárez L, et al. Among authors: pereda a. An Pediatr (Engl Ed). 2018 Feb;88(2):107-109. doi: 10.1016/j.anpedi.2017.03.001. Epub 2017 Apr 5. An Pediatr (Engl Ed). 2018. PMID: 28391997 Free article. Spanish. No abstract available.
Progressive osseous heteroplasia caused by a mosaic GNAS mutation.
Pereda A, Martos-Tello JM, Garin I, Errea-Dorronsoro J, Perez de Nanclares G. Pereda A, et al. Clin Endocrinol (Oxf). 2018 Jun;88(6):993-995. doi: 10.1111/cen.13584. Epub 2018 Mar 25. Clin Endocrinol (Oxf). 2018. PMID: 29464731 No abstract available.
193 results