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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: de nanclares gp, de sanctis l. 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.
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M. de Nanclares GP, et al. J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. doi: 10.1210/jc.2006-2287. Epub 2007 Apr 3. J Clin Endocrinol Metab. 2007. PMID: 17405843
New mutation type in pseudohypoparathyroidism type Ia.
Fernandez-Rebollo E, Barrio R, Pérez-Nanclares G, Carcavilla A, Garin I, Castaño L, de Nanclares GP. Fernandez-Rebollo E, et al. Among authors: de nanclares gp. Clin Endocrinol (Oxf). 2008 Nov;69(5):705-12. doi: 10.1111/j.1365-2265.2008.03255.x. Epub 2008 Apr 3. Clin Endocrinol (Oxf). 2008. PMID: 18394017
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
Fernández-Rebollo E, Pérez O, Martinez-Bouzas C, Cotarelo-Pérez MC, Garin I, Ruibal JL, Pérez-Nanclares G, Castaño L, de Nanclares GP. Fernández-Rebollo E, et al. Among authors: de nanclares gp. Eur J Endocrinol. 2009 Apr;160(4):711-7. doi: 10.1530/EJE-08-0865. Eur J Endocrinol. 2009. PMID: 19332529
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.
Fernández-Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal-Chico A, Goñi F, Orduña R; Spanish PHP Group; Castaño L, de Nanclares GP. Fernández-Rebollo E, et al. Among authors: de nanclares gp. Eur J Endocrinol. 2010 Dec;163(6):953-62. doi: 10.1530/EJE-10-0435. Epub 2010 Sep 13. Eur J Endocrinol. 2010. PMID: 20837711
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: de nanclares gp. 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.
41 results