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Page 1
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
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group. Vaxillaire M, et al. Among authors: de nanclares gp. Diabetes. 2007 Jun;56(6):1737-41. doi: 10.2337/db06-1540. Epub 2007 Mar 27. Diabetes. 2007. PMID: 17389331
42 results