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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
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.
Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P. Moya CM, et al. J Clin Endocrinol Metab. 2006 May;91(5):1832-41. doi: 10.1210/jc.2005-1497. Epub 2006 Feb 28. J Clin Endocrinol Metab. 2006. PMID: 16507635 Free article.
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. 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
Reference values for TSH may be inadequate to define hypothyroidism in persons with morbid obesity: Di@bet.es study.
Valdés S, Maldonado-Araque C, Lago-Sampedro A, Lillo-Muñoz JA, Garcia-Fuentes E, Perez-Valero V, Gutiérrez-Repiso C, Garcia-Escobar E, Goday A, Urrutia I, Peláez L, Calle-Pascual A, Bordiú E, Castaño L, Castell C, Delgado E, Menéndez E, Franch-Nadal J, Gaztambide S, Girbés J, Ortega E, Vendrell J, Chacón MR, Javier Chaves F, Soriguer F, Rojo-Martínez G. Valdés S, et al. Obesity (Silver Spring). 2017 Apr;25(4):788-793. doi: 10.1002/oby.21796. Epub 2017 Mar 9. Obesity (Silver Spring). 2017. PMID: 28276648 Free article.
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-Rigual M, San Pedro JI, Pérez-Nanclares G, Fernández-Rebollo E, Busturia MA, Castaño L, Pérez de Nanclares G; Spanish MODY Group. Garin I, et al. Clin Endocrinol (Oxf). 2008 Jun;68(6):873-8. doi: 10.1111/j.1365-2265.2008.03214.x. Epub 2008 Feb 1. Clin Endocrinol (Oxf). 2008. PMID: 18248649
236 results