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Page 1
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
J Clin Endocrinol Metab. 2013 May;98(5):E996-1006. doi: 10.1210/jc.2012-4164. Epub 2013 Mar 26.
J Clin Endocrinol Metab. 2013.
PMID: 23533243
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
Zazo C, Thiele S, Martín C, Fernandez-Rebollo E, Martinez-Indart L, Werner R, Garin I; Spanish PHP Group; Hiort O, Perez de Nanclares G.
Zazo C, et al.
J Bone Miner Res. 2011 Aug;26(8):1864-70. doi: 10.1002/jbmr.369.
J Bone Miner Res. 2011.
PMID: 21351142
Free article.
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo Seco C, Fernandez-Rebollo E, Martínez F, Lapunzina P, de Nanclares GP; Spanish PHP Group.
Perez-Nanclares G, et al.
J Clin Endocrinol Metab. 2012 Jun;97(6):E1060-7. doi: 10.1210/jc.2012-1081. Epub 2012 Apr 4.
J Clin Endocrinol Metab. 2012.
PMID: 22492776
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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.
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
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