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出版物
- Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. - pseudohypoparathyroidism - http://www.ncbi.nlm.nih.gov/pubmed/26819647
- Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. - pseudohypoparathyroidism - http://www.ncbi.nlm.nih.gov/pubmed/26583054
- Pseudopseudohipoparatiroidismo vs heteroplasia ósea progresiva en ausencia de historia familiar - pseudohypoparathyroidism - http://www.ncbi.nlm.nih.gov/pubmed/25865609
- European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. - pseudohypoparathyroidism - http://www.ncbi.nlm.nih.gov/pubmed/25005735
- Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism. - pseudohypoparathyroidism - http://www.ncbi.nlm.nih.gov/pubmed/23533243
- Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? - pseudohypoparathyroidism - http://www.ncbi.nlm.nih.gov/pubmed/21523828
- Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus. - pseudohypoparathyroidism - http://www.ncbi.nlm.nih.gov/pubmed/21351142