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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

http://www.ncbi.nlm.nih.gov/pubmed/26819647
〜によって Guiomar
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

http://www.ncbi.nlm.nih.gov/pubmed/26583054
〜によって Guiomar
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Pseudopseudohipoparatiroidismo vs heteroplasia ósea progresiva en ausencia de historia familiar

http://www.ncbi.nlm.nih.gov/pubmed/25865609
〜によって Guiomar
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

http://www.ncbi.nlm.nih.gov/pubmed/25005735
〜によって Guiomar
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Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

http://www.ncbi.nlm.nih.gov/pubmed/23533243
〜によって Guiomar
研究者

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

http://www.ncbi.nlm.nih.gov/pubmed/21523828
〜によって Guiomar
研究者

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.

http://www.ncbi.nlm.nih.gov/pubmed/21351142
〜によって Guiomar
研究者