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Pseudohypoparatyreoidism > Publikationer

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

http://www.ncbi.nlm.nih.gov/pubmed/26819647
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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
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Pseudopseudohipoparatiroidismo vs heteroplasia ósea progresiva en ausencia de historia familiar

http://www.ncbi.nlm.nih.gov/pubmed/25865609
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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
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Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

http://www.ncbi.nlm.nih.gov/pubmed/23533243
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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
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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
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