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Pseudoipoparatiroidismo > Publicazioni

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

http://www.ncbi.nlm.nih.gov/pubmed/26819647
da Guiomar
Ricercatore

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

http://www.ncbi.nlm.nih.gov/pubmed/26583054
da Guiomar
Ricercatore

Pseudopseudohipoparatiroidismo vs heteroplasia ósea progresiva en ausencia de historia familiar

http://www.ncbi.nlm.nih.gov/pubmed/25865609
da Guiomar
Ricercatore

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
da Guiomar
Ricercatore

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

http://www.ncbi.nlm.nih.gov/pubmed/23533243
da Guiomar
Ricercatore

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
da Guiomar
Ricercatore

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
da Guiomar
Ricercatore