Skip to content
Bantu kami untuk membantu lebih ramai orang

Pseudohipoparatiroidisme > Penerbitan-Penerbitan

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

http://www.ncbi.nlm.nih.gov/pubmed/26819647
oleh Guiomar
Penyelidik

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

http://www.ncbi.nlm.nih.gov/pubmed/26583054
oleh Guiomar
Penyelidik

Pseudopseudohipoparatiroidismo vs heteroplasia ósea progresiva en ausencia de historia familiar

http://www.ncbi.nlm.nih.gov/pubmed/25865609
oleh Guiomar
Penyelidik

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
oleh Guiomar
Penyelidik

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

http://www.ncbi.nlm.nih.gov/pubmed/23533243
oleh Guiomar
Penyelidik

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
oleh Guiomar
Penyelidik

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
oleh Guiomar
Penyelidik