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Article

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.

Journal of medical genetics - 1 Jan 2011

Maupetit-Méhouas Stéphanie, Mariot Virginie, Reynès Christelle, Bertrand Guylène, Feillet Francois, Carel Jean-Claude, Simon Dominique, Bihan Hélène, Gajdos Vincent, Devouge Eve, Shenoy Savitha, Agbo-Kpati Placide, Ronan Anne, Naud-Saudreau Catherine, Lienhardt Anne, Silve Caroline, Linglart Agnès

Abstract excerpt

BACKGROUND: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to epigenetic changes at the imprinted GNAS locus, including loss of methylation at the A/B differentially methylated region (DMR) and sometimes at the XL and AS DMRs and gain of methylation at the NESP DMR. OBJECTIVE: To investigate if...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Protein alpha Subunits, Gs

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Source

Identifiers

PMID: 20972248
DOI: 10.1136/jmg.2010.081356

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20972248-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.PMID 20972248Read ↗

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