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Article

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.

The Journal of clinical endocrinology and metabolism - 1 Jan 2002

Linglart Agnès, Carel Jean Claude, Garabédian Michèle, Lé Tran, Mallet Eric, Kottler Marie Laure

Abstract excerpt

We conducted clinical and biological studies including screening for mutations in the gene encoding the alpha subunit of G(s) (GNAS1) in 30 subjects (21 unrelated families) with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP); and decreased erythrocyte G(s) activity (PHP-Ia; n = 19); AHO and decreased erythrocyte G(s) activity (isolated AHO; n = 10); or AHO, hormonal resistance, and...

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PMID: 11788646
DOI: 10.1210/jcem.87.1.8133

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.PMID 11788646Read ↗

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

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Genetics of pseudohypoparathyroidism types Ia and Ic.Semantic proximity Read ↗

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Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.Semantic proximity Read ↗

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Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.Semantic proximity Read ↗

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

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GNAS locus and pseudohypoparathyroidism.Semantic proximity Read ↗

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