Associated Papers
A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report.
Wan J et al.
Open Life Sciences, 2024
A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.
Wang Q et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
Snanoudj S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.
Del Monte P et al.
Case Reports in Endocrinology, 2019
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
de Sanctis L et al.
Italian Journal of Pediatrics, 2016
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.
Mantovani G et al.
Nature Reviews. Endocrinology, 2016
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC et al.
Human Mutation, 2015
25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.
Elli FM et al.
Bone, 2013
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
Fernández-Rebollo E et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
Elli FM et al.
Human Mutation, 2013
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