Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused bySTX16deletion

TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib)

(2015) Angelo Molinaro et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Loss of Methylation atGNASExon A/B Is Associated With Increased Intrauterine Growth

(2015) Anne-Claire Bréhin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations

(2014) Francesca M. Elli et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

GNAS-Related Loss-of-Function Disorders and the Role of Imprinting

(2013) Agnès Linglart et al.   Hormone Research in Paediatrics

De NovoSTX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

(2012) Serap Turan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q

(2012) A. Dixit et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b

(2011) Kaori Kinoshita et al.   ENDOCRINE JOURNAL

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

(2011) Celia Zazo et al.   JOURNAL OF BONE AND MINERAL RESEARCH

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

(2010) Eduardo Fernández-Rebollo et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

(2010) Giovanna Mantovani et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Molecular Diagnosis and Clinical Characterization of Pseudohypoparathyroidism Type-Ib in a Patient With Mild Albright’s Hereditary Osteodystrophy-Like Features, Epileptic Seizures, and Defective Renal Handling of Uric Acid

(2009) Ugur Unluturk et al.   AMERICAN JOURNAL OF THE MEDICAL SCIENCES

A Maternal Epimutation ofGNASLeads to Albright Osteodystrophy and Parathyroid Hormone Resistance

(2008) Virginie Mariot et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM