Clinical utility gene card for: Pseudohypoparathyroidism

Screening for Parathyroid Hormone Resistance in Patients with Nonphenotypically Evident Pseudohypoparathyroidism

(2012) Kristina Todorova-Koteva et al.   Endocrine Practice

Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus

(2012) Gustavo Perez-Nanclares et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/BGNASand Autosomal Dominant Pseudohypoparathyroidism Type Ib

(2012) Nicolas Richard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pseudohypoparathyroidism: Diagnosis and Treatment

(2011) Giovanna Mantovani   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

RecurrentPRKAR1AMutation in Acrodysostosis with Hormone Resistance

(2011) Agnès Linglart et al.   NEW ENGLAND JOURNAL OF MEDICINE

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)

(2010) Murat Bastepe et al.   BONE

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

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

Deletion of the NoncodingGNASAntisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects ofGNASMethylationin cis

(2010) Smitha Chillambhi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

(2010) S. Maupetit-Mehouas et al.   JOURNAL OF MEDICAL GENETICS

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

Methylation-Specific Multiplex-Ligation-Dependent Probe Amplification as a Rapid Molecular Diagnostic Tool for Pseudohypoparathyroidism Type 1b

(2009) Zobaida Alsum et al.   Genetic Testing and Molecular Biomarkers

IntragenicGNASDeletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B

(2009) Eduardo Fernandez-Rebollo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs  coding mutations and GNAS imprinting defects

(2009) B. Lecumberri et al.   JOURNAL OF MEDICAL GENETICS

A Maternal Epimutation ofGNASLeads to Albright Osteodystrophy and Parathyroid Hormone Resistance

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