Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

DNA methylation analysis of Homeobox genes implicatesHOXB7hypomethylation as risk factor for neural tube defects

(2015) Anne Rochtus et al.   Epigenetics

Genome-wide methylation analysis in Silver–Russell syndrome patients

(2015) A. R. Prickett et al.   HUMAN GENETICS

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

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

Case Report of GNAS Epigenetic Defect Revealed by a Congenital Hypothyroidism

(2015) P. Romanet et al.   PEDIATRICS

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

(2014) Intza Garin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

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

Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion AblatingSTX16Causes Loss of Imprinting at the A/B DMR

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

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

(2014) Louise E Docherty et al.   JOURNAL OF MEDICAL GENETICS

The role of genomic imprinting in biology and disease: an expanding view

(2014) Jo Peters   NATURE REVIEWS GENETICS

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

(2013) Rebecca L. Poole et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic and transcriptional features of the novel human imprinted lncRNAGPR1ASsuggest it is a functional ortholog to mouseZdbf2linc

(2013) Hisato Kobayashi et al.   Epigenetics

Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

(2013) Stéphanie Maupetit-Méhouas et al.   HUMAN MUTATION

Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders

(2013) Thomas Eggermann et al.   JOURNAL OF PEDIATRICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

An update on the clinical and molecular characteristics of pseudohypoparathyroidism

(2013) Michael A. Levine   Current Opinion in Endocrinology Diabetes and Obesity

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

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

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

(2012) Benedetta Izzi et al.   PLoS One

Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility

(2012) Lovisa E. Reinius et al.   PLoS One

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

Pseudohypoparathyroidism: Diagnosis and Treatment

(2011) Giovanna Mantovani   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system

(2010) Benedetta Izzi et al.   CLINICA CHIMICA ACTA

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

Principles and challenges of genome-wide DNA methylation analysis

(2010) Peter W. Laird   NATURE REVIEWS 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

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

GNAS Defects Identified by Stimulatory G Protein α-Subunit Signalling Studies in Platelets

(2008) Kathleen Freson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Maternal Epimutation ofGNASLeads to Albright Osteodystrophy and Parathyroid Hormone Resistance

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