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

An atypical case of hypomethylation at multiple imprinted loci

(2011) Emma L Baple et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

(2011) Eduardo Fernández-Rebollo et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Distinct physiological and behavioural functions for parental alleles of imprinted Grb10

(2011) Alastair S. Garfield et al.   NATURE

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

(2010) Rebecca L. Poole et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

(2010) Claire Louise Susan Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Hunting for the 5th base: Techniques for analyzing DNA methylation

(2009) Ole Ammerpohl et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

(2008) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS