Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An atypical case of hypomethylation at multiple imprinted loci

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

Methylation profiling in individuals with Russell-Silver syndrome

(2010) Maria S. Peñaherrera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders

(2010) DK Bourque et al.   CLINICAL GENETICS

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

(2009) Shin-Ichi Horike et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Beckwith–Wiedemann syndrome

(2009) Rosanna Weksberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

(2009) Bruce E. Hayward et al.   HUMAN MUTATION

Human Placental-Specific Epipolymorphism and its Association with Adverse Pregnancy Outcomes

(2009) Ryan K. C. Yuen et al.   PLoS One

Genetic considerations in the prenatal diagnosis of overgrowth syndromes

(2009) Neeta Vora et al.   PRENATAL DIAGNOSIS

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

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

(2008) Susanne E Boonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

(2008) D. Lim et al.   HUMAN REPRODUCTION

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