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

ICR1 Epimutations in 11p15 are Restricted to Patients with Silver-Russell Syndrome Features

(2011) T. Eggermann et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

(2009) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies

(2009) M.V. Gomes et al.   MOLECULAR HUMAN REPRODUCTION

Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation

(2009) T. Eggermann et al.   PEDIATRICS

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

No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver–Russell patients

(2008) Nadine Schöherr et al.   European Journal of Medical Genetics

Identification of the human homolog of the imprinted mouse Air non-coding RNA

(2008) Iveta Y. Yotova et al.   GENOMICS

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

(2008) Karin Buiting et al.   HUMAN MUTATION

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

(2008) D. Lim et al.   HUMAN REPRODUCTION

Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree ofH19Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies

(2008) Sara Bruce et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR

(2008) Kazuki Yamazawa et al.   JOURNAL OF HUMAN GENETICS

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

(2008) D Bartholdi et al.   JOURNAL OF MEDICAL 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