Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

(2015) Leda Paganini et al.   Epigenetics

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

(2015) Salah Azzi et al.   JOURNAL OF MEDICAL GENETICS

Paternally Inherited IGF2 Mutation and Growth Restriction

(2015) Matthias Begemann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome

(2015) Karl Oliver Kagan et al.   PRENATAL DIAGNOSIS

Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications

(2015) Ada I.C. Wong et al.   TRENDS IN MOLECULAR MEDICINE

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

(2015) Thomas Eggermann et al.   Clinical Epigenetics

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

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

(2014) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

(2014) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood

(2014) Mariëlle Alders et al.   European Journal of Medical Genetics

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

(2014) Walid Abi Habib et al.   HUMAN MOLECULAR GENETICS

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

(2014) Salah Azzi et al.   HUMAN MUTATION

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

(2014) Thomas Eggermann et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing

(2014) Yuqian Xiang et al.   MOLECULAR HUMAN REPRODUCTION

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection?

(2013) Jan P.W. Vermeiden et al.   FERTILITY AND STERILITY

The proportion of uniparental disomy is increased in Prader–Willi syndrome due to an advanced maternal childbearing age in Korea

(2013) Sung Yoon Cho et al.   JOURNAL OF HUMAN GENETICS

CDKN1Cmutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

(2013) F Brioude et al.   JOURNAL OF MEDICAL GENETICS

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

(2012) Jasmin Beygo et al.   HUMAN MOLECULAR GENETICS

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

(2012) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

(2012) Sabrina Spengler et al.   JOURNAL OF PEDIATRICS

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

(2011) Keiko Matsubara et al.   JOURNAL OF HUMAN GENETICS

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

(2011) K. Gronskov et al.   JOURNAL OF MEDICAL GENETICS

An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C

(2011) Elizabeth Algar et al.   PLoS One

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome

(2010) Swati Naik et al.   European Journal of Medical Genetics

Epigenotype-phenotype correlations in Silver-Russell syndrome

(2010) E. L. Wakeling et al.   JOURNAL OF MEDICAL GENETICS

H19 acts as a trans regulator of the imprinted gene network controlling growth in mice

(2009) A. Gabory et al.   DEVELOPMENT

Nonallelic transvection of multiple imprinted loci is organized by theH19imprinting control region during germline development

(2009) Kuljeet Singh Sandhu et al.   GENES & DEVELOPMENT

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

(2009) S. Bruce et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Esther Meyer et al.   PLoS 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