… We performed a multivariate exploratory data analysis to assess whether it was possible
to discriminate Beckwith-Wiedemann syndrome (BWS) (epi)genotypes on the basis of the …

… Although consistent (epi)genotype-phenotype correlations have … The importance of (epi)genotyping
to determine tumor … that the IC2 LOM epigenotype profile does not create a …

… Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder, characterized
by … , and to investigate (epi)genetic changes and follow-up findings in classic and atypical …

… The aim of this study was to identify the epigenotype-phenotype correlations of these patients
using quantitative DNA methylation analysis. Methods: One hundred and four subjects with …

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins
discordant for Beckwith–Wiedemann syndrome - Fontana - 2020 - Molecular Genetics & …

Background Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic errors.
This study aimed to analyze the relationship between the epigenetic errors and …

… was negative, demonstrating phenotype/epigenotype discordance within a single patient. …
at least one child is affected with Beckwith-Wiedemann syndrome. Legend: † Clinical score …

… In the rare diseases scenario, Beckwith-Wiedemann syndrome (BWS) is a pediatric … , we
highlight the correlation between assisted reproductive technologies and this rare disease. We …

… Identifying the BWS molecular subtype is valuable for coordinating patient care because
of the (epi)genotype-phenotype correlations, including different risks and types of embryonal …

… phenotypic features that result from each molecular etiology. We propose that if (epi)genotype–phenotype
correlations … understood (epi)genotype–phenotype correlations may not be …