Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …

Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …

Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …

METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the
general demographic data and corresponding regional ART registry. RESULTS: Between …

BACKGROUND Genomic imprinting is an epigenetic gene regulatory mechanism; disruption
of this process during early embryonic development can have major consequences on both …

Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Beckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and
cancer predisposition disorder. Due to both varying molecular defects involving …

STUDY QUESTION Do assisted reproductive technologies (ART) and in vitro embryo culture
influence the epigenetic control of imprinted genes (IGs) and transposable elements (TEs) in …

Imprinting diseases (IDs) are rare congenital disorders caused by aberrant dosages of
imprinted genes. Rare IDs are comprised by a group of several distinct disorders that share …