Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome

SW Baker, E Ryan, JM Kalish, A Ganguly - Prenatal Diagnosis, 2021 - Wiley Online Library
Objective The objective of this study was to describe molecular findings and phenotypic
features among individuals referred for prenatal Beckwith‐Wiedemann syndrome (BWS) …

Prevalence of Beckwith–Wiedemann syndrome in north west of Italy

A Mussa, S Russo, A De Crescenzo… - American journal of …, 2013 - Wiley Online Library
ABSTRACT Although Beckwith–Wiedemann syndrome (BWS, OMIM# 130650) is the most
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

M Calvello, S Tabano, P Colapietro, S Maitz, A Pansa… - Epigenetics, 2013 - Taylor & Francis
Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and
predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic …

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome

N Diaz-Meyer, CD Day, K Khatod, ER Maher… - Journal of medical …, 2003 - jmg.bmj.com
Context: Beckwith–Wiedemann syndrome (BWS) arises by several genetic and epigenetic
mechanisms affecting the balance of imprinted gene expression in chromosome 11p15. 5 …

Fetal growth patterns in Beckwith–Wiedemann syndrome

A Mussa, S Russo, A De Crescenzo, A Freschi… - Clinical …, 2016 - Wiley Online Library
We provide data on fetal growth pattern on the molecular subtypes of Beckwith–Wiedemann
syndrome (BWS): IC1 gain of methylation (IC1‐GoM), IC2 loss of methylation (IC2‐LoM) …

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome

HY Lin, CK Chuang, RY Tu, YY Fang, YN Su… - Molecular Genetics and …, 2016 - Elsevier
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth
disorder predisposing to tumorigenesis that results from abnormal expression or function of …

[HTML][HTML] Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

IM Krzyzewska, M Alders, SM Maas, J Bliek… - Clinical …, 2019 - Springer
Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes
at chromosome 11p15. The molecular confirmation of this syndrome is possible in …

Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome

H Yatsuki, K Higashimoto, K Jozaki, K Koide, J Okada… - Genes & Genomics, 2013 - Springer
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is
characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor …

[HTML][HTML] In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene

C Gicquel, V Gaston, J Mandelbaum, JP Siffroi… - The American Journal of …, 2003 - cell.com
“Parental imprinting” refers to an epigenetic marking of genes that results in monoallelic
expression. This phenomenon plays a critical role in embryogenesis and development. The …

[HTML][HTML] Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

K Sasaki, H Soejima, K Higashimoto… - European journal of …, 2007 - nature.com
Beckwith–Wiedemann syndrome (BWS) is an imprinting-related human disease. The
frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1 …