[HTML][HTML] No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome
SE Boonen, J Hahnemann, D Mackay… - European journal of …, 2012 - nature.com
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50–60% of
sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region …
sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region …
Beckwith–Wiedemann syndrome
S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …
The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation
S Senniappan, D Ismail, C Shipster… - Journal of Pediatric …, 2015 - degruyter.com
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple
epigenetic and genetic changes affecting imprinted genes on chromosome 11p15. 5 …
epigenetic and genetic changes affecting imprinted genes on chromosome 11p15. 5 …
[HTML][HTML] A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome
J Beygo, I Joksic, TM Strom, HJ Lüdecke… - European Journal of …, 2016 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS; OMIM# 130650) is an overgrowth
syndrome caused by different genetic or epigenetic alterations affecting imprinted regions …
syndrome caused by different genetic or epigenetic alterations affecting imprinted regions …
[PDF][PDF] The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.
F Cerrato, M Vernucci, PV Pedone, L Chiariotti… - Human …, 2002 - researchgate.net
Fig. 1a–e Hypomethylation of the KvDMR1 CpG island in BWS. a–c Analysis of the
methylation status of the KvDMR1 CpG island by digestion with methylation-sensitive …
methylation status of the KvDMR1 CpG island by digestion with methylation-sensitive …
An association between variants in the IGF2 gene and Beckwith–Wiedemann syndrome: interaction between genotype and epigenotype
Beckwith–Wiedemann syndrome (BWS) is a fetal overgrowth disorder involving the
deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene …
deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene …
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 …
mechanisms affecting the balance of imprinted gene expression in chromosome 11p15. 5 …
Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome
N Diaz-Meyer, Y Yang, SN Sait, ER Maher… - Journal of medical …, 2005 - jmg.bmj.com
Background: Mutations in the imprinted gene CDKN1C account for approximately 10% of
Beckwith–Wiedemann syndrome (BWS) cases. Fibroblasts from BWS patients with loss of …
Beckwith–Wiedemann syndrome (BWS) cases. Fibroblasts from BWS patients with loss of …
Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping
LG Best, KA Duffy, AM George… - American Journal of …, 2023 - Wiley Online Library
Abstract Beckwith‐Wiedemann Spectrum (BWSp) is an overgrowth and cancer
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …
[HTML][HTML] Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
C Eßinger, S Karch, U Moog, G Fekete, A Lengyel… - Clinical …, 2020 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder
caused by disturbances of the chromosomal region 11p15. 5. The most frequent molecular …
caused by disturbances of the chromosomal region 11p15. 5. The most frequent molecular …