Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15. 5 is associated with growth retardation but does not affect imprinting
T Eggermann, F Kraft, E Lausberg… - Journal of Medical …, 2021 - jmg.bmj.com
Background The chromosomal region 11p15. 5 harbours two imprinting centres (H19/IGF2:
IG-DMR/IC1, KCNQ1OT1: TSS-DMR/IC2). Molecular alterations of the IC2 are associated …
IG-DMR/IC1, KCNQ1OT1: TSS-DMR/IC2). Molecular alterations of the IC2 are associated …
Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome
A Nyström, F Hedborg, R Ohlsson - European journal of pediatrics, 1994 - Springer
Abstract The Beckwith-Wiedemann syndrome (BWS) is characterised by congenital
malformations and organomegaly associated with an increased risk for development of …
malformations and organomegaly associated with an increased risk for development of …
Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved …
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a loss-of-imprinting pediatric
overgrowth syndrome. The primary features of BWS include macrosomia, macroglossia, and …
overgrowth syndrome. The primary features of BWS include macrosomia, macroglossia, and …
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 …
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …
Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management
Abstract Purpose Beckwith–Wiedemann syndrome (BWS) is a human genomic imprinting
disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects …
disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects …
Molecular biology of Beckwith‐Wiedemann syndrome
R Weksberg, JA Squire - … Oncology: The Official Journal of SIOP …, 1996 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is an overgrowth syndrome associated with a
predisposition to embryonal tumors, most commonly Wilms'(WT). Overlapping clinical …
predisposition to embryonal tumors, most commonly Wilms'(WT). Overlapping clinical …
Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome
Objective The objective of this study was to describe molecular findings and phenotypic
features among individuals referred for prenatal Beckwith‐Wiedemann syndrome (BWS) …
features among individuals referred for prenatal Beckwith‐Wiedemann syndrome (BWS) …
The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15. 5
M Du, W Zhou, LG Beatty, R Weksberg, PD Sadowski - Genomics, 2004 - Elsevier
The human 11p15. 5 region contains several maternally and paternally imprinted genes.
Dysregulation of imprinting of some of these genes occurs in the Beckwith–Wiedemann …
Dysregulation of imprinting of some of these genes occurs in the Beckwith–Wiedemann …
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 …
Imprinting Mutation in the Beckwith-Wiedemann Syndrome Leads to Biallelic IGF2 expression through an H19-Independent Pathway
KW Brown, AJ Villar, W Bickmore… - Human molecular …, 1996 - academic.oup.com
Abstract The Beckwith-Wiedemann syndrome (BWS) is genetically linked to chromosome
11p15. 5, and a variety of observations suggest that deregulation of imprinted genes in this …
11p15. 5, and a variety of observations suggest that deregulation of imprinted genes in this …