Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study of a large maternal deletion encompassing the H19 gene and complete ICR1 is the first to demonstrate transcriptional consequences on IGF2 in addition to methylation effects resulting in severe overgrowth and occurrence of multiple tumors in a BWS patient.
|
27650505 |
2017 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Molecular testing of 147 and 450 clinically diagnosed SRS and BWS cases provided diagnosis in 34 SRS and 185 BWS patients, with 9 SRS and 21 BWS cases remaining undiagnosed and herein referred to as "borderline."
|
26933465 |
2016 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dysregulation of 11p15 genomic imprinting results in two human fetal growth disorders (Silver-Russell syndrome (SRS, MIM 180860) and Beckwith-Wiedemann syndrome (BWS, MIM 130650)) with opposite growth phenotypes.
|
23240093 |
2013 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
We demonstrate that SNP arrays are of real diagnostic interest in Beckwith-Wiedemann syndrome: 1) they help to distinguish patUPDs from trisomies more precisely than karyotyping and FISH, 2) they help determine the size and mosaicism rate of patUPDs, 3) they provide complementary information in inconclusive cases, helping to distinguish low-rate patUPD mosaicism from other BWS-related molecular defects.
|
23892181 |
2013 |
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases).
|
21863054 |
2012 |
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases).
|
20007505 |
2010 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
To review currently available literature on the association between imprinting disorders (Beckwith-Wiedemann syndrome [BWS], Angelman syndrome [AS] and retinoblastoma) and assisted reproductive technology (ART) in humans.
|
19201275 |
2009 |
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
LHGDN |
Constitutional H19 hypermethylation in a patient with isolated cardiac tumor.
|
18627058 |
2008 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy.
|
16532391 |
2006 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
To address this question we compared the organization of the Beckwith Wiedemann syndrome (BWS) gene cluster in mammals, chicken, Fugu (pufferfish), and zebrafish.
|
15590939 |
2005 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we performed a review and meta-analysis of reported associations between the imprinting status of the LIT1 and H19 genes and the risk for tumor development in BWS.
|
15887271 |
2005 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.
|
12439823 |
2003 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
|
11813134 |
2002 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this study of 125 BWS cases, we confirm the association of tumors with constitutional defects in the 11p15 telomeric domain; six of 21 BWS cases with uniparental disomy (UPD) of 11p15 developed tumors and one of three of the rare BWS subtype with hypermethylation of the H19 gene developed tumors.
|
11751681 |
2001 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The allelic status of the 11p15 region and the methylation status of the KCNQ1OT and H19 genes were investigated in leukocyte DNA from 97 patients referred for BWS and classified into two groups according to clinical data: complete BWS (CBWS) (n=61) and incomplete BWS (IBWS) (n=36).
|
11436121 |
2001 |
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Recently, we showed that a subgroup of BWS patients have loss of methylation (LOM) at a differentially methylated region (KvDMR1) within the KCNQ1 gene centromeric to the IGF2 and H19 genes.
|
11106355 |
2000 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
A frequent alteration in BWS involves changes in the imprinting status of the coordinately regulated IGF2 and H19 genes on 11p15.
|
10857747 |
2000 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Previously we reported on such a comparison in the central part of the mouse imprinting cluster on distal chromosome 7 with the homologous Beckwith-Wiedemann syndrome (BWS) gene cluster on human chromosome 11p15.5.
|
11063728 |
2000 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BWS is genetically heterogeneous and epigenetic changes in the IGF2/H19 genes resulting in overexpression of IGF2 have been implicated in many cases.
|
10424811 |
1999 |
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that sporadic BWS is not associated with a general alteration of methylation imprinting of the IGF2 and H19 genes.
|
7987305 |
1994 |
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|