[PDF][PDF] Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

MP Lee, M DeBaun, G Randhawa, BA Reichard… - The American Journal of …, 1997 - cell.com
Beckwith-Wiedemann syndrome (BWS) is an autosomal dominant disorder of increased
prenatal growth and predisposition to embryonal cancers such as Wilms tumor. BWS is …

[HTML][HTML] Mitotic recombination and uniparental disomy in Beckwith–Wiedemann syndrome

WN Cooper, R Curley, F Macdonald, ER Maher - Genomics, 2007 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is a model human imprinting disorder resulting from
altered activity of one or more genes in the 11p15. 5 imprinted gene cluster. Approximately …

Distant cis-elements regulate imprinted expression of the mouse p57 Kip2(Cdkn1c)gene: implications for the human disorder, Beckwith–Wiedemann syndrome

RM John, JFX Ainscough, SC Barton… - Human Molecular …, 2001 - academic.oup.com
Complex phenotypes and genotypes characterize the human disease, Beckwith–
Wiedemann syndrome (BWS). Genetic and epigenetic mutations are found in five different …

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

L Tee, DHK Lim, RP Dias, MO Baudement, AA Slater… - Clinical …, 2013 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth
disorder associated with abnormalities in 11p15. 5 imprinted genes. The most common …

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 …

Hypercortisolism due to a pituitary adenoma associated with Beckwith-Wiedemann syndrome

F Brioude, C Nicolas, I Marey, S Gaillard… - Hormone Research in …, 2016 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with an
increased risk of cancer. Most BWS patients show a molecular defect in the 11p15 region …

New insights into the pathogenesis of Beckwith–Wiedemann and Silver–Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects

J Demars, S Rossignol, I Netchine, KS Lee… - Human …, 2011 - Wiley Online Library
The imprinted 11p15 region is organized in two domains, each of them under the control of
its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the …

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith–Wiedemann syndrome and is …

MP Lee, MR DeBaun, K Mitsuya… - Proceedings of the …, 1999 - National Acad Sciences
Genomic imprinting plays a fundamental role in cancer and some hereditary diseases,
including Beckwith–Wiedemann syndrome (BWS), a disorder of prenatal overgrowth and …

Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives

MM Cohen - Pediatric and Developmental Pathology, 2005 - Springer
Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele,
umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann …

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

A Sparago, S Russo, F Cerrato… - Human molecular …, 2007 - academic.oup.com
The imprinted expression of the IGF2 and H19 genes is controlled by the Imprinting Centre 1
(IC1) at chromosome 11p15. 5. This is a methylation-sensitive chromatin insulator that works …