[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 …
prenatal growth and predisposition to embryonal cancers such as Wilms tumor. BWS is …
[HTML][HTML] Mitotic recombination and uniparental disomy in Beckwith–Wiedemann syndrome
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
(IC1) at chromosome 11p15. 5. This is a methylation-sensitive chromatin insulator that works …