Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)

J Bliek, C Gicquel, S Maas, V Gaston, Y Le Bouc… - The Journal of …, 2004 - Elsevier
OBJECTIVES: Patients with Beckwith-Wiedemann syndrome (BWS) have a risk of 7.5% to
10% of developing childhood tumors, 60% of which are Wilms' tumors. Aberrant methylation …

Vascular stains: proposal for a clinical classification to improve diagnosis and management

E Rozas‐Muñoz, IJ Frieden, E Roé, L Puig… - Pediatric …, 2016 - Wiley Online Library
Vascular stains are a common reason for consultation in pediatric dermatology clinics.
Although vascular stains include all vascular malformations, the term is most often used to …

Genetics of Beckwith‐Wiedemann syndrome‐associated tumors: common genetic pathways

M Steenman, A Westerveld… - Genes, Chromosomes …, 2000 - Wiley Online Library
A specific subset of solid childhood tumors—Wilms' tumor, adrenocortical carcinoma,
rhabdomyosarcoma, and hepatoblastoma—is characterized by its association with Beckwith …

Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome

MR DeBaun, MJ Siegel, PL Choyke - The Journal of pediatrics, 1998 - Elsevier
Objective: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth syndrome associated
with macrosomia, omphalocele, macroglossia, visceromegaly and Wilms tumor (WT). We …

Beckwith–Wiedemann syndrome: multiple molecular mechanisms

T Enklaar, BU Zabel, D Prawitt - Expert reviews in molecular …, 2006 - cambridge.org
Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth condition with an
increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal …

A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

SL Kerns, J Guevara-Aguirre, S Andrew… - The Journal of …, 2014 - academic.oup.com
Context: CDKN1C, a cyclin-dependent kinase inhibitor and negative regulator of cellular
proliferation, is paternally imprinted and has been shown to regulate β-cell proliferation …

Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome

A Gazzin, D Carli, F Sirchia, C Molinatto… - American Journal of …, 2019 - Wiley Online Library
Abstract Background Beckwith‐Wiedemann syndrome (BWS) phenotype usually mitigates
with age and data on adulthood are limited. Our study aims at reporting phenotype evolution …

[HTML][HTML] EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith …

K Eggermann, J Bliek, F Brioude, E Algar… - European Journal of …, 2016 - nature.com
Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and
Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular …

Syndromes and malformations of the urinary tract

C Limwongse, SK Clarren, SB Cassidy - Pediatric nephrology, 2004 - books.google.com
Birth defects involving the kidney and urinary system are often encountered and frequently
occur in association with other structural abnormalities. A congenital urinary tract anomaly …

Imaging of cancer predisposition syndromes in children

J Monsalve, J Kapur, D Malkin, PS Babyn - Radiographics, 2011 - pubs.rsna.org
The term cancer predisposition syndrome (CPS) encompasses a multitude of familial
cancers in which a clear mode of inheritance can be established, although a specific gene …