Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Beckwith–wiedemann syndrome

R Weksberg, C Shuman, JB Beckwith - European journal of human …, 2010 - nature.com
Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting,
growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an …

Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

SM Maas, F Vansenne, DJM Kadouch… - American journal of …, 2016 - Wiley Online Library
Patients with Beckwith–Wiedemann syndrome (BWS) have an increased risk to develop
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …

Beckwith–Wiedemann syndrome

S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …

[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

F Brioude, JM Kalish, A Mussa, AC Foster… - Nature Reviews …, 2018 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Molecular findings in Beckwith–Wiedemann syndrome

S Choufani, C Shuman… - American Journal of …, 2013 - Wiley Online Library
Abstract Our understanding of Beckwith–Wiedemann syndrome (BWS) has recently been
enhanced by advances in its molecular characterization. These advances have further …

[PDF][PDF] Liver tumors: pediatric population

MJ Finegold, RA Egler, JA Goss… - Liver …, 2008 - Wiley Online Library
Liver tumors in childhood are rare and are typically not detected clinically until they reach a
large size and often spread within the organ or metastasize. This can make surgical …

A comprehensive review of pediatric tumors and associated cancer predisposition syndromes

S Scollon, AK Anglin, M Thomas, JT Turner… - Journal of genetic …, 2017 - Springer
An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor
diagnoses continues to develop as more information is learned through the application of …

Overgrowth syndromes

AC Edmondson, JM Kalish - Journal of pediatric genetics, 2015 - thieme-connect.com
Numerous multiple malformation syndromes associated with pathologic overgrowth have
been described and, for many, their molecular bases elucidated. This review describes the …

Association of adrenocortical carcinoma with familial cancer susceptibility syndromes

T Else - Molecular and cellular endocrinology, 2012 - Elsevier
Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost
exclusively stems from experiences with familial cancer susceptibility syndromes, which are …