[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of …
R Weksberg, J Nishikawa, O Caluseriu… - Human molecular …, 2001 - academic.oup.com
Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in
Beckwith–Wiedemann syndrome (BWS), an overgrowth syndrome associated with …
Beckwith–Wiedemann syndrome (BWS), an overgrowth syndrome associated with …
New p57KIP2 mutations in Beckwith-Wiedemann syndrome
I Hatada, A Nabetani, H Morisaki, Z Xin, S Ohishi… - Human genetics, 1997 - Springer
Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities
and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15. 5 …
and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15. 5 …
Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development
S Nirgude, NSS Naveh, SL Kavari, EM Traxler… - British Journal of …, 2024 - nature.com
Background Wilms tumor (WT) exhibits structural and epigenetic changes at chromosome
11p15, which also cause Beckwith-Wiedemann Syndrome (BWS). Children diagnosed with …
11p15, which also cause Beckwith-Wiedemann Syndrome (BWS). Children diagnosed with …
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
AC Smith, T Rubin, C Shuman, L Estabrooks… - … and Genome Research, 2006 - karger.com
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome demonstrating
heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The …
heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The …
Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
There is strong evidence for an association between overgrowth disorders such as Beckwith–
Wiedemann syndrome and the development of neoplasia. An increased cancer risk has also …
Wiedemann syndrome and the development of neoplasia. An increased cancer risk has also …
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
M Calvello, S Tabano, P Colapietro, S Maitz, A Pansa… - Epigenetics, 2013 - Taylor & Francis
Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and
predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic …
predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic …
[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome
KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15. 5 uniparental disomy
R Fukuzawa, J Hata, Y Hayashi, H Ikeda… - Pediatric and …, 2003 - Springer
Beckwith-Wiedemann syndrome (BWS) patients with chromosome 11p15. 5 uniparental
isodisomy (UPD) have an increased risk for developing embryonal tumors. UPD in these …
isodisomy (UPD) have an increased risk for developing embryonal tumors. UPD in these …
Prevalence of Beckwith–Wiedemann syndrome in north west of Italy
A Mussa, S Russo, A De Crescenzo… - American journal of …, 2013 - Wiley Online Library
ABSTRACT Although Beckwith–Wiedemann syndrome (BWS, OMIM# 130650) is the most
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …