Beckwithwiedemann syndrome

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

BeckwithWiedemann syndrome

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

Beckwithwiedemann syndrome

R Weksberg, C Shuman… - American Journal of …, 2005 - Wiley Online Library
… The genes and imprinted domains of chromosome 11p15 relevant to the BeckwithWiedemann
are shown in Figure 2. This region spans approximately 1 megabase and includes two …

[HTML][HTML] Beckwith-wiedemann syndrome

C Shuman, JB Beckwith, R Weksberg - 2016 - europepmc.org
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal
hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal …

[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 defects, …

Beckwith-Wiedemann syndrome.

M Elliott, ER Maher - Journal of medical genetics, 1994 - ncbi.nlm.nih.gov
In 1963 Beckwith'presented the necropsy findings of three unrelated children with exompha-los,
macroglossia, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly, and …

Molecular findings in BeckwithWiedemann syndrome

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

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

ER Maher, LA Brueton, SC Bowdin, A Luharia… - Journal of medical …, 2003 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations
or epimutations affecting imprinted genes on chromosome 11p15.5. The classical clinical …

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

MM Cohen - Pediatric and Developmental Pathology, 2005 - Springer
Beckwith-Wiedemann syndrome is the most well-known and most common of the overgrowth
syndromes… In this article, topics on Beckwith-Wiedemann syndrome are organized as a …

[HTML][HTML] Beckwith-Wiedemann syndrome and IVF: a case-control study

J Halliday, K Oke, S Breheny, E Algar… - The American Journal of …, 2004 - cell.com
… Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome
… Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic …