Molecular biology of Beckwith‐Wiedemann syndrome

R Weksberg, JA Squire - … Oncology: The Official Journal of SIOP …, 1996 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is an overgrowth syndrome associated with a
predisposition to embryonal tumors, most commonly Wilms'(WT). Overlapping clinical …

Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms

P Weir, A Kumaria, A Mohmed, S Javed, S Paine… - Acta …, 2022 - Springer
Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth syndrome
associated with certain childhood tumours. We present the case of a 36-year-old lady with …

Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

LG Best, KA Duffy, AM George… - American Journal of …, 2023 - Wiley Online Library
Abstract Beckwith‐Wiedemann Spectrum (BWSp) is an overgrowth and cancer
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …

Preclinical and clinical epigenetic-based reconsideration of beckwith-wiedemann syndrome

C Papulino, U Chianese, MM Nicoletti… - Frontiers in …, 2020 - frontiersin.org
Epigenetics has achieved a profound impact in the biomedical field, providing new
experimental opportunities and innovative therapeutic strategies to face a plethora of …

Wiedman-Beckwith syndrome, tumorigenesis and imprinting

C Junien - Acta geneticae medicae et gemellologiae: twin …, 1996 - cambridge.org
WBS is an overgrowth malformation syndrome characterized by highly variable expressivity,
associated with predisposition to different types of pediatric tumors including Wilms' tumor …

[HTML][HTML] Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link?

T Caza, J Manwaring, J Riddell - Canadian Urological Association …, 2017 - ncbi.nlm.nih.gov
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder at chromosome 11p15 that
leads to increased activity of insulin-like growth factor-2 (IGF2) and reduced activity, with no …

Constitutional H19 hypermethylation in a patient with isolated cardiac tumor

M Descartes, R Romp, J Franklin… - American Journal of …, 2008 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous.
Molecular findings characteristic of BWS have been reported in individuals with no or few …

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 …

Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation

C Abadie, F Bernard, I Netchine, D Sanlaville… - European Journal of …, 2010 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome associated with an
increased risk in childhood tumours. The phenotypic variability in BWS reflects its molecular …

[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 …