[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 …
[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 …
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
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 …
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects
A Ibrahim, G Kirby, C Hardy, RP Dias, L Tee, D Lim… - Clinical …, 2014 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth
disorder with variable expressivity and a predisposition to tumorigenesis, results from …
disorder with variable expressivity and a predisposition to tumorigenesis, results from …
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine
Beckwith–Wiedemann syndrome (BWS) is the commonest overgrowth cancer predisposition
disorder and represents a model for human imprinting dysregulation and tumorigenesis …
disorder and represents a model for human imprinting dysregulation and tumorigenesis …
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol
A Mussa, C Molinatto, G Baldassarre, E Riberi… - The Journal of …, 2016 - Elsevier
Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition,
overgrowth and highly variable association of macroglossia, abdominal wall defects …
overgrowth and highly variable association of macroglossia, abdominal wall defects …
Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development
Abstract The Beckwith–Wiedemann syndrome (BWS) is characterized by somatic
overgrowth and a predisposition to pediatric embryonal tumors. It is associated with genetic …
overgrowth and a predisposition to pediatric embryonal tumors. It is associated with genetic …
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance
F Brioude, A Lacoste, I Netchine, MP Vazquez… - Hormone research in …, 2014 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …