Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply
F Brioude, R Hennekam, J Bliek, C Coze… - European Journal of …, 2018 - nature.com
Recently Brzezinski et al. reported three individuals with Beckwith–Wiedemann syndrome
(BWS) due to a loss of methylation at imprinting center 2 (IC2 LOM), who had intra …
(BWS) due to a loss of methylation at imprinting center 2 (IC2 LOM), who had intra …
Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines
J Brzezinski, C Shuman, S Choufani, P Ray… - European Journal of …, 2017 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) is an overgrowth syndrome caused by a
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …
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 …
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 …
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …
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 …
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
HY Lin, CK Chuang, RY Tu, YY Fang, YN Su… - Molecular Genetics and …, 2016 - Elsevier
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth
disorder predisposing to tumorigenesis that results from abnormal expression or function of …
disorder predisposing to tumorigenesis that results from abnormal expression or function of …
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
SW Baker, KA Duffy, J Richards-Yutz… - Journal of medical …, 2021 - jmg.bmj.com
Background Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)
J Bliek, C Gicquel, S Maas, V Gaston, Y Le Bouc… - The Journal of …, 2004 - Elsevier
OBJECTIVES: Patients with Beckwith-Wiedemann syndrome (BWS) have a risk of 7.5% to
10% of developing childhood tumors, 60% of which are Wilms' tumors. Aberrant methylation …
10% of developing childhood tumors, 60% of which are Wilms' tumors. Aberrant methylation …
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 …
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases …
J Bliek, SM Maas, JM Ruijter… - Human molecular …, 2001 - academic.oup.com
Beckwith–Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that maps
to human chromosome 11p15. 5, a region that harbours a number of imprinted genes. We …
to human chromosome 11p15. 5, a region that harbours a number of imprinted genes. We …