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 …
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome
V Gaston, Y Le Bouc, V Soupre, L Burglen… - European journal of …, 2001 - nature.com
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental
abnormalities, tissue and organ hyperplasia and an increased risk of embryonal tumours …
abnormalities, tissue and organ hyperplasia and an increased risk of embryonal tumours …
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 …
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
NJ Smilinich, CD Day, GV Fitzpatrick… - Proceedings of the …, 1999 - National Acad Sciences
Loss of imprinting at IGF2, generally through an H19-independent mechanism, is associated
with a large percentage of patients with the overgrowth and cancer predisposition condition …
with a large percentage of patients with the overgrowth and cancer predisposition condition …
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 …
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 …
Imprinting status of 11p15 genes in Beckwith–Wiedemann syndrome patients with CDKN1C mutations
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by somatic
overgrowth, congenital malformations, and predisposition to childhood tumors. Aberrant …
overgrowth, congenital malformations, and predisposition to childhood tumors. Aberrant …
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome
N Diaz-Meyer, CD Day, K Khatod, ER Maher… - Journal of medical …, 2003 - jmg.bmj.com
Context: Beckwith–Wiedemann syndrome (BWS) arises by several genetic and epigenetic
mechanisms affecting the balance of imprinted gene expression in chromosome 11p15. 5 …
mechanisms affecting the balance of imprinted gene expression in chromosome 11p15. 5 …
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
JR Engel, A Smallwood, A Harper… - Journal of medical …, 2000 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from
mutations or epigenetic events involving imprinted genes at chromosome 11p15. 5. Thus …
mutations or epigenetic events involving imprinted genes at chromosome 11p15. 5. Thus …
Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome
WN Cooper, A Luharia, GA Evans, H Raza… - European journal of …, 2005 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) results from mutations or epigenetic
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …