Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann …
M Bergallo, I Galliano, P Montanari, C Calvi, V Daprà… - Pathobiology, 2019 - karger.com
Abstract Background/Aims: Beckwith-Wiedemann syndrome (BWS) is a congenital
overgrowth disorder predisposing to tumorigenesis caused by abnormal expression or …
overgrowth disorder predisposing to tumorigenesis caused by abnormal expression or …
[HTML][HTML] Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction
B Coffee, K Muralidharan, WE Highsmith Jr… - Genetics in …, 2006 - Elsevier
Abstract Purpose: Beckwith-Wiedemann Syndrome is caused by defects in imprinted gene
expression at 11p15. Currently, quantitative Southern analysis using DNA methylation …
expression at 11p15. Currently, quantitative Southern analysis using DNA methylation …
[HTML][HTML] Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
HY Lin, CL Lee, S Fran, RY Tu, YH Chang… - Journal of Personalized …, 2021 - mdpi.com
Background: Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a rare overgrowth
syndrome with tumor predisposition resulting from the abnormal expression or function of …
syndrome with tumor predisposition resulting from the abnormal expression or function of …
[HTML][HTML] Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
IM Krzyzewska, M Alders, SM Maas, J Bliek… - Clinical …, 2019 - Springer
Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes
at chromosome 11p15. The molecular confirmation of this syndrome is possible in …
at chromosome 11p15. The molecular confirmation of this syndrome is possible in …
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 …
[HTML][HTML] 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 …
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 …
[HTML][HTML] Clinical utility gene card for: Beckwith–Wiedemann syndrome
T Eggermann, E Algar, P Lapunzina… - European Journal of …, 2014 - nature.com
1.6 Analytical methods (MS: methylation-specific) MS-MLPA; MS-Southern-blot; MS-PCR;
MS-single nucleotide primer extension (SNuPE); allele-specific methylation multiplex …
MS-single nucleotide primer extension (SNuPE); allele-specific methylation multiplex …
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 …
Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2
KA Duffy, ER Hathaway, SD Klein… - Molecular …, 2021 - molecularcasestudies.cshlp.org
Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth disorder caused by epigenetic
alterations on Chromosome 11p15. 5. Most molecular changes are sporadic and are …
alterations on Chromosome 11p15. 5. Most molecular changes are sporadic and are …