(Epi) genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome
L Fontana, MF Bedeschi, GA Cagnoli… - … Genetics & Genomic …, 2020 - Wiley Online Library
Abstract Background Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder
caused by defects at the 11p15. 5 imprinted region. Many cases of female monozygotic (MZ) …
caused by defects at the 11p15. 5 imprinted region. Many cases of female monozygotic (MZ) …
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 …
[引用][C] Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome
T Inoue, A Nakamura, K Matsubara… - American Journal of …, 2017 - Wiley Online Library
To the editor Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth
syndrome with various clinical features such as macroglossia, omphalocele, organomegaly …
syndrome with various clinical features such as macroglossia, omphalocele, organomegaly …
Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome
F Sun, S Hara, C Tomita, Y Tanoue… - American Journal of …, 2021 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi) genetic
alterations. The incidence of monozygotic (MZ) twins in BWS is higher than in the general …
alterations. The incidence of monozygotic (MZ) twins in BWS is higher than in the general …
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
R Weksberg, C Shuman, O Caluseriu… - Human Molecular …, 2002 - academic.oup.com
Beckwith–Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor
predisposition and other congenital abnormalities, and is usually associated with …
predisposition and other congenital abnormalities, and is usually associated with …
[HTML][HTML] Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
J Bliek, M Alders, SM Maas, RJ Oostra… - European Journal of …, 2009 - nature.com
Abstract The Beckwith–Wiedemann syndrome (BWS) is a growth disorder for which an
increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions …
increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions …
[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 …
Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome
Objective The objective of this study was to describe molecular findings and phenotypic
features among individuals referred for prenatal Beckwith‐Wiedemann syndrome (BWS) …
features among individuals referred for prenatal Beckwith‐Wiedemann syndrome (BWS) …
[HTML][HTML] A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15. 5p14. 3
H Jiang, Z Ping, J Wang, X Liu, Y Jin, S Li, C Zhou… - Molecular …, 2021 - Springer
Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-
Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and …
Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and …
[HTML][HTML] De novo paternal origin duplication of chromosome 11p15. 5: report of two Chinese cases with Beckwith-Wiedemann syndrome
Q Wang, Q Geng, Q Zhou, F Luo, P Li, J Xie - Molecular cytogenetics, 2017 - Springer
Background The molecular etiology of Beckwith-Wiedemann syndrome (BWS) is complex
and heterogeneous. Several subtypes of epigenetic-genetic alterations including aberrant …
and heterogeneous. Several subtypes of epigenetic-genetic alterations including aberrant …