SNP arrays in Beckwith–Wiedemann syndrome: an improved diagnostic strategy
B Keren, S Chantot-Bastaraud, F Brioude… - European Journal of …, 2013 - Elsevier
Beckwith–Wiedemann syndrome is an overgrowth disorder with an increased risk of
childhood tumors that results from a dysregulation of imprinted gene expression in the …
childhood tumors that results from a dysregulation of imprinted gene expression in the …
[HTML][HTML] Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature
GC Ma, TH Chen, WJ Wu, DJ Lee, WH Lin, M Chen - Diagnostics, 2022 - mdpi.com
Background: Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genetically
heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome …
heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome …
[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 …
Beckwith–wiedemann syndrome
R Weksberg, C Shuman… - American Journal of …, 2005 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome
associated with an increased risk for embryonal tumor development. BWS provides an ideal …
associated with an increased risk for embryonal tumor development. BWS provides an ideal …
[HTML][HTML] Preclinical and clinical epigenetic-based reconsideration of Beckwith-Wiedemann Syndrome
C Papulino, U Chianese, MM Nicoletti… - Frontiers in …, 2020 - frontiersin.org
Epigenetics has achieved a profound impact in the biomedical field, providing new
experimental opportunities and innovative therapeutic strategies to face a plethora of …
experimental opportunities and innovative therapeutic strategies to face a plethora of …
[HTML][HTML] Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
Abstract Purpose Beckwith–Wiedemann syndrome (BWS) is a developmental disorder
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …
Beckwith–Wiedemann syndrome in diverse populations
KA Duffy, BJ Sajorda, AC Yu… - American journal of …, 2019 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder
and presents with patients affected by a variety of clinical features. Although genotype …
and presents with patients affected by a variety of clinical features. Although genotype …
[PDF][PDF] In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene
C Gicquel, V Gaston, J Mandelbaum, JP Siffroi… - The American Journal of …, 2003 - cell.com
“Parental imprinting” refers to an epigenetic marking of genes that results in monoallelic
expression. This phenomenon plays a critical role in embryogenesis and development. The …
expression. This phenomenon plays a critical role in embryogenesis and development. The …
[HTML][HTML] Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology
L Tee, DHK Lim, RP Dias, MO Baudement, AA Slater… - Clinical …, 2013 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth
disorder associated with abnormalities in 11p15. 5 imprinted genes. The most common …
disorder associated with abnormalities in 11p15. 5 imprinted genes. The most common …
[PDF][PDF] Beckwith-Wiedemann syndrome
C Gicquel, S Rossignol, Y Le Bouc - Orphanet encyclopedia, 2005 - forgottendiseases.org
Abstract Beckwith-Wiedemann Syndrome (BWS; OMIM 130650) is an overgrowth disorder
characterized by macrosomia, macroglossia, organomegaly and developmental …
characterized by macrosomia, macroglossia, organomegaly and developmental …