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 …
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 …
An association between variants in the IGF2 gene and Beckwith–Wiedemann syndrome: interaction between genotype and epigenotype
Beckwith–Wiedemann syndrome (BWS) is a fetal overgrowth disorder involving the
deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene …
deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene …
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 …
Beckwith–Wiedemann syndrome
S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …
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 …
Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders
H Soejima, K Higashimoto - Journal of human genetics, 2013 - nature.com
Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential
expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains …
expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains …
Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development
Abstract The Beckwith–Wiedemann syndrome (BWS) is characterized by somatic
overgrowth and a predisposition to pediatric embryonal tumors. It is associated with genetic …
overgrowth and a predisposition to pediatric embryonal tumors. It is associated with genetic …
Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain
Regional regulation of parental imprinting in the IGF2–H19 domain of imprinted genes was
studied in the Beckwith—Wiedemann syndrome (BWS). We identified BWS patients who …
studied in the Beckwith—Wiedemann syndrome (BWS). We identified BWS patients who …
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition,
overgrowth and highly variable association of macroglossia, abdominal wall defects …
overgrowth and highly variable association of macroglossia, abdominal wall defects …