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 …
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 …
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 …
[HTML][HTML] 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 …
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
WWK Lam, I Hatada, S Ohishi, T Mukai… - Journal of medical …, 1999 - jmg.bmj.com
Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable
phenotype. The major features are anterior abdominal wall defects including exomphalos …
phenotype. The major features are anterior abdominal wall defects including exomphalos …
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
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] 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 …
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 …