Imprinting status of 11p15 genes in Beckwith–Wiedemann syndrome patients with CDKN1C mutations

M Li, J Squire, C Shuman, J Atkin, R Pauli, A Smith… - Genomics, 2001 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by somatic
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 …

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 …

[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 …

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 …

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

F Brioude, I Netchine, F Praz, M Le Jule… - Human …, 2015 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
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 …

[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 …

Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development

R Weksberg, AC Smith, J Squire… - Human molecular …, 2003 - academic.oup.com
Abstract The Beckwith–Wiedemann syndrome (BWS) is characterized by somatic
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 …