High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome
B Baskin, S Choufani, Y Chen, C Shuman, N Parkinson… - Human Genetics, 2014 - Springer
Abstract Beckwith–Wiedemann syndrome (BWS), an overgrowth and tumor predisposition
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …
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 …
(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 …
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
M Calvello, S Tabano, P Colapietro, S Maitz, A Pansa… - Epigenetics, 2013 - Taylor & Francis
Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and
predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic …
predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic …
Molecular basis of Beckwith–Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice
Simple Summary Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is an inborn
overgrowth disorder caused by molecular alterations in chromosome 11p15. 5. These …
overgrowth disorder caused by molecular alterations in chromosome 11p15. 5. These …
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
SW Baker, KA Duffy, J Richards-Yutz… - Journal of medical …, 2021 - jmg.bmj.com
Background Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
Molecular genetics of Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder characterized by
developmental anomalies, tissue and organ hyperplasia, and an increased risk of …
developmental anomalies, tissue and organ hyperplasia, and an increased risk of …
Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
AC Smith, C Shuman, D Chitayat… - American Journal of …, 2007 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by
macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS …
macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS …
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 …
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 …
相关搜索
- patients with beckwith wiedemann syndrome
- chromosome 11p15 wiedemann syndrome
- patients with beckwith copy number variations
- copy number variations wiedemann syndrome
- patients with beckwith high frequency
- high frequency wiedemann syndrome
- chromosome 11p15 high levels
- methylation analysis beckwith wiedemann
- high frequency copy number variations
- molecular genetics beckwith wiedemann
- chromosome 11p15 severe presentation
- severe presentation wiedemann syndrome
- phenotype analysis wiedemann syndrome
- tumor development wiedemann syndrome
- epigenotype phenotype beckwith wiedemann
- patients in taiwan wiedemann syndrome