(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 …
Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the …
A Mussa, S Di Candia, S Russo, S Catania… - European journal of …, 2016 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is the most common (epi) genetic overgrowth-
cancer predisposition disorder. Given the absence of consensual recommendations or …
cancer predisposition disorder. Given the absence of consensual recommendations or …
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 …
Clinical and molecular diagnosis of Beckwith-Wiedemann syndrome with single-or multi-locus imprinting disturbance
L Fontana, S Tabano, S Maitz, P Colapietro… - International journal of …, 2021 - mdpi.com
Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous
overgrowth disease. BWS is caused by (epi) genetic defects at the 11p15 chromosomal …
overgrowth disease. BWS is caused by (epi) genetic defects at the 11p15 chromosomal …
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 …
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine
Beckwith–Wiedemann syndrome (BWS) is the commonest overgrowth cancer predisposition
disorder and represents a model for human imprinting dysregulation and tumorigenesis …
disorder and represents a model for human imprinting dysregulation and tumorigenesis …
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 …
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 …
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 …
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 …
相关搜索
- phenotype correlations wiedemann syndrome
- beckwith wiedemann epigenotype phenotype
- patients with beckwith wiedemann syndrome
- cancer risk wiedemann syndrome
- beckwith wiedemann imprinting disturbance
- beckwith wiedemann screening protocol
- molecular subtypes wiedemann syndrome
- high frequency wiedemann syndrome
- beckwith wiedemann methylation analysis
- genomic medicine wiedemann syndrome
- phenotype correlations genomic medicine
- copy number variations wiedemann syndrome
- phenotypic expression wiedemann syndrome
- beckwith wiedemann cancer risk
- beckwith wiedemann meta analysis