Clinical utility gene card for: Beckwith–Wiedemann syndrome
T Eggermann, E Algar, P Lapunzina… - European Journal of …, 2014 - nature.com
1.6 Analytical methods (MS: methylation-specific) MS-MLPA; MS-Southern-blot; MS-PCR;
MS-single nucleotide primer extension (SNuPE); allele-specific methylation multiplex …
MS-single nucleotide primer extension (SNuPE); allele-specific methylation multiplex …
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
S Cöktü, C Spix, M Kaiser, J Beygo, S Kleinle… - British Journal of …, 2020 - nature.com
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition
syndrome caused by defects on chromosome 11p15. 5. The quantitative cancer risks in …
syndrome caused by defects on chromosome 11p15. 5. The quantitative cancer risks in …
Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome
A Gazzin, D Carli, F Sirchia, C Molinatto… - American Journal of …, 2019 - Wiley Online Library
Abstract Background Beckwith‐Wiedemann syndrome (BWS) phenotype usually mitigates
with age and data on adulthood are limited. Our study aims at reporting phenotype evolution …
with age and data on adulthood are limited. Our study aims at reporting phenotype evolution …
Prevalence of Beckwith–Wiedemann syndrome in north west of Italy
A Mussa, S Russo, A De Crescenzo… - American journal of …, 2013 - Wiley Online Library
ABSTRACT Although Beckwith–Wiedemann syndrome (BWS, OMIM# 130650) is the most
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …
Beckwith–Wiedemann syndrome in diverse populations
KA Duffy, BJ Sajorda, AC Yu… - American journal of …, 2019 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder
and presents with patients affected by a variety of clinical features. Although genotype …
and presents with patients affected by a variety of clinical features. Although genotype …
Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis
P Rump, MPA Zeegers… - American journal of …, 2005 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with
macroglossia, abdominal wall defects, ear anomalies, and an increased risk for embryonic …
macroglossia, abdominal wall defects, ear anomalies, and an increased risk for embryonic …
Characteristics associated with tumor development in individuals diagnosed with Beckwith–Wiedemann spectrum: Novel tumor-(epi) genotype-phenotype …
KA Duffy, KD Getz, ER Hathaway, ME Byrne… - Genes, 2021 - mdpi.com
Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …
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 …
Diagnosis of Beckwith–Wiedemann syndrome in children presenting with Wilms tumor
SP MacFarland, KA Duffy, TR Bhatti… - Pediatric blood & …, 2018 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is a genetic syndrome associated with overgrowth
and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS …
and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS …
Tumor screening in Beckwith-Wiedemann syndrome: parental perspectives
KA Duffy, KL Grand, K Zelley, JM Kalish - Journal of genetic counseling, 2018 - Springer
Abstract Children with Beckwith-Wiedemann Syndrome (BWS) and Isolated
Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in …
Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in …