Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
D Jurkiewicz, A Skórka, E Ciara, M Kugaudo… - Clinical …, 2020 - journals.lww.com
… Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder
characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised …
characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised …
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum
A Mussa, KA Duffy, D Carli, JR Griff, R Fagiano… - Journal of cancer …, 2019 - Springer
Purpose It is well documented that patients with Beckwith–Wiedemann spectrum (BWS)
have a significantly higher risk of developing Wilms tumor (WT) than the general population. …
have a significantly higher risk of developing Wilms tumor (WT) than the general population. …
Implications of an underlying Beckwith–Wiedemann Syndrome for Wilms Tumor treatment strategies
P Quarello, D Carli, D Biasoni, S Gerocarni Nappo… - Cancers, 2023 - mdpi.com
… phenotypes. … syndrome was renamed Beckwith–Wiedemann Spectrum [9,10].
Furthermore, BWS demonstrates etiologic molecular heterogeneity with specific phenotype–epi/genotype …
Furthermore, BWS demonstrates etiologic molecular heterogeneity with specific phenotype–epi/genotype …
… of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome
M Bergallo, I Galliano, P Montanari, C Calvi, V Daprà… - Pathobiology, 2019 - karger.com
… Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74
… (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for …
… (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for …
[PDF][PDF] Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. Genes 2021, 12, 172
S Choufani, JM Ko, Y Lou, C Shuman, L Fishman… - 2021 - pdfs.semanticscholar.org
… However, epigenotype-phenotype correlation in patients with MLID revealed a significant
sex bias, with a male-to-female ratio of 1:4 [18]. Some patients have been reported to manifest …
sex bias, with a male-to-female ratio of 1:4 [18]. Some patients have been reported to manifest …
Profound alterations of the chromatin architecture at chromosome 11p15. 5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are imprinting-related
disorders associated with genetic/epigenetic alterations of the 11p15.5 region, which …
disorders associated with genetic/epigenetic alterations of the 11p15.5 region, which …
Does Beckwith-Wiedemann syndrome require intensive Wilms tumour surveillance?
CP McGrath, MA Boyle - Archives of Disease in Childhood, 2021 - adc.bmj.com
… Macroglossia is noted on outpatient review and Beckwith-Wiedemann syndrome (BWS) is
… , tumour occurrence has long been observed to have a genotype–phenotype correlation. …
… , tumour occurrence has long been observed to have a genotype–phenotype correlation. …
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2022 - jmg.bmj.com
… overgrowth, that is, Beckwith-Wiedemann syndrome (BWS), … reported IMAGe and
Beckwith-Wiedemann syndrome (BWS) … Genotype–phenotype correlations are reported as …
Beckwith-Wiedemann syndrome (BWS) … Genotype–phenotype correlations are reported as …
Case Studies of Two Classical Imprinting Growth Disorders: Silver–Russell and Beckwith–Wiedemann Syndromes
P Kaur, C Chaudhry, A Kaur, I Panigrahi… - Journal of Pediatric …, 2021 - thieme-connect.com
The genetic influences on human growth are being increasingly deciphered. Silver–Russell
and Beckwith–Wiedemann syndromes (SRS; BWS) are two relatively common genetic …
and Beckwith–Wiedemann syndromes (SRS; BWS) are two relatively common genetic …
A Novel Macroglossia Severity Index for Beckwith-Wiedemann Syndrome
… patients with BeckwithWiedemann Syndrome (BWS), the BWS Index of macroGlossia (BIG). …
Speech and oral motor skills in children with Beckwith Wiedemann Syndrome: Pre- and post-…
Speech and oral motor skills in children with Beckwith Wiedemann Syndrome: Pre- and post-…