Trends in Genetics
ReviewImprinting in clusters: lessons from Beckwith-Wiedemann syndrome
References (51)
- et al.
Curr. Opin. Cell Biol.
(1996) - et al.
Curr. Opin. Genet. Dev.
(1996) - et al.
Curr. Biol.
(1995) Nature
(1997)- et al.
Trends Genet.
(1991) Exp. Physiol.
(1996)Trends Genet.
(1989)Am. J. Hum. Genet.
(1990)Annu. Rev. Genet.
(1996)Am. J. Hum. Genet.
(1994)
Nat. Genet.
Nature
Nat. Genet.
Hum. Mol. Genet.
Nat. Genet.
Nat. Genet.
Nat. Genet.
Nat. Genet.
Nature
Genes Dev.
Hum. Mol. Genet.
Nat. Genet.
Hum. Mol. Genet.
Nat. Genet.
Am. J. Pathol.
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Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor
2015, Applied and Translational GenomicsComprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations
2014, Genetics in MedicineCitation Excerpt :The other 13 DMRs were not aberrantly methylated in any KvDMR1-LOM patient. Among the 10 H19DMR-GOM patients, all patients showed GOM at the H19 promoter DMR, which was usually observed with loss of imprinting of IGF2 (Figure 1b).24 Four patients showed GOM at either IGF2-DMR0 or IGF2-DMR2; two patients showed GOM at both.
Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield
2010, Journal of Molecular DiagnosticsGenomic imprinting syndromes and cancer
2010, Advances in GeneticsCitation Excerpt :The abdominal wall defects range from mild weakening of the rectus muscles (divarification rectii) to more severe exomphalos requiring corrective surgery. In addition, other clinical features which are often variable include neonatal hypoglycemia, hemihypertrophy, organomegally, ear lobe creases , genitourinaray anomalies, and most significantly embryonal tumors (Cooper et al., 2005; Elliott et al., 1994; Reik and Maher, 1997). The incidence of BWS is estimated to be 1/13,700 (Weksberg et al., 2010).
Cancer epigenetics
2010, Progress in Molecular Biology and Translational SciencePhenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions
2009, European Journal of Medical Genetics