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 …

Silver-Russell syndrome and Beckwith-Wiedemann syndrome: opposite phenotypes with heterogeneous molecular etiology

K Ounap - Molecular Syndromology, 2016 - karger.com
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically
opposite growth-affecting disorders belonging to the group of congenital imprinting …

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

T Eggermann, K Eggermann, N Schönherr - Trends in genetics, 2008 - cell.com
Human growth is a complex process that requires the appropriate interaction of many
players. Central members in the growth pathways are regulated epigenetically and thereby …

Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family

L Cardarelli, A Sparago… - Pediatric and …, 2010 - journals.sagepub.com
Genomic imprinting is an epigenetic phenomenon resulting in differential expression of
maternal and paternal alleles of a subset of genes. In the mouse, mutation of imprinted …

Epigenetic regulation of growth: lessons from Silver-Russell syndrome

T Eggermann - Endocrine Involvement in Developmental Syndromes, 2009 - karger.com
Human growth is a complex process and requires the appropriate interaction of many
members. Central members in the growth axes are regulated epigenetically and thereby …

[HTML][HTML] The role of imprinted genes in humans

M Ishida, GE Moore - Molecular aspects of medicine, 2013 - Elsevier
Genomic imprinting, a process of epigenetic modification which allows the gene to be
expressed in a parent-of-origin specific manner, has an essential role in normal growth and …

Human fetal growth disorders and imprinting anomalies

C Gicquel, S Azzi, S Rossignol, J Demars… - … , Intrauterine Health and …, 2014 - Springer
Epigenetic mechanisms play a key role in regulating gene expression. One of the best-
studied epigenetic modifications is DNA methylation at cytosine residues of CpG …

Beckwith–Wiedemann and Russell–Silver Syndromes: From new molecular insights to the comprehension of imprinting regulation

S Azzi, W Abi Habib, I Netchine - Current Opinion in …, 2014 - journals.lww.com
Beckwith–Wiedemann and Russell–Silver Syndromes: from new mo... : Current Opinion in
Endocrinology, Diabetes and Obesity Beckwith–Wiedemann and Russell–Silver Syndromes: from …

[HTML][HTML] Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes

J Liao, TB Zeng, N Pierce, DA Tran, P Singh, JR Mann… - Cell reports, 2021 - cell.com
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are imprinting
disorders manifesting as aberrant fetal growth and severe postnatal-growth-related …

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

SE Boonen, A Freschi, R Christensen, FM Valente… - Clinical …, 2016 - Springer
Abstract Background The overgrowth-associated Beckwith-Wiedemann syndrome (BWS)
and the undergrowth-associated Silver-Russell syndrome (SRS) are characterized by …